Neuropathy, hereditary sensory and autonomic, type VI

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

Symbol : HSAN6;

CISMeF acronym : HSAN6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hsan VI;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dystonin gene (DST, 113810.0001);

Prefixed ID : #614653;

Details

Origin ID

614653;

UMLS CUI

C3539003;

Automatic exact mappings (from CISMeF team)
- DST wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Hereditary sensory and autonomic neuropathy type 6 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type 6 (disorder) [SNOMED CT concept]
- hereditary sensory and autonomic neuropathy type 6 [DO Concept]
DO Cross reference
- hereditary sensory and autonomic neuropathy type 6 [DO Concept]
Genes related to phenotype
- Dystonin [OMIM gene]
HPO term(s)
- Alacrima [HPO term]
- Apnea [HPO term]
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blotching pigmentation of the skin [HPO term]
- Bradycardia [HPO term]
- Corneal scarring [HPO term]
- Feeding difficulties [HPO term]
- Fever [HPO term]
- Flexion contracture [HPO term]
- Growth delay [HPO term]
- Hand clenching [HPO term]
- High palate [HPO term]
- Hyperhidrosis [HPO term]
- Limited hip extension [HPO term]
- Low-set ears [HPO term]
- Neonatal hypotonia [HPO term]
- Open mouth [HPO term]
- Respiratory insufficiency [HPO term]
- Sensory neuropathy [HPO term]
- Short chin [HPO term]
- Tachycardia [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Hereditary sensory and autonomic neuropathy type 6 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary sensory and autonomic neuropathy type 6 [ORDO Disease]
- Hereditary sensory and autonomic neuropathy type 6 (disorder) [SNOMED CT concept]
- hereditary sensory and autonomic neuropathy type 6 [DO Concept]

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