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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hereditary Central Nervous System Demyelinating Diseases
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Accession:DOID:9008095 term browser browse the term
Definition:Inherited conditions characterized by a loss of MYELIN in the central nervous system.
Synonyms:exact_synonym: leucodystrophy
 primary_id: MESH:D020279
 alt_id: OMIA:001130
For additional species annotation, visit the Alliance of Genome Resources.


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adult-onset autosomal dominant demyelinating leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNB1 lamin B1 IAGP DNA:duplication:cds (human)
ClinVar Annotator: match by term: Leukodystrophy, adult-onset, autosomal dominant
ClinVar Annotator: match by term: Leukodystrophy, Adult-Onset
ClinVar
OMIM
PMID:16951681, PMID:19151023, PMID:21225301, PMID:21909802, PMID:23649844, PMID:25741868, PMID:28492532, PMID:16951681 RGD:10044243 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
combined saposin deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Combined saposin deficiency
ClinVar Annotator: match by term: Sphingolipid activator protein 1 deficiency
ClinVar
OMIM
PMID:1371116, PMID:1689485, PMID:2019586, PMID:2066109, PMID:2302219, PMID:2320574, PMID:2514102, PMID:8370580, PMID:8554069, PMID:10196694, PMID:10682309, PMID:11309366, PMID:15773042, PMID:17561962, PMID:17616409, PMID:17919309, PMID:18429043, PMID:18693274, PMID:19267410, PMID:19955343, PMID:20484222, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:26462614, PMID:26831127, PMID:28492532, PMID:30632081 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,325
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:25741868, PMID:28459997, PMID:30847471, PMID:31637490 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,969,251...78,029,515
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr12:106,357,712...106,510,198
Ensembl chr12:106,357,748...106,510,198
JBrowse link
early infantile epileptic encephalopathy 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC25A12 solute carrier family 25 member 12 IAGP ClinVar Annotator: match by term: Hypomyelination, global cerebral ClinVar
OMIM
PMID:19641205, PMID:24515575, PMID:24973975, PMID:25741868, PMID:28492532 NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859
JBrowse link
hypomyelinating leukodystrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PYCR2 pyrroline-5-carboxylate reductase 2 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 10 ClinVar
OMIM
PMID:25741868, PMID:25865492, PMID:27130255, PMID:27860360 NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340
JBrowse link
hypomyelinating leukodystrophy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR1C RNA polymerase I and III subunit C IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 11 ClinVar
OMIM
PMID:610060, PMID:11013442, PMID:21131976, PMID:25741868, PMID:26151409, PMID:28327206, PMID:29567474 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
hypomyelinating leukodystrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G VPS11 VPS11 core subunit of CORVET and HOPS complexes IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 12 ClinVar
OMIM
PMID:25741868, PMID:26307567, PMID:27120463 NCBI chr11:119,067,792...119,081,972
Ensembl chr11:119,067,818...119,081,972
Ensembl chr11:119,067,818...119,081,972
JBrowse link
hypomyelinating leukodystrophy 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIKESHI heat shock protein nuclear import factor hikeshi IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 13 ClinVar
OMIM
PMID:26545878 NCBI chr11:86,302,229...86,345,943
Ensembl chr11:86,302,211...86,345,943
JBrowse link
hypomyelinating leukodystrophy 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G UFM1 ubiquitin fold modifier 1 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 14 ClinVar
OMIM
PMID:25741868, PMID:28931644, PMID:29868776, PMID:30311386 NCBI chr13:38,349,851...38,363,619
Ensembl chr13:38,349,849...38,363,619
JBrowse link
Hypomyelinating Leukodystrophy 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 15 ClinVar
OMIM
PMID:25741868, PMID:29576217 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530
JBrowse link
Hypomyelinating Leukodystrophy 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM106B transmembrane protein 106B IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 16 ClinVar
OMIM
