MCID: SPT021
MIFTS: 16

Sptlc1-Related Hereditary Sensory Neuropathy

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

Aliases & Classifications for Sptlc1-Related Hereditary Sensory Neuropathy

MalaCards integrated aliases for Sptlc1-Related Hereditary Sensory Neuropathy:

Name: Sptlc1-Related Hereditary Sensory Neuropathy 24
Hereditary Sensory Neuropathy Type Ia 24 25
Hsan1a 24 25
Hsn1a 24 25
Autosomal Dominant Hereditary Sensory Radicular Neuropathy, Type 1a 25
Hereditary Sensory and Autonomic Neuropathy, Type Ia 25
Hereditary Sensory Autonomic Neuropathy Type Ia 24
Hsan Ia 25
Hsn Ia 25

Characteristics:

GeneReviews:

24
Penetrance Variable penetrance has been observed [houlden et al 2006].

Classifications:



Summaries for Sptlc1-Related Hereditary Sensory Neuropathy

Genetics Home Reference : 25 Hereditary sensory neuropathy type IA is a condition characterized by nerve abnormalities in the legs and feet (peripheral neuropathy). Many people with this condition experience prickling or tingling sensations (paresthesias), numbness, and a reduced ability to feel pain and sense hot and cold. Some affected individuals do not lose sensation, but instead feel shooting pains in their legs and feet. As the disorder progresses, the sensory abnormalities can affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may also experience muscle wasting and weakness as they get older. Weakness in the ankle muscles can make walking difficult. As the condition progresses, some people with hereditary sensory neuropathy type IA require wheelchair assistance. Individuals with hereditary sensory neuropathy type IA typically get open sores (ulcers) on their feet or hands or infections of the soft tissue of the fingertips (whitlows) that are slow to heal. Because affected individuals cannot feel the pain of these sores, they may not seek immediate treatment. Without treatment, the ulcers can become infected and may require amputation of the surrounding area or limb. Some people with hereditary sensory neuropathy type IA develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss typically develops in middle to late adulthood. The signs and symptoms of hereditary sensory neuropathy type IA can begin anytime between adolescence and late adulthood. While the features of this condition tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated.

MalaCards based summary : Sptlc1-Related Hereditary Sensory Neuropathy, also known as hereditary sensory neuropathy type ia, is related to neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux and neuropathy, hereditary sensory and autonomic, type ic. An important gene associated with Sptlc1-Related Hereditary Sensory Neuropathy is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1). Affiliated tissues include bone.

GeneReviews: NBK1390

Related Diseases for Sptlc1-Related Hereditary Sensory Neuropathy

Graphical network of the top 20 diseases related to Sptlc1-Related Hereditary Sensory Neuropathy:



Diseases related to Sptlc1-Related Hereditary Sensory Neuropathy

Symptoms & Phenotypes for Sptlc1-Related Hereditary Sensory Neuropathy

Drugs & Therapeutics for Sptlc1-Related Hereditary Sensory Neuropathy

Search Clinical Trials , NIH Clinical Center for Sptlc1-Related Hereditary Sensory Neuropathy

Genetic Tests for Sptlc1-Related Hereditary Sensory Neuropathy

Anatomical Context for Sptlc1-Related Hereditary Sensory Neuropathy

MalaCards organs/tissues related to Sptlc1-Related Hereditary Sensory Neuropathy:

40
Bone

Publications for Sptlc1-Related Hereditary Sensory Neuropathy

Articles related to Sptlc1-Related Hereditary Sensory Neuropathy:

(show all 14)
# Title Authors PMID Year
1
Timing, rates and spectra of human germline mutation. 24
26656846 2016
2
Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation. 24
24247255 2014
3
Hereditary sensory and autonomic neuropathies. 24
23931820 2013
4
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. 24
22045570 2011
5
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. 24
20097765 2010
6
Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. 24
19923297 2009
7
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. 24
19132419 2009
8
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). 24
16364956 2006
9
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. 24
15037712 2004
10
SPTLC1 is mutated in hereditary sensory neuropathy, type 1. 24
11242106 2001
11
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. 24
11242114 2001
12
Hereditary sensory neuropathies. 24
8293177 1993
13
SENSORY RADICULAR NEUROPATHY ASSOCIATED WITH MUSCLE WASTING IN TWO CASES. 24
14152213 1964
14
SPTLC1-Related Hereditary Sensory Neuropathy 61
20301564 2002

Variations for Sptlc1-Related Hereditary Sensory Neuropathy

Expression for Sptlc1-Related Hereditary Sensory Neuropathy

Search GEO for disease gene expression data for Sptlc1-Related Hereditary Sensory Neuropathy.

Pathways for Sptlc1-Related Hereditary Sensory Neuropathy

GO Terms for Sptlc1-Related Hereditary Sensory Neuropathy

Sources for Sptlc1-Related Hereditary Sensory Neuropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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