Neuropathy, hereditary sensory and autonomic, type VII

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

Symbol : HSAN7;

CISMeF acronym : HSAN7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Insensitivity to pain, congenital, with gastrointestinal dysfunction and hyperhidrosis; Hsan VII;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated sodium channel, type XI, alpha subunit gene (SCN11A, 604385.0001);

Prefixed ID : #615548;

Détails

Origin ID

615548;

UMLS CUI

C3809882;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory and autonomic neuropathy type 7 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy type 7 [ORDO Disease]
- Neuropathy, Hereditary Sensory and Autonomic, Type VII [NCIt concept]
- hereditary sensory and autonomic neuropathy type 7 [DO Concept]
DO Cross reference
- hereditary sensory and autonomic neuropathy type 7 [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 11 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Constipation [HPO term]
- Diarrhea [HPO term]
- Hyperhidrosis [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Pain insensitivity [HPO term]
- Pruritus [HPO term]
- Self-injurious behavior [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy type 7 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory and autonomic neuropathy type 7 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type 7 (disorder) [SNOMED CT concept]
- Neuropathy, Hereditary Sensory and Autonomic, Type VII [NCIt concept]
- hereditary sensory and autonomic neuropathy type 7 [DO Concept]

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