PMID:25741868, PMID:29186371, PMID:29444210 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
JBrowse link
Hypomyelinating Leukodystrophy 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 17 ClinVar
OMIM
PMID:29215095 NCBI chr 7:6,009,272...6,023,834
Ensembl chr 7:6,009,255...6,023,834
JBrowse link
Hypomyelinating Leukodystrophy 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DEGS1 delta 4-desaturase, sphingolipid 1 IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 18 OMIM
ClinVar
PMID:25741868, PMID:30620337, PMID:30620338, PMID:31186544 NCBI chr 1:224,183,240...224,193,441
Ensembl chr 1:224,175,756...224,193,441
JBrowse link
Hypomyelinating Leukodystrophy 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM63A transmembrane protein 63A IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE OMIM
ClinVar
PMID:25741868, PMID:31587869 NCBI chr 1:225,840,556...225,882,720
Ensembl chr 1:225,845,536...225,882,380
JBrowse link
hypomyelinating leukodystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 IAGP
EXP
ISO
DNA:missense mutations, nonsense mutation, frameshift mutation:cds:multiple (human)
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:missense mutation, frameshift mutations:cds:p.G236S, p.P131fs144X, p.L281fs285X (human)
DNA:missense mutation:cds:p.M282T (mouse)
DNA:snp:5' utr:c.-167A>G (human)
ClinVar
CTD
OMIM
PMID:8733901, PMID:15192806, PMID:16969684, PMID:17031678, PMID:17344063, PMID:18094336, PMID:18571143, PMID:20695017, PMID:21246605, PMID:21959080, PMID:22351697, PMID:22669416, PMID:22833003, PMID:23142375, PMID:24374284, PMID:25326635, PMID:25741868, PMID:26354221, PMID:27057822, PMID:27780564, PMID:28492532, PMID:29276893, PMID:15192806, PMID:18094336, PMID:16707726, PMID:21750683, PMID:21959080 RGD:13208525, RGD:13208581, RGD:13208580, RGD:13208533, RGD:13208526 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G SNAP29 synaptosome associated protein 29 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 2 ClinVar PMID:25356970 NCBI chr22:20,859,007...20,891,214
Ensembl chr22:20,859,007...20,891,214
JBrowse link
hypomyelinating leukodystrophy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIMP1 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating 3
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 3
ClinVar
OMIM
PMID:21092922, PMID:23806086, PMID:24088041, PMID:24958424, PMID:25741868, PMID:26257172 NCBI chr 4:106,315,544...106,349,456
Ensembl chr 4:106,315,544...106,349,456
JBrowse link
hypomyelinating leukodystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPD1 heat shock protein family D (Hsp60) member 1 IAGP
EXP
DNA:mutation:exon: g.1512A>G(p.D29G)(human)
ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:18571143, PMID:25741868, PMID:27405012, PMID:18571143 RGD:12910473 NCBI chr 2:197,486,584...197,500,274
Ensembl chr 2:197,486,584...197,516,737
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 4 ClinVar PMID:29389947 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,969,251...78,029,515
JBrowse link
hypomyelinating leukodystrophy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM126A family with sequence similarity 126 member A IAGP ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract ClinVar
OMIM
PMID:16951682, PMID:17928815, PMID:21911699, PMID:25741868, PMID:28492532 NCBI chr 7:22,895,848...23,014,133
Ensembl chr 7:22,889,371...23,014,130
JBrowse link
hypomyelinating leukodystrophy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 6 ClinVar
OMIM
PMID:3156966, PMID:3405308, PMID:7983175, PMID:12372733, PMID:16707859, PMID:18466252, PMID:18851904, PMID:20191564, PMID:21956287, PMID:23424103, PMID:23582646, PMID:23595291, PMID:24088041, PMID:24526230, PMID:24706558, PMID:24742798, PMID:24785942, PMID:24850488, PMID:24974158, PMID:25085639, PMID:25168210, PMID:25326635, PMID:25326637, PMID:25356970, PMID:25497598, PMID:25545912, PMID:25741868, PMID:25772097, PMID:26318963, PMID:26633545, PMID:26643067, PMID:27188707, PMID:28492532, PMID:28592043, PMID:28655586, PMID:28973395, PMID:29451896, PMID:30079973, PMID:32581362 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7 ClinVar PMID:25741868 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar Annotator: match by term: Dentoleukoencephalopathy
ClinVar Annotator: match by term: Leukodystrophy with oligodontia
ClinVar
OMIM
PMID:614258, PMID:12605447, PMID:17159124, PMID:20640464, PMID:21855841, PMID:22036171, PMID:25339210, PMID:25741868, PMID:26096995, PMID:26752647, PMID:27029625, PMID:27521716, PMID:27535217, PMID:28459997, PMID:28492532, PMID:30414627, PMID:30847471, PMID:31637490, PMID:32214227 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,969,251...78,029,515
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP
EXP
ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956 NCBI chr12:106,357,712...106,510,198
Ensembl chr12:106,357,748...106,510,198
JBrowse link
G RPS24 ribosomal protein S24 IAGP ClinVar Annotator: match by term: Pol III-related leukodystrophy
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 7
ClinVar PMID:25741868, PMID:27029625 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
JBrowse link
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AC079385.1 novel transcript, antisense to POLR3B, RFX4 and RIC8B. IAGP ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism ClinVar PMID:25741868, PMID:28492532 NCBI chr12:106,496,410...106,774,831
Ensembl chr12:106,495,958...106,774,926
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC HYPOGONADISM
ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism
ClinVar
OMIM
PMID:18851904, PMID:22036171, PMID:22036172, PMID:23355746, PMID:25339210, PMID:25741868, PMID:26204956, PMID:28492532 NCBI chr12:106,357,712...106,510,198
Ensembl chr12:106,357,748...106,510,198
JBrowse link
hypomyelinating leukodystrophy 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RARS1 arginyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 9 ClinVar
OMIM
PMID:24777941, PMID:25741868, PMID:27848944, PMID:28492532, PMID:28905880, PMID:30311386, PMID:30791064 NCBI chr 5:168,486,471...168,519,301
Ensembl chr 5:168,486,451...168,519,301
JBrowse link
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DARS1 aspartyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Hypomyelination with brainstem and spinal cord involvement and leg spasticity ClinVar
OMIM
PMID:23643384, PMID:25741868 NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100
JBrowse link
Krabbe disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G GALC galactosylceramidase IAGP
ISO
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency ClinVar
OMIM
PMID:3362311, PMID:7437911, PMID:7581365, PMID:8281145, PMID:8297359, PMID:8595408, PMID:8634707, PMID:8687180, PMID:8786069, PMID:8940268, PMID:9005874, PMID:9266397, PMID:9272171, PMID:9338580, PMID:9371928, PMID:10234611, PMID:10448809, PMID:10464649, PMID:10477434, PMID:10833326, PMID:11003282, PMID:11151421, PMID:12699861, PMID:16607461, PMID:16759875, PMID:17579360, PMID:17824908, PMID:19302934, PMID:20135576, PMID:20410102, PMID:20886637, PMID:21070211, PMID:21824559, PMID:21876145, PMID:22073273, PMID:22115770, PMID:22520351, PMID:22704718, PMID:23128445, PMID:23138179, PMID:23197103, PMID:23319190, PMID:23430802, PMID:23462331, PMID:23509109, PMID:23620143, PMID:24033266, PMID:24078576, PMID:24252386, PMID:24297913, PMID:24913062, PMID:25260228, PMID:25265039, PMID:25741868, PMID:25956830, PMID:26108647, PMID:26396125, PMID:26539891, PMID:26567009, PMID:26795590, PMID:26865610, PMID:26915362, PMID:27126738, PMID:27238910, PMID:27442402, PMID:27535533, PMID:27638593, PMID:27638604, PMID:27679535, PMID:27779215, PMID:27780934, PMID:27785412, PMID:28492532, PMID:28547031, PMID:28598007, PMID:28600779, PMID:28976722, PMID:29120458, PMID:29286531, PMID:29481565, PMID:29615819, PMID:29951496, PMID:29966168, PMID:30089515, PMID:30202406, PMID:30209698, PMID:30311386, PMID:30609409, PMID:30777126, PMID:31053700, PMID:31185936, PMID:31319225, PMID:32576985, PMID:2120388 RGD:38599167 NCBI chr14:87,933,014...87,993,665
Ensembl chr14:87,837,820...87,993,665
JBrowse link
G PSAP prosaposin IAGP
ISS
ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency
OMIM:245200
ClinVar
MouseDO
PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,325
JBrowse link
Krabbe Disease, Atypical, due to Saposin A Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency ClinVar PMID:25741868 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Krabbe disease atypical due to Saposin A deficiency
ClinVar Annotator: match by term: Krabbe disease, atypical, due to saposin A deficiency
ClinVar
OMIM
PMID:15773042, PMID:25741868, PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,325
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule IAGP
EXP
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21419380, PMID:25741868, PMID:28492532 NCBI chr11:124,919,205...124,936,412
Ensembl chr11:124,919,205...124,936,412
JBrowse link
G HEPN1 hepatocellular carcinoma, down-regulated 1 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts ClinVar NCBI chr11:124,919,244...124,920,677
Ensembl chr11:124,919,244...124,920,677
JBrowse link
G MLC1 modulator of VRAC current 1 IAGP
EXP
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11254442, PMID:25741868 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,902
Ensembl chr22:50,059,391...50,085,902
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule IEA
IAGP
OMIM:604004
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1
MouseDO
ClinVar
PMID:25741868, PMID:29389947 NCBI chr11:124,919,205...124,936,412
Ensembl chr11:124,919,205...124,936,412
JBrowse link
G MLC1 modulator of VRAC current 1 IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 1 ClinVar
OMIM
PMID:11254442, PMID:11935341, PMID:12189496, PMID:12497630, PMID:12939431, PMID:14572144, PMID:14615938, PMID:15037685, PMID:15367490, PMID:15992519, PMID:16470554, PMID:16652334, PMID:18757878, PMID:19168821, PMID:20301707, PMID:20560255, PMID:21145992, PMID:21160490, PMID:21555057, PMID:21624973, PMID:22006981, PMID:22328087, PMID:22405205, PMID:22416245, PMID:23793458, PMID:23851226, PMID:25497041, PMID:25741868, PMID:25767710, PMID:26349194, PMID:27081509, PMID:27322623, PMID:28492532, PMID:28588848, PMID:30311386 NCBI chr22:50,059,391...50,085,875
Ensembl chr22:50,059,391...50,085,902
Ensembl chr22:50,059,391...50,085,902
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2a ClinVar
OMIM
PMID:21419380, PMID:25741868, PMID:30311386 NCBI chr11:124,919,205...124,936,412
Ensembl chr11:124,919,205...124,936,412
JBrowse link
megalencephalic leukoencephalopathy with subcortical cysts 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEPACAM hepatic and glial cell adhesion molecule IAGP ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation
ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation
ClinVar
OMIM
PMID:20517947, PMID:21419380, PMID:25741868 NCBI chr11:124,919,205...124,936,412
Ensembl chr11:124,919,205...124,936,412
JBrowse link
metachromatic leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy
ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile
ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type
ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe
ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild
ClinVar Annotator: match by term: Arylsulfatase A Deficiency
ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency
ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe
ClinVar
OMIM
PMID:1284530, PMID:1353340, PMID:1357970, PMID:1670590, PMID:1671769, PMID:1673291, PMID:1674719, PMID:1676699, PMID:1678251, PMID:1684088, PMID:1975241, PMID:2574462, PMID:6122378, PMID:7581401, PMID:7649558, PMID:7815433, PMID:7815434, PMID:7825603, PMID:7833949, PMID:7858169, PMID:7860068, PMID:7866401, PMID:7902317, PMID:7906588, PMID:7909527, PMID:7981715, PMID:8095918, PMID:8101038, PMID:8101083, PMID:8104633, PMID:8455580, PMID:8723680, PMID:8891236, PMID:8962139, PMID:8982952, PMID:9090526, PMID:9096767, PMID:9192271, PMID:9402957, PMID:9452102, PMID:9490297, PMID:9600244, PMID:9668161, PMID:9744473, PMID:9819708, PMID:10220151, PMID:10381328, PMID:10459747, PMID:10477432, PMID:10533072, PMID:10751093, PMID:11013459, PMID:11020646, PMID:11061266, PMID:11456299, PMID:11777924, PMID:11941485, PMID:12035837, PMID:12081727, PMID:12086582, PMID:12445909, PMID:12503099, PMID:12788103, PMID:12809637, PMID:12809638, PMID:14517960, PMID:14571263, PMID:14680985, PMID:15026521, PMID:15139291, PMID:15211666, PMID:15326627, PMID:15375602, PMID:15720392, PMID:15952986, PMID:16110195, PMID:16546179, PMID:16678723, PMID:16966551, PMID:17438611, PMID:17560502, PMID:18693274, PMID:18768108, PMID:18786133, PMID:18832844, PMID:19021637, PMID:19154224, PMID:19565006, PMID:19606494, PMID:19815439, PMID:20301309, PMID:20339381, PMID:20646068, PMID:20890085, PMID:21167507, PMID:21265945, PMID:22216298, PMID:22798296, PMID:22993277, PMID:23208745, PMID:23559313, PMID:23581857, PMID:23701968, PMID:23845948, PMID:24001781, PMID:24033266, PMID:25297594, PMID:25525159, PMID:25741868, PMID:25965562, PMID:25987178, PMID:26000324, PMID:26131420, PMID:26462614, PMID:26467025, PMID:26553228, PMID:26890752, PMID:26915897, PMID:27261095, PMID:27289174, PMID:27374302, PMID:27779215, PMID:27904824, PMID:28492532, PMID:28667691, PMID:28670130, PMID:28762252, PMID:29544907, PMID:29966168, PMID:30057904, PMID:30293248, PMID:30311386, PMID:30828547, PMID:31694723, PMID:32632536, PMID:15026521, PMID:15375602 RGD:1358434, RGD:1358435 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
G ARSB arylsulfatase B IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:1550123, PMID:8116615, PMID:8651289, PMID:10923267, PMID:11939792, PMID:14974081, PMID:16435196, PMID:17458871, PMID:17643332, PMID:18406185, PMID:21514195, PMID:21791832, PMID:21917494, PMID:22133300, PMID:22441840, PMID:23557332, PMID:23657977, PMID:24221504, PMID:24373060, PMID:24767253, PMID:25741868, PMID:28492532, PMID:30118150 NCBI chr 5:78,777,209...78,986,087
Ensembl chr 5:78,777,209...78,986,087
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:11709541, PMID:20633800, PMID:24728327, PMID:25741868, PMID:27504877 NCBI chr19:45,349,837...45,370,647
Ensembl chr19:45,349,837...45,370,918
JBrowse link
G MAL mal, T cell differentiation protein IAGP RGD PMID:15193296 RGD:1358761 NCBI chr 2:95,025,708...95,053,992
Ensembl chr 2:95,025,677...95,053,992
JBrowse link
G PSAP prosaposin IAGP
ISS
IEA
ClinVar Annotator: match by term: Metachromatic leukodystrophy
OMIM:249900 | OMIM:250100
ClinVar
MouseDO
PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,325
JBrowse link
G SCP2 sterol carrier protein 2 IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy variant ClinVar PMID:25741868 NCBI chr 1:52,927,276...53,051,698
Ensembl chr 1:52,927,276...53,051,698
JBrowse link
Metachromatic Leukodystrophy due to Saposin B Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Saposin B Deficiency
ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency
ClinVar PMID:25741868 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Metachromatic leukodystrophy due to saposin B deficiency
ClinVar Annotator: match by term: Saposin B Deficiency
OMIM
ClinVar
PMID:25741868, PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,325
JBrowse link
Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NACC1 nucleus accumbens associated 1 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination OMIM
ClinVar
PMID:24896178, PMID:25363768, PMID:25741868, PMID:28132692 NCBI chr19:13,116,848...13,141,147
Ensembl chr19:13,116,862...13,141,147
JBrowse link
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTHFS methenyltetrahydrofolate synthetase IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION OMIM
ClinVar
PMID:25741868, PMID:30031689 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
JBrowse link
G ST20-MTHFS ST20-MTHFS readthrough IAGP ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION ClinVar PMID:25741868, PMID:30031689 NCBI chr15:79,843,547...79,923,092
Ensembl chr15:79,845,150...79,923,754
JBrowse link
Pelizaeus-Merzbacher disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJC2 gap junction protein gamma 2 IAGP ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease ClinVar PMID:23143715, PMID:25741868, PMID:31319225 NCBI chr 1:228,149,930...228,159,826
Ensembl chr 1:228,149,930...228,159,826
JBrowse link
G LMNB1 lamin B1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G PLP1 proteolipid protein 1 TAS
IAGP
EXP
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
DNA:missense mutation:cds:p.A246T (human)
ClinVar
CTD
OMIM
PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:1720927, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8659540, PMID:8696336, PMID:8723686, PMID:8786077, PMID:9056547, PMID:9482656, PMID:9633722, PMID:9634530, PMID:11071483, PMID:12605435, PMID:12910435, PMID:16380909, PMID:18571143, PMID:18835559, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26633545, PMID:27535533, PMID:28492532, PMID:29451896, PMID:14572140, PMID:10425042 RGD:1358783, RGD:1358559 NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619
JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, connatal
ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, atypical
ClinVar Annotator: match by term: Pelizaeus-merzbacher disease, mild
ClinVar PMID:1376966, PMID:1384324, PMID:1605230, PMID:1707231, PMID:1715570, PMID:2479017, PMID:2480601, PMID:2773936, PMID:3827224, PMID:7573159, PMID:7574457, PMID:7683951, PMID:8696336, PMID:8786077, PMID:9056547, PMID:9482656, PMID:11071483, PMID:12910435, PMID:19396823, PMID:20301361, PMID:24088041, PMID:25326635, PMID:25491635, PMID:25741868, PMID:26125040, PMID:26633545, PMID:28492532, PMID:29451896 NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257
JBrowse link
