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HSN1D
MCID: NRP039
MIFTS: 23
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Neuropathy, Hereditary Sensory, Type Id (HSN1D)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Neuropathy, Hereditary Sensory, Type Id:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
adult onset progressive disorder allelic disorder to spastic paraplegia-3 (spg3, ) HPO:32
neuropathy, hereditary sensory, type id:
Onset and clinical course adult onset progressive Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Ear diseases Mental diseases Bone diseases |
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OMIM
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57
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). Affiliated tissues include bone, and 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 : 75 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. |
Diseases in the Hereditary Sensory Neuropathy family:
Diseases related to Neuropathy, Hereditary Sensory, Type Id via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613708Human phenotypes related to Neuropathy, Hereditary Sensory, Type Id:32 (show all 11)
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MalaCards organs/tissues related to Neuropathy, Hereditary Sensory, Type Id:41
Bone
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UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory, Type Id:75
ClinVar genetic disease variations for Neuropathy, Hereditary Sensory, Type Id:6 (show all 11)
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Search
GEO
for disease gene expression data for Neuropathy, Hereditary Sensory, Type Id.
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