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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:homocystinuria
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Accession:DOID:9263 term browser browse the term
Definition:Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
Synonyms:exact_synonym: CBS Deficiencies;   CBS Deficiency;   Cystathionine Beta Synthase Deficiency;   Cystathionine beta Synthase Deficiency Disease;   HOMOCYSTINURIA DUE TO CBS DEFICIENCY;   HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;   HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE;   Homocystinuria, Pyridoxine-Nonresponsive;   Hyperhomocysteinemia, Thrombotic, CBS-Related;   cystathionine synthase deficiency
 narrow_synonym: CBS Deficiency Hyperhomocysteinemia, Thrombotic, CBS-Related;   HOMOCYSTINURIA WITHOUT METHYLMALONIC ACIDURIA
 primary_id: MESH:D006712;   RDO:0003188
 alt_id: OMIM:236200
 xref: GARD:10770;   ICD10CM:E72.11;   NCI:C84765;   ORDO:394
For additional species annotation, visit the Alliance of Genome Resources.


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homocystinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: CBS deficiency
ClinVar Annotator: match by term: Homocystinuria
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency
ClinVar Annotator: match by OMIM:236200
ClinVar
OMIM
PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7564249, PMID:7581402, PMID:7611293, PMID:7635485, PMID:7762555, PMID:7849717, PMID:7967489, PMID:7981678, PMID:8353501, PMID:8528202, PMID:8554066, PMID:8744616, PMID:8755636, PMID:8803779, PMID:8940271, PMID:8940285, PMID:8990018, PMID:9156316, PMID:9232191, PMID:9266356, PMID:9361025, PMID:9587029, PMID:9590298, PMID:9708897, PMID:9813456, PMID:9864922, PMID:9870207, PMID:9889017, PMID:10215408, PMID:10328723, PMID:10338090, PMID:10363126, PMID:10364517, PMID:10408774, PMID:10531322, PMID:10687314, PMID:10780316, PMID:10807759, PMID:11204591, PMID:11230183, PMID:11343305, PMID:11359213, PMID:11434706, PMID:11524006, PMID:11553052, PMID:11774777, PMID:12007221, PMID:12124992, PMID:12269827, PMID:12379655, PMID:12552044, PMID:12686134, PMID:12815602, PMID:12828591, PMID:14635102, PMID:14722619, PMID:14722927, PMID:14972327, PMID:15087459, PMID:15146473, PMID:15192637, PMID:15365998, PMID:15494741, PMID:15993874, PMID:16205833, PMID:16245937, PMID:16307898, PMID:16375773, PMID:16429402, PMID:16470595, PMID:16479318, PMID:16619244, PMID:16786517, PMID:17069888, PMID:17072863, PMID:17319270, PMID:17327360, PMID:17352495, PMID:17540596, PMID:18201569, PMID:18280597, PMID:18423051, PMID:18454451, PMID:18708589, PMID:18805305, PMID:18950795, PMID:19232736, PMID:19370759, PMID:19429038, PMID:19819175, PMID:19906435, PMID:19914636, PMID:20066033, PMID:20308073, PMID:20455263, PMID:20490928, PMID:20506325, PMID:20567906, PMID:20601281, PMID:20694756, PMID:20821054, PMID:20871414, PMID:21030686, PMID:21062078, PMID:21240075, PMID:21517828, PMID:21520339, PMID:21626167, PMID:21957013, PMID:22002135, PMID:22069143, PMID:22267502, PMID:22333527, PMID:22353391, PMID:22382802, PMID:22612060, PMID:22738154, PMID:22891245, PMID:22977242, PMID:22985361, PMID:23592311, PMID:23733603, PMID:23812867, PMID:23934999, PMID:23974653, PMID:23981774, PMID:24033266, PMID:24138954, PMID:24211323, PMID:24613005, PMID:24990611, PMID:25044645, PMID:25087612, PMID:25197074, PMID:25218699, PMID:25326637, PMID:25331909, PMID:25516723, PMID:25741868, PMID:25939784, PMID:26464485, PMID:26750749, PMID:27243974, PMID:27959664, PMID:28421128, PMID:28488385, PMID:28492532, PMID:28550590, PMID:28583326, PMID:28980096, PMID:29326875, PMID:29352562, PMID:29508359, PMID:29650765, PMID:30246729, PMID:30311386, PMID:30732165, PMID:32245022, PMID:7506602 RGD:1600622 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Fcrl2 Fc receptor-like 2 ISO RGD PMID:10679944 RGD:1601421 NCBI chr 2:186,594,442...186,605,115
Ensembl chr 2:186,595,051...186,606,172
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516, PMID:16311595, PMID:16714133, PMID:17853453, PMID:18245139, PMID:19370762, PMID:19700356, PMID:25672861, PMID:25689098, PMID:25741868, PMID:26825575, PMID:28492532 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO
ISS
DNA:missense mutations, nonsense mutations:cds:multiple (human)
OMIM:236200 | OMIM:236250
