MCID: NRP039
MIFTS: 21

Neuropathy, Hereditary Sensory, Type Id

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Ear diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory, Type Id

MalaCards integrated aliases for Neuropathy, Hereditary Sensory, Type Id:

Name: Neuropathy, Hereditary Sensory, Type Id 57 13 73
Hsn1d 57 12 75
Hereditary Sensory Neuropathy Type Id 12 75
Hereditary Sensory Neuropathy Type 1d 29 6
Neuropathy, Sensory, Hereditary, Type Id 40
Neuropathy, Hereditary Sensory, 1d 75

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:



External Ids:

OMIM 57 613708
Disease Ontology 12 DOID:0070156
MedGen 42 C3150972
MeSH 44 D009477
UMLS 73 C3150972

Summaries for Neuropathy, Hereditary Sensory, Type Id

OMIM : 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 hsn1d, 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 autoamputation and hyperreflexia

Disease Ontology : 12 A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy 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.

Related Diseases for Neuropathy, Hereditary Sensory, Type Id

Diseases in the Hereditary Sensory Neuropathy family:

Neuropathy, Hereditary Sensory, Type Id Neuropathy, Hereditary Sensory, Type Ie
Neuropathy, Hereditary Sensory, Type Iic Neuropathy, Hereditary Sensory, Type if
Sensory Neuropathy Type 1

Diseases related to Neuropathy, Hereditary Sensory, Type Id via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuropathy, hereditary sensory, type ie 11.0

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory, Type Id

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
paresthesia
distal sensory loss of all modalities (pain, temperature, touch, vibration)
lower limbs more affected than upper limbs
sensorimotor axonal neuropathy
reflexes may be decreased, normal, or increased
more
Skeletal Hands:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy

Skin Nails Hair Skin:
ulcers, distal, painless, due to sensory neuropathy

Neurologic Central Nervous System:
upper motor involvement (some patient)
hyperreflexia (some patients)
spasticity in infancy (1 patient)

Skin Nails Hair Nails:
dystrophic nails

Skeletal Feet:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy
pes cavus, mild

Muscle Soft Tissue:
distal limb muscular atrophy due to peripheral neuropathy
distal limb muscular weakness due to peripheral neuropathy


Clinical features from OMIM:

613708

Human phenotypes related to Neuropathy, Hereditary Sensory, Type Id:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 autoamputation 32 HP:0001218
2 hyperreflexia 32 occasional (7.5%) HP:0001347
3 pes cavus 32 HP:0001761
4 nail dysplasia 32 HP:0002164
5 distal sensory impairment 32 HP:0002936
6 paresthesia 32 HP:0003401
7 peripheral axonal neuropathy 32 HP:0003477
8 distal amyotrophy 32 HP:0003693
9 distal sensory loss of all modalities 32 HP:0006984
10 nail dystrophy 32 HP:0008404

Drugs & Therapeutics for Neuropathy, Hereditary Sensory, Type Id

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

Genetic Tests for Neuropathy, Hereditary Sensory, Type Id

Genetic tests related to Neuropathy, Hereditary Sensory, Type Id:

# Genetic test Affiliating Genes
1 Hereditary Sensory Neuropathy Type 1d 29 ATL1

Anatomical Context for Neuropathy, Hereditary Sensory, Type Id

Publications for Neuropathy, Hereditary Sensory, Type Id

Variations for Neuropathy, Hereditary Sensory, Type Id

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory, Type Id:

75
# Symbol AA change Variation ID SNP ID
1 ATL1 p.Glu66Gln VAR_065508 rs200314808
2 ATL1 p.Asn355Lys VAR_065510

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory, Type Id:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ATL1 ATL1, ASN355LYS single nucleotide variant Pathogenic
2 ATL1 ATL1, 1-BP DEL, 976G deletion Pathogenic

Expression for Neuropathy, Hereditary Sensory, Type Id

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

Pathways for Neuropathy, Hereditary Sensory, Type Id

GO Terms for Neuropathy, Hereditary Sensory, Type Id

Sources for Neuropathy, Hereditary Sensory, Type Id

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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