Neuropathy, hereditary sensory and autonomic, type ia

Preferred Label : Neuropathy, hereditary sensory and autonomic, type ia;

Symbol : HSAN1A;

CISMeF acronym : HSAN1A; HSAN1; HSN1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HSAN1; Hsn ia; Hsan ia; Neuropathy, hereditary sensory radicular, autosomal dominant, type 1a; HSN1A; Neuropathy, hereditary sensory, type ia;

Description : The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the long-chain base subunit 1 of the serine palmitoyltransferase gene (SPTLC1, 605712.0001);

Prefixed ID : #162400;

Details

Origin ID

162400;

UMLS CUI

C5235211;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory neuropathy-deafness-dementia syndrome [ORDO Disease]
- SPTLC1 wt Allele [NCIt concept]
- hereditary sensory and autonomic neuropathies [MeSH Descriptor]
- serine palmitoyltransferase long chain base subunit 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy Type IA [ICD-11 More detail]
- Hereditary sensory and autonomic neuropathy type I [ICD-11 Subcategory]
- Hereditary sensory and autonomic neuropathy type I (disorder) [SNOMED CT concept]
- Hereditary sensory autonomic neuropathy type IA (disorder) [SNOMED CT concept]
- Neuropathy, Hereditary Sensory and Autonomic, Type I [NCIt concept]
- dominant hereditary sensory neuropathy, type i [SNOMED Notion]
- hereditary sensory and autonomic neuropathy type 1A [DO Concept]
- hereditary sensory neuropathy type 1 [Disease (Nov.)]
- hereditary sensory neuropathy type I [MeSH concept]
DO Cross reference
- hereditary sensory and autonomic neuropathy type 1A [DO Concept]
Genes related to phenotype
- Serine palmitoyltransferase, long-chain base subunit 1 [OMIM gene]
HPO term(s)
- Acral ulceration [HPO term]
- Areflexia [HPO term]
- Autoamputation of foot [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Chronic axonal neuropathy [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [HPO term]
- Decreased sensory nerve conduction velocity [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Distal sensory impairment of all modalities [HPO term]
- Distal sensory loss of all modalities [HPO term]
- Foot osteomyelitis [HPO term]
- Frequent falls [HPO term]
- Hand tremor [HPO term]
- Hyporeflexia [HPO term]
- Impaired distal proprioception [HPO term]
- Impaired distal tactile sensation [HPO term]
- Osteomyelitis [HPO term]
- Pes cavus [HPO term]
- Sensorineural hearing impairment [HPO term]
- Skeletal muscle atrophy [HPO term]
- Tongue fasciculations [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant sensory neuropathy (disorder) [SNOMED CT concept]
- Hereditary sensory and autonomic neuropathy Type IA [ICD-11 More detail]
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type I [ICD-11 Subcategory]
- Hereditary sensory and autonomic neuropathy type I (disorder) [SNOMED CT concept]
- Hereditary sensory autonomic neuropathy type IA (disorder) [SNOMED CT concept]
- dominant hereditary sensory neuropathy, type i [SNOMED Notion]
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]
- hereditary sensory and autonomic neuropathy type 1A [DO Concept]
- hereditary sensory neuropathy type 1 [Disease (Nov.)]
- hereditary sensory neuropathy type I [MeSH concept]
Validated automatic mappings to BTNT
- hereditary sensory and autonomic neuropathy type 1A [DO Concept]
Validated automatic mappings to NTBT
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]
- hereditary sensory and autonomic neuropathy type 1 [DO Concept]

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