Pseudoarylsulfatase A Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSA arylsulfatase A IAGP ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency ClinVar PMID:8101038, PMID:15326627, PMID:15720392, PMID:24001781, PMID:25741868, PMID:26462614, PMID:28492532, PMID:28670130, PMID:28762252 NCBI chr22:50,622,754...50,628,152
Ensembl chr22:50,622,754...50,628,173
JBrowse link
retinal vasculopathy with cerebral leukodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
ClinVar PMID:9371916, PMID:16845398, PMID:17293595, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:21270825, PMID:21937424, PMID:23602593, PMID:23881107, PMID:24033266, PMID:24183309, PMID:24224166, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25906927, PMID:26182405, PMID:26467025, PMID:27391121, PMID:28089741, PMID:28492532, PMID:29239743 NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
ClinVar PMID:9371916, PMID:16845398, PMID:17293595, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:21270825, PMID:21937424, PMID:23602593, PMID:23881107, PMID:24033266, PMID:24183309, PMID:24224166, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25906927, PMID:26182405, PMID:26467025, PMID:27391121, PMID:28089741, PMID:28492532, PMID:29239743 NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G TREX1 three prime repair exonuclease 1 IAGP
EXP
ClinVar Annotator: match by term: Vasculopathy, retinal, with cerebral leukodystrophy
ClinVar Annotator: match by term: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
ClinVar Annotator: match by term: Retinopathy, vascular, with cerebral and renal involvement and Raynaud and migraine phenomena
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1821204, PMID:3174024, PMID:9371916, PMID:16845398, PMID:17293595, PMID:17660818, PMID:17660820, PMID:17846997, PMID:18583934, PMID:18805785, PMID:20131292, PMID:21270825, PMID:21937424, PMID:23602593, PMID:23881107, PMID:24033266, PMID:24183309, PMID:24224166, PMID:25138095, PMID:25582466, PMID:25604658, PMID:25741868, PMID:25906927, PMID:26182405, PMID:26467025, PMID:27391121, PMID:28089741, PMID:28492532, PMID:29239743 NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Developmental Diseases 11300
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9461
        genetic disease 8930
          Nervous System Heredodegenerative Disorders 2238
            Hereditary Central Nervous System Demyelinating Diseases 44
              Dysmyelinating Leukodystrophy with Oligodontia 2
              Dysmyelination with Jaundice 0
              Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
              Krabbe disease + 3
              Leber hereditary optic neuropathy with demyelinating disease of CNS 0
              Megalencephaly with Dysmyelination 0
              Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
              Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 2
              Optic Atrophy with Demyelinating Disease of CNS 0
              early infantile epileptic encephalopathy 39 1
              hypomyelinating leukodystrophy + 25
              megalencephalic leukoencephalopathy with subcortical cysts + 3
              metachromatic leukodystrophy + 7
              retinal vasculopathy with cerebral leukodystrophy 3
Path 2
Term Annotations click to browse term
  disease 17774
    disease of anatomical entity 16335
      nervous system disease 12618
        central nervous system disease 10749
          brain disease 9979
            Metabolic Brain Diseases 624
              Metabolic Brain Diseases, Inborn 552
                Hereditary Central Nervous System Demyelinating Diseases 44
                  Dysmyelinating Leukodystrophy with Oligodontia 2
                  Dysmyelination with Jaundice 0
                  Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity 1
                  Krabbe disease + 3
                  Leber hereditary optic neuropathy with demyelinating disease of CNS 0
                  Megalencephaly with Dysmyelination 0
                  Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 1
                  Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 2
                  Optic Atrophy with Demyelinating Disease of CNS 0
                  early infantile epileptic encephalopathy 39 1
                  hypomyelinating leukodystrophy + 25
                  megalencephalic leukoencephalopathy with subcortical cysts + 3
                  metachromatic leukodystrophy + 7
                  retinal vasculopathy with cerebral leukodystrophy 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.