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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/613640
http://purl.bioontology.org/ontology/OMIM/613640
|
|---|---|
| Preferred Name | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC |
| Synonyms |
NEUROPATHY, HEREDITARY SENSORY, TYPE IC
HSN IC
HSN1C
HSAN1C
HSAN IC
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
NEUROPATHY, HEREDITARY SENSORY, TYPE IC
HSN IC
HSN1C
HSAN1C
HSAN IC
|
|---|---|
| prefLabel | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
|
| Gene Symbol |
LCB2
SPTLC2
SPT2
KIAA0526
NSAN1C
HSN1C
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| Scope Statement | Variable age at onset (range first to third decade) [MISCELLANEOUS]
Caused by mutation in the serine palmitoyltransferase, long-chain base subunit 2 gene (SPTLC2, 605713.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 14q24.3-q31
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 613640
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3150896
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |