MCID: NRP033
MIFTS: 31

Neuropathy, Hereditary Sensory and Autonomic, Type Ia

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Eye diseases, Skin diseases, Gastrointestinal diseases, Metabolic diseases, Ear diseases, Mental diseases

Aliases & Classifications for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

MalaCards integrated aliases for Neuropathy, Hereditary Sensory and Autonomic, Type Ia:

Name: Neuropathy, Hereditary Sensory and Autonomic, Type Ia 57 13
Hsan1a 57 12 24 25 75
Hereditary Sensory Neuropathy Type Ia 24 25 75
Hsan Ia 57 25 75
Hsn Ia 57 25 75
Hsn1a 57 24 25
Hsan1 57 75
Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a 57
Autosomal Dominant Hereditary Sensory Radicular Neuropathy, Type 1a 25
Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a 75
Neuropathy, Sensory and Autonomic, Hereditary, Type 1a 40
Hereditary Sensory and Autonomic Neuropathy, Type Ia 25
Hereditary Sensory and Autonomic Neuropathy Type 1a 12
Hereditary Sensory and Autonomic Neuropathy Type Ia 12
Neuropathy, Hereditary Sensory and Autonomic, 1a 75
Hereditary Sensory Autonomic Neuropathy, Type 1 73
Neuropathy, Hereditary Sensory, Type Ia; Hsn1a 57
Hereditary Sensoryautonomic Neuropathy Type Ia 24
Neuropathy, Hereditary Sensory, Type Ia 57
Hsn1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in the second to fourth decades of life
one patient with severe congenital onset has been reported
phenotypic overlap with charcot-marie-tooth disease 2b (cmt2b, )


HPO:

32
neuropathy, hereditary sensory and autonomic, type ia:
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

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.

MalaCards based summary : Neuropathy, Hereditary Sensory and Autonomic, Type Ia, also known as hsan1a, is related to hereditary sensory and autonomic neuropathy type 1 and neuropathy, hereditary sensory, type ie. An important gene associated with Neuropathy, Hereditary Sensory and Autonomic, Type Ia is SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1). The drug Serine has been mentioned in the context of this disorder. Affiliated tissues include skin and skeletal muscle, and related phenotypes are sensorineural hearing impairment and skeletal muscle atrophy

Disease Ontology : 12 A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has material basis in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.

OMIM : 57 The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN) in the absence of significant autonomic features, are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction. HSAN1 is a dominantly inherited sensorimotor axonal neuropathy with onset in the first or second decades of life. (162400)

UniProtKB/Swiss-Prot : 75 Neuropathy, hereditary sensory and autonomic, 1A: A form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1A is an autosomal dominant axonal form with onset in the second or third decades. Initial symptoms are loss of pain, touch, heat, and cold sensation over the feet, followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations.

GeneReviews: NBK1390

Related Diseases for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

Graphical network of the top 20 diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Ia:



Diseases related to Neuropathy, Hereditary Sensory and Autonomic, Type Ia

Symptoms & Phenotypes for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy

Head And Neck Ears:
deafness, sensorineural (reported in 1 family)

Neurologic Peripheral Nervous System:
distal sensory loss of all modalities (pain, temperature, touch, vibration)
taste is spared
sharp, 'lightning'-like pain
distal limb muscular atrophy due to peripheral neuropathy
distal limb muscular weakness due to peripheral neuropathy
more
Skeletal Hands:
autoamputation
osteomyelitis or necrosis, distal, due to sensory neuropathy

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


Clinical features from OMIM:

162400

Human phenotypes related to Neuropathy, Hereditary Sensory and Autonomic, Type Ia:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 skeletal muscle atrophy 32 HP:0003202
3 pes cavus 32 HP:0001761
4 areflexia 32 HP:0001284
5 hyporeflexia 32 HP:0001265
6 abnormality of the skin 32 HP:0000951
7 distal muscle weakness 32 HP:0002460
8 distal sensory loss of all modalities 32 HP:0006984
9 distal sensory impairment 32 HP:0002936
10 foot osteomyelitis 32 HP:0001886
11 decreased sensory nerve conduction velocity 32 HP:0003448
12 chronic axonal neuropathy 32 HP:0007267
13 decreased number of large peripheral myelinated nerve fibers 32 HP:0003387
14 autoamputation of foot 32 HP:0001868

Drugs & Therapeutics for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

Drugs for Neuropathy, Hereditary Sensory and Autonomic, Type Ia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Serine Approved, Nutraceutical Phase 1, Phase 2 56-45-1 5951

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 L-Serine Supplementation in Hereditary Sensory Neuropathy Type 1 Completed NCT01733407 Phase 1, Phase 2 L-serine;placebo

Search NIH Clinical Center for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

Genetic Tests for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

Anatomical Context for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

MalaCards organs/tissues related to Neuropathy, Hereditary Sensory and Autonomic, Type Ia:

41
Skin, Skeletal Muscle

Publications for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

Articles related to Neuropathy, Hereditary Sensory and Autonomic, Type Ia:

# Title Authors Year
1
Hereditary Sensory Neuropathy Type IA ( 20301564 )
1993

Variations for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

UniProtKB/Swiss-Prot genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Ia:

75
# Symbol AA change Variation ID SNP ID
1 SPTLC1 p.Cys133Trp VAR_011392 rs119482082
2 SPTLC1 p.Cys133Tyr VAR_011393 rs119482081
3 SPTLC1 p.Val144Asp VAR_011394 rs119482083
4 SPTLC1 p.Ser331Phe VAR_066245 rs267607087
5 SPTLC1 p.Ala352Val VAR_066246 rs267607088

ClinVar genetic disease variations for Neuropathy, Hereditary Sensory and Autonomic, Type Ia:

