loading...| Preferred Name | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA | |
| Synonyms |
HSAN IIA HSN IIA NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE HSAN2A NEUROPATHY, HEREDITARY SENSORY, TYPE IIA MORVAN DISEASE HSN2A NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN ACROOSTEOLYSIS, GIACCAI TYPE ACROOSTEOLYSIS, NEUROGENIC NEUROPATHY, CONGENITAL SENSORY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/201300 |
|
| altLabel |
HSAN IIA HSN IIA NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE HSAN2A NEUROPATHY, HEREDITARY SENSORY, TYPE IIA MORVAN DISEASE HSN2A NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN ACROOSTEOLYSIS, GIACCAI TYPE ACROOSTEOLYSIS, NEUROGENIC NEUROPATHY, CONGENITAL SENSORY |
|
| cui |
C2752089 C3854373 |
|
| Gene Locus |
12p13 |
|
| Gene Symbol |
HSAN2 PHA2C KDP WNK1 PRKWNK1 HSN2 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU014748 http://purl.bioontology.org/ontology/OMIM/MTHU014745 http://purl.bioontology.org/ontology/OMIM/MTHU000329 http://purl.bioontology.org/ontology/OMIM/MTHU014749 http://purl.bioontology.org/ontology/OMIM/MTHU014742 http://purl.bioontology.org/ontology/OMIM/MTHU014739 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU014746 http://purl.bioontology.org/ontology/OMIM/MTHU013361 http://purl.bioontology.org/ontology/OMIM/MTHU014744 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000717 http://purl.bioontology.org/ontology/OMIM/MTHU014737 http://purl.bioontology.org/ontology/OMIM/MTHU002522 http://purl.bioontology.org/ontology/OMIM/MTHU014747 http://purl.bioontology.org/ontology/OMIM/MTHU009396 http://purl.bioontology.org/ontology/OMIM/MTHU007334 http://purl.bioontology.org/ontology/OMIM/MTHU014750 http://purl.bioontology.org/ontology/OMIM/MTHU014741 http://purl.bioontology.org/ontology/OMIM/MTHU001888 http://purl.bioontology.org/ontology/OMIM/MTHU001815 http://purl.bioontology.org/ontology/OMIM/MTHU014738 http://purl.bioontology.org/ontology/OMIM/MTHU001330 http://purl.bioontology.org/ontology/OMIM/MTHU014740 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
210300 |
|
| notation |
201300 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA |
|
| Scope Statement |
High disease prevalence among French-Canadians [MISCELLANEOUS] Caused by mutation in the HSN2 isoform of the protein kinase, lysine-deficient 1 gene (WNK1, 605232.0003) [MOLECULAR BASIS] Slow progression [MISCELLANEOUS] Onset in infancy or early childhood [MISCELLANEOUS] |
|
| tui |
T047 |