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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 sensory neuropathy
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Accession:DOID:0050548 term browser browse the term
Definition:A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)
Synonyms:exact_synonym: Congenital Sensory Neuropathy;   Giaccai Type Acroosteolysis;   HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY;   HSAN;   HSAN (hereditary sensory autonomic neuropathy);   congenital sensory neuropathies;   hereditary sensory and autonomic neuropathies;   hereditary sensory neuropathies;   hereditary sensory radicular neuropathy;   hereditary sensory radicular neuropathy, autosomal dominant;   hereditary sensory radicular neuropathy, autosomal recessive;   hereditary sensory radicular neuropathy, recessive form
 narrow_synonym: AMS;   acral mutilation syndrome
 primary_id: MESH:D009477
 alt_id: OMIA:001514;   RDO:0000851
 xref: OMIM:PS162400
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
hereditary sensory neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cct4 chaperonin containing TCP1 subunit 4 IMP RGD PMID:12874111 RGD:1299607 NCBI chr14:107,767,392...107,780,270
Ensembl chr14:107,767,392...107,780,270
JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO DNA:missensemutations:cds:
CTD Direct Evidence: marker/mechanism
CTD PMID:21532572, PMID:21532572 RGD:9588627 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dst dystonin ISS MouseDO NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Kif1a kinesin family member 1A ISO DNA:frameshift mutations:exon:p.Leu947Argfs¿¿¿4 (c.2840delT), p.Ser1758Glnfs¿¿¿7 (c.5271dupC) (human)
ClinVar Annotator: match by term: NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN
DNA:missense mutations: :multiple
ClinVar PMID:25741868, PMID:26467025, PMID:28492532, PMID:21820098, PMID:25265257 RGD:12911225, RGD:12911226 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO DNA:mutations: :
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds, splice junction:
DNA:insertion: :c.2086_2087insC (human)
ClinVar
CTD
PMID:11668614, PMID:19651702, PMID:18077166, PMID:18322713, PMID:20647579, PMID:19250380 RGD:5684543, RGD:5684770, RGD:5684769, RGD:5684767, RGD:5684544 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Giaccai type acroosteolysis ClinVar NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
JBrowse link
G Retreg1 reticulophagy regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19838196 NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISS MouseDO NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Giaccai type acroosteolysis
ClinVar PMID:28492532 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia OMIM
ClinVar
PMID:8409271, PMID:25130867, PMID:25741868, PMID:28328135, PMID:28492532, PMID:30041933, PMID:30419932 NCBI chr13:103,229,868...103,265,019
Ensembl chr13:103,231,387...103,264,906
JBrowse link
hereditary sensory and autonomic neuropathy type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Neuropathy hereditary sensory and autonomic type 1
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1
ClinVar PMID:11242106, PMID:11242114, PMID:11479835, PMID:12417569, PMID:13646503, PMID:14152213, PMID:15037712, PMID:15546589, PMID:16210380, PMID:16364956, PMID:18018475, PMID:19132419, PMID:19651702, PMID:19923297, PMID:20097765, PMID:20504773, PMID:21618344, PMID:22302274, PMID:23454272, PMID:24088041, PMID:24247255, PMID:24673574, PMID:25584079, PMID:25741868, PMID:26467025, PMID:26633545, PMID:26681808, PMID:28492532, PMID:30373780, PMID:31509666, PMID:32581362 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
JBrowse link
hereditary sensory and autonomic neuropathy type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptlc1 serine palmitoyltransferase, long chain base subunit 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IA, severe
ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 1A
OMIM
ClinVar
PMID:11242106, PMID:11242114, PMID:11479835, PMID:12417569, PMID:13646503, PMID:14152213, PMID:15037712, PMID:15546589, PMID:16210380, PMID:16364956, PMID:18018475, PMID:18077166, PMID:19132419, PMID:19651702, PMID:19923297, PMID:20097765, PMID:20504773, PMID:21618344, PMID:22302274, PMID:23454272, PMID:24247255, PMID:24673574, PMID:25584079, PMID:25741868, PMID:26467025, PMID:26681808, PMID:28492532, PMID:31509666, PMID:32581362 NCBI chr17:11,856,525...11,895,566
Ensembl chr17:11,856,525...11,895,566
