Neuropathy, Hereditary Sensory, Type Id (HSN1D)

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Disease Ontology 12 DOID:0070156 OMIM 58 613708 MeSH 45 D009477

MedGen 43 C3150972 SNOMED-CT via HPO 70 111253001 128208007 205091006 252157006 255314001 263681008 60168000 60703000 86854008 87065009 91019004 more UMLS 74 C3150972

OMIM : ⁵⁸ 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. (613708)

MalaCards based summary : Neuropathy, Hereditary Sensory, Type Id, also known as hereditary sensory neuropathy type 1d, is related to neuropathy, hereditary sensory, type ie. An important gene associated with Neuropathy, Hereditary Sensory, Type Id is ATL1 (Atlastin GTPase 1). Related phenotypes are hyperreflexia and nail dystrophy

Disease Ontology : ¹² A hereditary sensory and autonomic neuropathy type 1 characterized dult 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 that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.

UniProtKB/Swiss-Prot : ⁷⁶ Neuropathy, hereditary sensory, 1D: A disease characterized by adult-onset distal axonal sensory neuropathy leading to mutilating ulcerations as well as hyporeflexia. Some patients may show features suggesting upper neuron involvement.

Clinical features from OMIM:

613708

Search Clinical Trials , NIH Clinical Center for Neuropathy, Hereditary Sensory, Type Id

Search GEO for disease gene expression data for Neuropathy, Hereditary Sensory, Type Id.