SNAX1
MCID: ATX023
MIFTS: 22

Ataxia, Sensory, 1, Autosomal Dominant (SNAX1)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Ataxia, Sensory, 1, Autosomal Dominant

MalaCards integrated aliases for Ataxia, Sensory, 1, Autosomal Dominant:

Name: Ataxia, Sensory, 1, Autosomal Dominant 58 76 13
Snax1 58 12 76
Adsa 58 12 76
Autosomal Dominant Sensory Ataxia 1 12 15
Ataxia, Sensory, Type 1, Autosomal Dominant 41
Ataxia, Sensory, Autosomal Dominant 74

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
adult onset (range 28 to 55 years)
two families of canadian origin have been reported (last curated may 2012)


HPO:

33
ataxia, sensory, 1, autosomal dominant:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111170
OMIM 58 608984
MeSH 45 D001259
MedGen 43 C1837015
UMLS 74 C1837015

Summaries for Ataxia, Sensory, 1, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 Ataxia, sensory, 1, autosomal dominant: A rare disease characterized by progressive ataxia caused by degeneration of the posterior columns of the spinal cord. Affected individuals have a reduced ability to feel pain, temperature and vibration, particularly in the hands and feet. Their most prominent feature is an ataxic gait resulting from a severe loss of proprioception. Thus, patients rely on visual cues for maintaining proper body posture, such that they are unable to remain upright if their eyes are closed (Romberg sign).

MalaCards based summary : Ataxia, Sensory, 1, Autosomal Dominant, is also known as snax1, and has symptoms including ataxia An important gene associated with Ataxia, Sensory, 1, Autosomal Dominant is RNF170 (Ring Finger Protein 170). Affiliated tissues include eye and spinal cord, and related phenotypes are babinski sign and areflexia

Disease Ontology : 12 A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has material basis in heterozygous mutations in the RNF170 gene on chromosome 8.

Description from OMIM: 608984

Related Diseases for Ataxia, Sensory, 1, Autosomal Dominant

Symptoms & Phenotypes for Ataxia, Sensory, 1, Autosomal Dominant

Human phenotypes related to Ataxia, Sensory, 1, Autosomal Dominant:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 babinski sign 33 HP:0003487
2 areflexia 33 HP:0001284
3 hyporeflexia 33 HP:0001265
4 sensory ataxia 33 HP:0010871
5 positive romberg sign 33 HP:0002403
6 distal sensory impairment of all modalities 33 HP:0003409
7 gait instability, worse in the dark 33 HP:0006962

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
areflexia
hyporeflexia
positive romberg sign
extensor plantar responses
gait instability, worse in the dark
more
Neurologic Peripheral Nervous System:
normal compound motor action potentials
normal sensory action potentials
normal sural nerve biopsy

Clinical features from OMIM:

608984

UMLS symptoms related to Ataxia, Sensory, 1, Autosomal Dominant:


ataxia

GenomeRNAi Phenotypes related to Ataxia, Sensory, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Transferrin accumulation in the perinuclear area GR00356-A-3 8.62 ALDH18A1 PLK2

Drugs & Therapeutics for Ataxia, Sensory, 1, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Ataxia, Sensory, 1, Autosomal Dominant

Genetic Tests for Ataxia, Sensory, 1, Autosomal Dominant

Anatomical Context for Ataxia, Sensory, 1, Autosomal Dominant

MalaCards organs/tissues related to Ataxia, Sensory, 1, Autosomal Dominant:

42
Eye, Spinal Cord

Publications for Ataxia, Sensory, 1, Autosomal Dominant

Variations for Ataxia, Sensory, 1, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Ataxia, Sensory, 1, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 RNF170 p.Arg199Cys VAR_068219 rs397514478

ClinVar genetic disease variations for Ataxia, Sensory, 1, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RNF170 NM_001160224.1(RNF170): c.490G> A (p.Gly164Arg) single nucleotide variant Uncertain significance rs797045006 GRCh38 Chromosome 8, 42850904: 42850904
2 RNF170 NM_001160224.1(RNF170): c.490G> A (p.Gly164Arg) single nucleotide variant Uncertain significance rs797045006 GRCh37 Chromosome 8, 42706047: 42706047
3 RNF170 NM_001160223.1(RNF170): c.595C> T (p.Arg199Cys) single nucleotide variant Pathogenic rs397514478 GRCh37 Chromosome 8, 42711484: 42711484
4 RNF170 NM_001160223.1(RNF170): c.595C> T (p.Arg199Cys) single nucleotide variant Pathogenic rs397514478 GRCh38 Chromosome 8, 42856341: 42856341
5 RNF170 NM_001160223.1(RNF170): c.640A> G (p.Ile214Val) single nucleotide variant Likely pathogenic rs587780441 GRCh37 Chromosome 8, 42711439: 42711439
6 RNF170 NM_001160223.1(RNF170): c.640A> G (p.Ile214Val) single nucleotide variant Likely pathogenic rs587780441 GRCh38 Chromosome 8, 42856296: 42856296
7 RNF170 NM_001160223.1(RNF170): c.374G> A (p.Ser125Asn) single nucleotide variant Likely benign rs144435181 GRCh38 Chromosome 8, 42865438: 42865438
8 RNF170 NM_001160223.1(RNF170): c.374G> A (p.Ser125Asn) single nucleotide variant Likely benign rs144435181 GRCh37 Chromosome 8, 42720581: 42720581

Expression for Ataxia, Sensory, 1, Autosomal Dominant

Search GEO for disease gene expression data for Ataxia, Sensory, 1, Autosomal Dominant.

Pathways for Ataxia, Sensory, 1, Autosomal Dominant

GO Terms for Ataxia, Sensory, 1, Autosomal Dominant

Sources for Ataxia, Sensory, 1, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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