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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 and autonomic neuropathy type 2A
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Accession:DOID:0070155 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: HSAN IIA;   HSAN2A;   HSN IIA;   HSN2A;   acroosteolysis, Giaccai type;   hereditary sensory and autonomic neuropathy, type IIA;   hereditary sensory neuropathy, type IIA;   neurogenic acroosteolysis;   progressive sensory neuropathy, of children
 related_synonym: Morvan disease
 primary_id: OMIM:201300
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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:30564185, 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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA
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: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 OMIM:201300
ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE II
ClinVar Annotator: match by term: Neuropathy, hereditary sensory, type II
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        Nervous System Malformations 1082
          hereditary sensory neuropathy 27
            hereditary sensory and autonomic neuropathy type 2 5
              hereditary sensory and autonomic neuropathy type 2A 5
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          neurodegenerative disease 3186
            Nervous System Heredodegenerative Disorders 1947
              hereditary sensory neuropathy 27
                hereditary sensory and autonomic neuropathy type 2 5
                  hereditary sensory and autonomic neuropathy type 2A 5
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.