JBrowse link
hereditary sensory and autonomic neuropathy type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahsa1 activator of Hsp90 ATPase activity 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:111,296,168...111,304,224
Ensembl chr 6:111,296,417...111,304,224
JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:111,176,798...111,187,246
Ensembl chr 6:111,176,798...111,187,244
JBrowse link
G Ism2 isthmin 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:111,309,054...111,329,967
Ensembl chr 6:111,310,060...111,329,882
JBrowse link
G Noxred1 NADP-dependent oxidoreductase domain containing 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:111,243,232...111,271,107
Ensembl chr 6:111,243,228...111,267,734
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
G Samd15 sterile alpha motif domain containing 15 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:111,223,026...111,241,326
Ensembl chr 6:111,223,026...111,241,303
JBrowse link
G Sptlc2 serine palmitoyltransferase, long chain base subunit 2 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IC
ClinVar Annotator: match by OMIM:613640
OMIM
ClinVar
PMID:19564159, PMID:20920666, PMID:23658386, PMID:24175284, PMID:25567748, PMID:25741868, PMID:26467025, PMID:26573920, PMID:26681808, PMID:27549087, PMID:28492532, PMID:29042446, PMID:29184351, PMID:30866134, PMID:30955194, PMID:31509666 NCBI chr 6:111,334,408...111,417,960
Ensembl chr 6:111,339,136...111,417,954
JBrowse link
G Tmed8 transmembrane p24 trafficking protein family member 8 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:111,188,938...111,222,866
Ensembl chr 6:111,194,951...111,222,858
JBrowse link
G Vipas39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IC ClinVar PMID:28492532 NCBI chr 6:111,271,283...111,296,013
Ensembl chr 6:111,271,240...111,295,994
JBrowse link
hereditary sensory and autonomic neuropathy type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II ClinVar PMID:25741868, PMID:28492532 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II ClinVar NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II ClinVar PMID:28492532 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
hereditary sensory and autonomic neuropathy type 2A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA
CTD
ClinVar
PMID:21376300, PMID:21487076, PMID:21820098, PMID:22258533, PMID:25265257, PMID:25585697, PMID:25741868, PMID:26125038, PMID:26354034, PMID:26410750, PMID:26467025, PMID:26486474, PMID:27034427, PMID:28332297, PMID:28362824, PMID:28492532, PMID:28708278, PMID:28835676, PMID:28970574, PMID:30564185, PMID:31616253, PMID:32096284 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Rad52 RAD52 homolog, DNA repair protein ISO ClinVar Annotator: match by term: Neurogenic acroosteolysis ClinVar NCBI chr 4:152,429,826...152,451,875
Ensembl chr 4:152,430,187...152,451,609
JBrowse link
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by OMIM:201300
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19838196, PMID:28492532 NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA
CTD
ClinVar
PMID:374104, PMID:8610490, PMID:9037087, PMID:10514109, PMID:10852559, PMID:10852560, PMID:12210380, PMID:14985375, PMID:15385606, PMID:15929046, PMID:15955112, PMID:15958509, PMID:16392115, PMID:16702558, PMID:17145499, PMID:17167479, PMID:17470132, PMID:17597096, PMID:17679678, PMID:18414213, PMID:18518989, PMID:18524793, PMID:18599537, PMID:19304393, PMID:19369487, PMID:19549232, PMID:19557861, PMID:19763161, PMID:20301342, PMID:20478850, PMID:20628234, PMID:20635406, PMID:21094958, PMID:21115638, PMID:21118538, PMID:21698661, PMID:21939494, PMID:22035805, PMID:22136189, PMID:22539570, PMID:22604722, PMID:22826602, PMID:22995991, PMID:23129781, PMID:23149731, PMID:23280954, PMID:23292638, PMID:23450472, PMID:23596073, PMID:23874707, PMID:23895530, PMID:24033266, PMID:24088041, PMID:24776970, PMID:24817410, PMID:24820863, PMID:24848745, PMID:25250524, PMID:25253744, PMID:25316021, PMID:25326635, PMID:25333069, PMID:25348405, PMID:25401298, PMID:25741868, PMID:25852444, PMID:25993546, PMID:25995458, PMID:26264438, PMID:26284228, PMID:26392352, PMID:26467025, PMID:26633545, PMID:26675522, PMID:26920677, PMID:27413160, PMID:27504264, PMID:27843123, PMID:27884173, PMID:27956748, PMID:28073787, PMID:28116328, PMID:28235406, PMID:28440294, PMID:28492532, PMID:28590052, PMID:28842445, PMID:29176367, PMID:29264398, PMID:29358611, PMID:29500686, PMID:29911575, PMID:29924869, PMID:29978519, PMID:30311386, PMID:30316835, PMID:30642272, PMID:30795902, PMID:30834459, PMID:32581362 NCBI chr 3:52,583,953...52,664,209
