MCID: ATX023
MIFTS: 18

Ataxia, Sensory, 1, Autosomal Dominant

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 57 75 13
Snax1 57 12 75
Adsa 57 12 75
Ataxia, Sensory, Type 1, Autosomal Dominant 40
Autosomal Dominant Sensory Ataxia 1 12
Ataxia, Sensory, Autosomal Dominant 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
ataxia, sensory, 1, autosomal dominant:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608984
Disease Ontology 12 DOID:0111170
MedGen 42 C1837015
MeSH 44 D001259
UMLS 73 C1837015

Summaries for Ataxia, Sensory, 1, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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 spinal cord and eye, and related phenotypes are hyporeflexia 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 areflexia 32 HP:0001284
3 positive romberg sign 32 HP:0002403
4 distal sensory impairment of all modalities 32 HP:0003409
5 babinski sign 32 HP:0003487
6 gait instability, worse in the dark 32 HP:0006962
7 sensory ataxia 32 HP:0010871

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


ataxia

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:

41
Spinal Cord, Eye

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:

75
# 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_001160223.1(RNF170): c.595C> T (p.Arg199Cys) single nucleotide variant Pathogenic rs397514478 GRCh37 Chromosome 8, 42711484: 42711484
2 RNF170 NM_001160223.1(RNF170): c.595C> T (p.Arg199Cys) single nucleotide variant Pathogenic rs397514478 GRCh38 Chromosome 8, 42856341: 42856341
3 RNF170 NM_001160223.1(RNF170): c.640A> G (p.Ile214Val) single nucleotide variant Likely pathogenic rs587780441 GRCh37 Chromosome 8, 42711439: 42711439
4 RNF170 NM_001160223.1(RNF170): c.640A> G (p.Ile214Val) single nucleotide variant Likely pathogenic rs587780441 GRCh38 Chromosome 8, 42856296: 42856296
5 RNF170 NM_001160224.1(RNF170): c.490G> A (p.Gly164Arg) single nucleotide variant Uncertain significance rs797045006 GRCh38 Chromosome 8, 42850904: 42850904
6 RNF170 NM_001160224.1(RNF170): c.490G> A (p.Gly164Arg) single nucleotide variant Uncertain significance rs797045006 GRCh37 Chromosome 8, 42706047: 42706047
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 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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