MouseDO PMID:10679944 RGD:1601421 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736, PMID:9235907, PMID:12068375, PMID:25526710, PMID:25558065, PMID:25741868, PMID:25856670, PMID:28492532, PMID:28666289, PMID:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO DNA:polymorphisms,mutations: :
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10484769, PMID:12555939, PMID:15714522, PMID:24033266, PMID:15714522 RGD:5508189 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 9:26,164,969...26,736,704 JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive
ClinVar PMID:1301198, PMID:2056790, PMID:6711564, PMID:7506602, PMID:7611293, PMID:7635485, PMID:7762555, PMID:8353501, PMID:8528202, PMID:8554066, PMID:8755636, PMID:8803779, PMID:8940271, PMID:8990018, PMID:9156316, PMID:9232191, PMID:9361025, PMID:9587029, PMID:9708897, PMID:9864922, PMID:10215408, PMID:10328723, PMID:10338090, PMID:10364517, PMID:10408774, PMID:10531322, PMID:10807759, PMID:11230183, PMID:11343305, PMID:11359213, PMID:11434706, PMID:12007221, PMID:12124992, PMID:12269827, PMID:12552044, PMID:12686134, PMID:14635102, PMID:14722619, PMID:14722927, PMID:14972327, PMID:15087459, PMID:15146473, PMID:15192637, PMID:15365998, PMID:16245937, PMID:16307898, PMID:16375773, PMID:16479318, PMID:16619244, PMID:17072863, PMID:17540596, PMID:18201569, PMID:18805305, PMID:19232736, PMID:19819175, PMID:20066033, PMID:20490928, PMID:20506325, PMID:20567906, PMID:21520339, PMID:22069143, PMID:22267502, PMID:22333527, PMID:22612060, PMID:22738154, PMID:23592311, PMID:23974653, PMID:24033266, PMID:24211323, PMID:25044645, PMID:25218699, PMID:25331909, PMID:25516723, PMID:25741868, PMID:26750749, PMID:28488385, PMID:28492532, PMID:28583326, PMID:29650765, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:236270
OMIM
ClinVar
PMID:1060915, PMID:2860337, PMID:6700644, PMID:9501215, PMID:10484769, PMID:12555939, PMID:12971424, PMID:15292234, PMID:15494741, PMID:15714522, PMID:20120036, PMID:22887477, PMID:25526710, PMID:25741868, PMID:25978498, PMID:28492532, PMID:30041674 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by OMIM:236250
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
OMIM
ClinVar
PMID:1522835, PMID:3347350, PMID:3580562, PMID:6381059, PMID:7564788, PMID:7647779, PMID:7726158, PMID:7741859, PMID:7920641, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8940272, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545406, PMID:9737770, PMID:9781030, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10551815, PMID:10732818, PMID:10767000, PMID:10869114, PMID:10923034, PMID:10930360, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12673793, PMID:12733064, PMID:12796225, PMID:12840091, PMID:12915598, PMID:14647408, PMID:15048559, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17409006, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18523009, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20236116, PMID:20356773, PMID:20490923, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:21778025, PMID:22143415, PMID:22838948, PMID:22887477, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:24797679, PMID:24997712, PMID:25007187, PMID:25024447, PMID:25065700, PMID:25079578, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25736335, PMID:25741868, PMID:25778468, PMID:25856670, PMID:26014925, PMID:26025547, PMID:26872964, PMID:26898294, PMID:27399166, PMID:27743313, PMID:27768236, PMID:28492532, PMID:28696419, PMID:29391032, PMID:29683944, PMID:30311386 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:25741868 NCBI chr 6:47,737,814...47,812,219
Ensembl chr 6:47,774,060...47,848,075
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:24011988, PMID:25167861, PMID:25281006, PMID:25741868, PMID:26893841, PMID:27403441 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by OMIM:277400
OMIM
ClinVar
CTD
PMID:11261516, PMID:11320193, PMID:16311595, PMID:16714133, PMID:17431913, PMID:17768669, PMID:17853453, PMID:18164228, PMID:18245139, PMID:19370762, PMID:19700356, PMID:19760748, PMID:19767224, PMID:19914430, PMID:20219402, PMID:20549364, PMID:20610126, PMID:20631720, PMID:20652818, PMID:20924684, PMID:21055272, PMID:21114891, PMID:21228398, PMID:21748409, PMID:21835369, PMID:22447314, PMID:22560872, PMID:22642810, PMID:23580368, PMID:23757202, PMID:23825108, PMID:23837176, PMID:23954310, PMID:24033266, PMID:24126030, PMID:24210589, PMID:24577983, PMID:24599607, PMID:25388550, PMID:25398587, PMID:25511120, PMID:25672861, PMID:25687216, PMID:25689098, PMID:25741868, PMID:25772322, PMID:25809485, PMID:25894566, PMID:26149271, PMID:26270766, PMID:26283149, PMID:26287336, PMID:26412180, PMID:26563984, PMID:26658511, PMID:26825575, PMID:26979128, PMID:26990548, PMID:27252276, PMID:27383490, PMID:27751223, PMID:28151490, PMID:28218226, PMID:28327205, PMID:28454995, PMID:28492532, PMID:28693988, PMID:29042959, PMID:29294253, PMID:29379858, PMID:29396438, PMID:30157807 NCBI chr 5:135,555,587...135,561,723
Ensembl chr 5:135,555,565...135,561,914
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC ClinVar
OMIM
PMID:29396438 NCBI chr 5:135,536,413...135,551,986
Ensembl chr 5:135,536,413...135,551,990
JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
ClinVar Annotator: match by OMIM:614857
OMIM
ClinVar
PMID:22922874, PMID:25741868, PMID:28492532 NCBI chr 6:108,315,026...108,329,550
Ensembl chr 6:108,315,035...108,329,464
JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835, PMID:7564788, PMID:7647779, PMID:7741859, PMID:8542260, PMID:8554053, PMID:8554066, PMID:8616944, PMID:8771990, PMID:8826441, PMID:8837319, PMID:8892013, PMID:8903338, PMID:8981967, PMID:8994411, PMID:9133512, PMID:9192280, PMID:9244205, PMID:9341863, PMID:9372726, PMID:9453374, PMID:9545395, PMID:9545406, PMID:9737770, PMID:9789068, PMID:9798595, PMID:9843036, PMID:9863598, PMID:10196703, PMID:10323741, PMID:10440833, PMID:10677336, PMID:10732818, PMID:10869114, PMID:10930360, PMID:10958762, PMID:11121176, PMID:11140843, PMID:11418485, PMID:11590551, PMID:11742092, PMID:11752418, PMID:11781870, PMID:11807890, PMID:11863127, PMID:11888585, PMID:11929966, PMID:11938441, PMID:12080391, PMID:12095808, PMID:12154064, PMID:12165282, PMID:12196644, PMID:12221667, PMID:12356947, PMID:12383688, PMID:12384649, PMID:12387655, PMID:12400059, PMID:12406076, PMID:12428084, PMID:12453860, PMID:12529699, PMID:12560871, PMID:12796225, PMID:12915598, PMID:14647408, PMID:15051775, PMID:15054400, PMID:15103709, PMID:15154859, PMID:15173232, PMID:15534175, PMID:15543147, PMID:15565101, PMID:15704130, PMID:15729744, PMID:15781665, PMID:15806605, PMID:15808177, PMID:15951337, PMID:16013960, PMID:16019535, PMID:16172608, PMID:16244782, PMID:16365871, PMID:16402130, PMID:16432849, PMID:16462575, PMID:16463153, PMID:16470725, PMID:16501586, PMID:16712703, PMID:16800002, PMID:16870553, PMID:17180579, PMID:17284634, PMID:17323057, PMID:17350979, PMID:17436239, PMID:17488658, PMID:17512587, PMID:17543893, PMID:17726486, PMID:17898028, PMID:18458567, PMID:18583979, PMID:18704422, PMID:18987660, PMID:19159907, PMID:19307503, PMID:19648163, PMID:20154341, PMID:20638924, PMID:21605004, PMID:21644011, PMID:21747412, PMID:22143415, PMID:22838948, PMID:22992668, PMID:23089671, PMID:23488607, PMID:23648444, PMID:23775025, PMID:24241962, PMID:24637499, PMID:25007187, PMID:25065700, PMID:25110820, PMID:25227144, PMID:25303299, PMID:25778468, PMID:26014925, PMID:27399166, PMID:28696419, PMID:29683944, PMID:30311386 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4072
          homocystinuria 11
            Homocystinuria, Pyridoxine-Responsive 1
            Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 1
            Methylenetetrahydrofolate Reductase Deficiency 1
            Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
            Mthfr Deficiency, Thermolabile Type 1
            methylmalonic aciduria and homocystinuria type cblC 4
Path 2
Term Annotations click to browse term
  disease 16096
    Nutritional and Metabolic Diseases 4713
      disease of metabolism 4713
        acquired metabolic disease 2787
          nutrition disease 915
            Malnutrition 196
              nutritional deficiency disease 188
                Avitaminosis 108
                  Vitamin B Deficiency 68
                    hyperhomocysteinemia 47
                      homocystinuria 11
                        Homocystinuria, Pyridoxine-Responsive 1
                        Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type 1
                        Methylenetetrahydrofolate Reductase Deficiency 1
                        Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
                        Mthfr Deficiency, Thermolabile Type 1
                        methylmalonic aciduria and homocystinuria type cblC 4
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.