Ensembl chr 3:52,583,951...52,664,209
JBrowse link
G Wnk1 WNK lysine deficient protein kinase 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA
ClinVar Annotator: match by term: Neurogenic acroosteolysis
ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type II
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE II
ClinVar Annotator: match by OMIM:201300
OMIM
ClinVar
PMID:15060842, PMID:15455397, PMID:15911806, PMID:16534117, PMID:16636245, PMID:16946995, PMID:18521183, PMID:18580052, PMID:19651702, PMID:21530900, PMID:21625937, PMID:22302274, PMID:22910560, PMID:22934535, PMID:23149595, PMID:25741868, PMID:26467025, PMID:27066579, PMID:27671536, PMID:27765018, PMID:28422281, PMID:28492532, PMID:29701257, PMID:29911575, PMID:30497409, PMID:31132985 NCBI chr 4:152,452,211...152,578,469
Ensembl chr 4:152,452,848...152,578,446
JBrowse link
hereditary sensory and autonomic neuropathy type 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Retreg1 reticulophagy regulator 1 ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIB
ClinVar Annotator: match by OMIM:613115
OMIM
ClinVar
PMID:19838196, PMID:24327336, PMID:25741868, PMID:28492532 NCBI chr 2:78,391,921...78,401,569
Ensembl chr 2:78,391,921...78,399,987
JBrowse link
hereditary sensory and autonomic neuropathy type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ngf nerve growth factor ISO ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers ClinVar
OMIM
PMID:14976160, PMID:15131306, PMID:18420729, PMID:19038341, PMID:19945432, PMID:20978020, PMID:21358750, PMID:21387003, PMID:22330829, PMID:25741868, PMID:26215504, PMID:28492532 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers ClinVar PMID:24207120, PMID:25741868 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
hereditary sensory and autonomic neuropathy type 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dst dystonin ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VI
ClinVar Annotator: match by OMIM:614653
OMIM
ClinVar
PMID:20164846, PMID:22522446, PMID:24033266, PMID:25059916, PMID:25741868, PMID:28492532, PMID:28558912, PMID:31474762 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
hereditary sensory and autonomic neuropathy type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn11a sodium voltage-gated channel alpha subunit 11 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VII OMIM
ClinVar
PMID:24036948, PMID:24207120, PMID:24776970, PMID:25118027, PMID:25741868, PMID:25791876, PMID:26423924, PMID:26746779, PMID:28289907, PMID:28298626, PMID:28492532, PMID:29213238, PMID:29389947, PMID:29419974, PMID:30046661, PMID:30395542, PMID:30533233, PMID:30557356, PMID:32581362 NCBI chr 8:128,450,793...128,527,510
Ensembl chr 8:128,450,801...128,521,109
JBrowse link
hereditary sensory and autonomic neuropathy type 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prdm12 PR/SET domain 12 ISO ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type VIII OMIM
ClinVar
PMID:25741868, PMID:25891934, PMID:26005867, PMID:28492532 NCBI chr 3:10,181,104...10,199,185
Ensembl chr 3:10,181,924...10,196,626
JBrowse link
hereditary sensory neuropathy type 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Hereditary sensory neuropathy type 1D
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
ClinVar Annotator: match by OMIM:613708
OMIM
ClinVar
PMID:21194679, PMID:25741868, PMID:28492532 NCBI chr 6:92,229,764...92,370,428
Ensembl chr 6:92,229,686...92,370,421
JBrowse link
hereditary sensory neuropathy type 1E term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, WITH HEARING LOSS AND DEMENTIA
ClinVar Annotator: match by term: Hereditary sensory neuropathy type IE
ClinVar Annotator: match by term: Dementia, Deafness, and Sensory Neuropathy
ClinVar Annotator: match by OMIM:614116
OMIM
ClinVar
PMID:7898717, PMID:10210919, PMID:21532572, PMID:22328086, PMID:23365052, PMID:24727570, PMID:25326637, PMID:25678562, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30165906, PMID:30311386 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
hereditary sensory neuropathy type 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl3 atlastin GTPase 3 ISO ClinVar Annotator: match by term: Hereditary sensory neuropathy type IF
ClinVar Annotator: match by OMIM:615632
OMIM
ClinVar
PMID:24459106, PMID:24736309, PMID:28492532, PMID:30680846 NCBI chr 1:222,746,023...222,788,439