6
(show top 50) (show all 110)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTLC1 NM_006415.3(SPTLC1): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs119482081 GRCh37 Chromosome 9, 94842327: 94842327
2 SPTLC1 NM_006415.3(SPTLC1): c.398G> A (p.Cys133Tyr) single nucleotide variant Pathogenic rs119482081 GRCh38 Chromosome 9, 92080045: 92080045
3 SPTLC1 NM_006415.3(SPTLC1): c.431T> A (p.Val144Asp) single nucleotide variant Likely pathogenic rs119482083 GRCh37 Chromosome 9, 94830377: 94830377
4 SPTLC1 NM_006415.3(SPTLC1): c.431T> A (p.Val144Asp) single nucleotide variant Likely pathogenic rs119482083 GRCh38 Chromosome 9, 92068095: 92068095
5 SPTLC1 NM_006415.3(SPTLC1): c.399T> G (p.Cys133Trp) single nucleotide variant Pathogenic rs119482082 GRCh37 Chromosome 9, 94842326: 94842326
6 SPTLC1 NM_006415.3(SPTLC1): c.399T> G (p.Cys133Trp) single nucleotide variant Pathogenic rs119482082 GRCh38 Chromosome 9, 92080044: 92080044
7 SPTLC1 NM_006415.3(SPTLC1): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs267607088 GRCh37 Chromosome 9, 94809480: 94809480
8 SPTLC1 NM_006415.3(SPTLC1): c.1055C> T (p.Ala352Val) single nucleotide variant Pathogenic rs267607088 GRCh38 Chromosome 9, 92047198: 92047198
9 SPTLC1 NM_006415.3(SPTLC1): c.1072G> C (p.Glu358Gln) single nucleotide variant Likely pathogenic rs797045071 GRCh37 Chromosome 9, 94809463: 94809463
10 SPTLC1 NM_006415.3(SPTLC1): c.1072G> C (p.Glu358Gln) single nucleotide variant Likely pathogenic rs797045071 GRCh38 Chromosome 9, 92047181: 92047181
11 SPTLC1 NM_006415.3(SPTLC1): c.208G> T (p.Val70Phe) single nucleotide variant Uncertain significance rs764460003 GRCh37 Chromosome 9, 94871074: 94871074
12 SPTLC1 NM_006415.3(SPTLC1): c.208G> T (p.Val70Phe) single nucleotide variant Uncertain significance rs764460003 GRCh38 Chromosome 9, 92108792: 92108792
13 SPTLC1 NM_006415.3(SPTLC1): c.1411G> A (p.Val471Ile) single nucleotide variant Benign/Likely benign rs141292904 GRCh37 Chromosome 9, 94794758: 94794758
14 SPTLC1 NM_006415.3(SPTLC1): c.1411G> A (p.Val471Ile) single nucleotide variant Benign/Likely benign rs141292904 GRCh38 Chromosome 9, 92032476: 92032476
15 SPTLC1 NM_006415.3(SPTLC1): c.*631G> C single nucleotide variant Uncertain significance rs1057515686 GRCh37 Chromosome 9, 94794116: 94794116
16 SPTLC1 NM_006415.3(SPTLC1): c.*631G> C single nucleotide variant Uncertain significance rs1057515686 GRCh38 Chromosome 9, 92031834: 92031834
17 SPTLC1 NM_006415.3(SPTLC1): c.*605T> C single nucleotide variant Uncertain significance rs1057515687 GRCh37 Chromosome 9, 94794142: 94794142
18 SPTLC1 NM_006415.3(SPTLC1): c.*605T> C single nucleotide variant Uncertain significance rs1057515687 GRCh38 Chromosome 9, 92031860: 92031860
19 SPTLC1 NM_006415.3(SPTLC1): c.*483A> G single nucleotide variant Likely benign rs541284488 GRCh37 Chromosome 9, 94794264: 94794264
20 SPTLC1 NM_006415.3(SPTLC1): c.*483A> G single nucleotide variant Likely benign rs541284488 GRCh38 Chromosome 9, 92031982: 92031982
21 SPTLC1 NM_006415.3(SPTLC1): c.*190A> C single nucleotide variant Likely benign rs552433019 GRCh37 Chromosome 9, 94794557: 94794557
22 SPTLC1 NM_006415.3(SPTLC1): c.*190A> C single nucleotide variant Likely benign rs552433019 GRCh38 Chromosome 9, 92032275: 92032275
23 SPTLC1 NM_006415.3(SPTLC1): c.1136+12A> G single nucleotide variant Benign rs76562923 GRCh37 Chromosome 9, 94808269: 94808269
24 SPTLC1 NM_006415.3(SPTLC1): c.1136+12A> G single nucleotide variant Benign rs76562923 GRCh38 Chromosome 9, 92045987: 92045987
25 SPTLC1 NM_006415.3(SPTLC1): c.387C> T (p.Gly129=) single nucleotide variant Benign/Likely benign rs141265918 GRCh37 Chromosome 9, 94842338: 94842338
