Neuropathy, hereditary sensory, type id

Preferred Label : Neuropathy, hereditary sensory, type id;

Symbol : HSN1D;

CISMeF acronym : HSN1D;

Type : Phenotype, molecular basis known;

Description : Autosomal dominant hereditary sensory neuropathy type 1D is characterized by adult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement (summary by Guelly et al., 2011). For a discussion of genetic heterogeneity of HSAN, see HSAN1A (162400). Spastic paraplegia-3A (SPG3A; 182600) is an allelic disorder with a different phenotype.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the atlastin-1 gene (ATL1, 606439.0010);

Prefixed ID : #613708;

Details

Origin ID

613708;

UMLS CUI

C3150972;

Automatic exact mappings (from CISMeF team)
- Hereditary sensory neuropathy type V [PASCAL descriptor]
- hereditary sensory and autonomic neuropathy type ie [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- hereditary sensory neuropathy type 1D [DO Concept]
DO Cross reference
- hereditary sensory neuropathy type 1D [DO Concept]
Genes related to phenotype
- Atlastin gtpase 1 [OMIM gene]
HPO term(s)
- Autoamputation of digits [HPO term]
- Autosomal dominant inheritance [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal sensory impairment [HPO term]
- Distal sensory impairment of all modalities [HPO term]
- Distal sensory loss of all modalities [HPO term]
- Hyperreflexia [HPO term]
- Nail dystrophy [HPO term]
- Osteomyelitis [HPO term]
- Paresthesia [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Young adult onset [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)
- hereditary sensory neuropathy type 1D [DO Concept]
Validated automatic mappings to NTBT
- Hereditary sensory and autonomic neuropathy type 1 [ORDO Disease]

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