Ensembl chr 1:222,746,023...222,786,942
JBrowse link
hereditary sensory neuropathy type 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIC
ClinVar Annotator: match by OMIM:614213
OMIM
ClinVar
PMID:18414213, PMID:21376300, PMID:21820098, PMID:22258533, PMID:25265257, PMID:25741868, PMID:26077850, PMID:26467025, PMID:28492532, PMID:28970574, PMID:29590070, PMID:31616253 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
hereditary sensory neuropathy type 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor-related receptor ISO ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV ClinVar NCBI chr 2:187,161,817...187,181,400
Ensembl chr 2:187,162,017...187,181,395
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: HSAN 4
ClinVar Annotator: match by term: Hereditary Sensory and Autonomic Neuropathy Type IV
ClinVar Annotator: match by term: FAMILIAL DYSAUTONOMIA, TYPE II
OMIM
ClinVar
PMID:77656, PMID:0233776, PMID:8696348, PMID:10090906, PMID:10233776, PMID:10330344, PMID:10443680, PMID:10861667, PMID:10982191, PMID:11071380, PMID:11139246, PMID:11159935, PMID:11310631, PMID:11668614, PMID:11719521, PMID:11748840, PMID:12210794, PMID:12406349, PMID:12949319, PMID:15534759, PMID:16373086, PMID:18056464, PMID:18179783, PMID:18322713, PMID:19250380, PMID:19598235, PMID:19618435, PMID:19651702, PMID:20003389, PMID:21708027, PMID:22032467, PMID:22302274, PMID:22397633, PMID:22653642, PMID:22957891, PMID:23112235, PMID:23241418, PMID:23799134, PMID:24088041, PMID:24154508, PMID:25359976, PMID:25741868, PMID:26215504, PMID:26467025, PMID:26633545, PMID:27058611, PMID:27265460, PMID:27544236, PMID:27551041, PMID:27676246, PMID:27698470, PMID:28192073, PMID:28328124, PMID:28345382, PMID:28492532, PMID:28981924, PMID:29619836, PMID:29770739, PMID:30774415, PMID:32214227 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
Riley-Day syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Familial dysautonomia
ClinVar Annotator: match by OMIM:223900
ClinVar
OMIM
PMID:9536098, PMID:10090896, PMID:11179008, PMID:11179021, PMID:12116234, PMID:12687659, PMID:16964593, PMID:17206408, PMID:18303054, PMID:20301359, PMID:22190446, PMID:22850346, PMID:23515154, PMID:24033266, PMID:24173031, PMID:24995671, PMID:25741868, PMID:26264438, PMID:26392352, PMID:27065010, PMID:27104957, PMID:27582484, PMID:28492532, PMID:11179008, PMID:11179021 RGD:5129156, RGD:5129155 NCBI chr 5:73,503,406...73,552,798
Ensembl chr 5:73,503,407...73,552,798
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        Nervous System Malformations 1100
          hereditary sensory neuropathy 27
            CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
            Cervical Hypertrichosis Neuropathy 0
            Hamanishi Ueba Tsuji Syndrome 0
            Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia 0
            Riley-Day syndrome + 1
            atypical hereditary sensory neuropathy 0
            hereditary sensory and autonomic neuropathy type 1 + 13
            hereditary sensory and autonomic neuropathy type 2 + 5
            hereditary sensory and autonomic neuropathy type 5 2
            hereditary sensory and autonomic neuropathy type 6 1
            hereditary sensory and autonomic neuropathy type 7 1
            hereditary sensory and autonomic neuropathy type 8 1
            hereditary sensory neuropathy X-linked 0
            hereditary sensory neuropathy type 4 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              hereditary sensory neuropathy 27
                CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 1
                Cervical Hypertrichosis Neuropathy 0
                Hamanishi Ueba Tsuji Syndrome 0
                Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia 0
                Riley-Day syndrome + 1
                atypical hereditary sensory neuropathy 0
                hereditary sensory and autonomic neuropathy type 1 + 13
                hereditary sensory and autonomic neuropathy type 2 + 5
                hereditary sensory and autonomic neuropathy type 5 2
                hereditary sensory and autonomic neuropathy type 6 1
                hereditary sensory and autonomic neuropathy type 7 1
                hereditary sensory and autonomic neuropathy type 8 1
                hereditary sensory neuropathy X-linked 0
                hereditary sensory neuropathy type 4 2
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.