26 SPTLC1 NM_006415.3(SPTLC1): c.387C> T (p.Gly129=) single nucleotide variant Benign/Likely benign rs141265918 GRCh38 Chromosome 9, 92080056: 92080056
27 SPTLC1 NM_006415.3(SPTLC1): c.*1009G> T single nucleotide variant Likely benign rs559735773 GRCh37 Chromosome 9, 94793738: 94793738
28 SPTLC1 NM_006415.3(SPTLC1): c.*1009G> T single nucleotide variant Likely benign rs559735773 GRCh38 Chromosome 9, 92031456: 92031456
29 SPTLC1 NM_006415.3(SPTLC1): c.*750C> T single nucleotide variant Uncertain significance rs768395365 GRCh37 Chromosome 9, 94793997: 94793997
30 SPTLC1 NM_006415.3(SPTLC1): c.*750C> T single nucleotide variant Uncertain significance rs768395365 GRCh38 Chromosome 9, 92031715: 92031715
31 SPTLC1 NM_006415.3(SPTLC1): c.*451G> A single nucleotide variant Uncertain significance rs868416931 GRCh37 Chromosome 9, 94794296: 94794296
32 SPTLC1 NM_006415.3(SPTLC1): c.*451G> A single nucleotide variant Uncertain significance rs868416931 GRCh38 Chromosome 9, 92032014: 92032014
33 SPTLC1 NM_006415.3(SPTLC1): c.*445A> G single nucleotide variant Likely benign rs7944 GRCh38 Chromosome 9, 92032020: 92032020
34 SPTLC1 NM_006415.3(SPTLC1): c.*445A> G single nucleotide variant Likely benign rs7944 GRCh37 Chromosome 9, 94794302: 94794302
35 SPTLC1 NM_006415.3(SPTLC1): c.*200G> T single nucleotide variant Uncertain significance rs1057515689 GRCh37 Chromosome 9, 94794547: 94794547
36 SPTLC1 NM_006415.3(SPTLC1): c.*200G> T single nucleotide variant Uncertain significance rs1057515689 GRCh38 Chromosome 9, 92032265: 92032265
37 SPTLC1 NM_006415.3(SPTLC1): c.*124A> G single nucleotide variant Likely benign rs189582528 GRCh37 Chromosome 9, 94794623: 94794623
38 SPTLC1 NM_006415.3(SPTLC1): c.*124A> G single nucleotide variant Likely benign rs189582528 GRCh38 Chromosome 9, 92032341: 92032341
39 SPTLC1 NM_006415.3(SPTLC1): c.1137-15_1137-14dupGT duplication Likely benign rs147137401 GRCh37 Chromosome 9, 94800661: 94800662
40 SPTLC1 NM_006415.3(SPTLC1): c.1137-15_1137-14dupGT duplication Likely benign rs147137401 GRCh38 Chromosome 9, 92038379: 92038380
41 SPTLC1 NM_006415.3(SPTLC1): c.58-9C> T single nucleotide variant Uncertain significance rs769188151 GRCh37 Chromosome 9, 94874853: 94874853
42 SPTLC1 NM_006415.3(SPTLC1): c.58-9C> T single nucleotide variant Uncertain significance rs769188151 GRCh38 Chromosome 9, 92112571: 92112571
43 SPTLC1 NM_006415.3(SPTLC1): c.-27C> T single nucleotide variant Uncertain significance rs558203491 GRCh37 Chromosome 9, 94877679: 94877679
44 SPTLC1 NM_006415.3(SPTLC1): c.-27C> T single nucleotide variant Uncertain significance rs558203491 GRCh38 Chromosome 9, 92115397: 92115397
45 SPTLC1 NM_006415.3(SPTLC1): c.*1302T> G single nucleotide variant Benign rs7035964 GRCh37 Chromosome 9, 94793445: 94793445
46 SPTLC1 NM_006415.3(SPTLC1): c.*1302T> G single nucleotide variant Benign rs7035964 GRCh38 Chromosome 9, 92031163: 92031163
47 SPTLC1 NM_006415.3(SPTLC1): c.*1226G> T single nucleotide variant Likely benign rs562277733 GRCh37 Chromosome 9, 94793521: 94793521
48 SPTLC1 NM_006415.3(SPTLC1): c.*1226G> T single nucleotide variant Likely benign rs562277733 GRCh38 Chromosome 9, 92031239: 92031239
49 SPTLC1 NM_006415.3(SPTLC1): c.*1154T> C single nucleotide variant Likely benign rs142740904 GRCh37 Chromosome 9, 94793593: 94793593
50 SPTLC1 NM_006415.3(SPTLC1): c.*1154T> C single nucleotide variant Likely benign rs142740904 GRCh38 Chromosome 9, 92031311: 92031311

Expression for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

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Pathways for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

GO Terms for Neuropathy, Hereditary Sensory and Autonomic, Type Ia

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