SNAX1
MCID: ATX023
MIFTS: 37

Ataxia, Sensory, 1, Autosomal Dominant (SNAX1)

Categories: Eye diseases, 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 72 13 6
Snax1 57 12 72
Adsa 57 12 72
Autosomal Dominant Sensory Ataxia 1 12 15
Ataxia, Sensory, Type 1, Autosomal Dominant 39
Ataxia, Sensory, Autosomal Dominant 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
ataxia, sensory, 1, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111170
OMIM® 57 608984
MeSH 44 D001259
MedGen 41 C1837015
UMLS 70 C1837015

Summaries for Ataxia, Sensory, 1, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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, also known as snax1, is related to renal artery obstruction and spastic paraplegia 62, autosomal recessive, and has symptoms including ataxia An important gene associated with Ataxia, Sensory, 1, Autosomal Dominant is RNF170 (Ring Finger Protein 170), and among its related pathways/superpathways are Calcium signaling pathway and Surfactant metabolism. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related phenotypes are areflexia and hyporeflexia

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.

More information from OMIM: 608984

Related Diseases for Ataxia, Sensory, 1, Autosomal Dominant

Diseases related to Ataxia, Sensory, 1, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 renal artery obstruction 10.1 ADORA3 ADORA2B
2 spastic paraplegia 62, autosomal recessive 10.0 ZNF646 RNF170
3 pseudobulbar palsy 9.9 ZNF646 RNF170
4 listeriosis 9.9
5 substance abuse 9.9
6 fatty liver disease 9.9
7 myocardial stunning 9.9 ADORA3 ADORA2B ADORA1
8 gillespie syndrome 9.9 ZNF646 RNF170
9 endocardium disease 9.7 SCIN PPP3CA
10 adenosine deaminase deficiency 9.7 ADORA3 ADORA2B ADORA2A ADORA1
11 commensal bacterial infectious disease 9.7 SELENOO SCIN PPP3CA

Graphical network of the top 20 diseases related to Ataxia, Sensory, 1, Autosomal Dominant:



Diseases related to Ataxia, Sensory, 1, Autosomal Dominant

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 hyporeflexia 31 HP:0001265
3 positive romberg sign 31 HP:0002403
4 babinski sign 31 HP:0003487
5 sensory ataxia 31 HP:0010871
6 distal sensory impairment of all modalities 31 HP:0003409
7 gait instability, worse in the dark 31 HP:0006962

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
areflexia
hyporeflexia
positive romberg sign
gait instability, worse in the dark
extensor plantar responses
more
Neurologic Peripheral Nervous System:
normal compound motor action potentials
normal sensory action potentials
normal sural nerve biopsy

Clinical features from OMIM®:

608984 (Updated 05-Apr-2021)

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-1 9.02 ADORA1 ADORA2B ADORA3
2 Decreased substrate adherent cell growth GR00193-A-3 9.02 ADORA1 ADORA2B

MGI Mouse Phenotypes related to Ataxia, Sensory, 1, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 ADK ADORA1 ADORA2A ADORA2B ADORA3 NT5E

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

Drugs for Ataxia, Sensory, 1, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies
2 Immunoglobulins
3 Insulin, Globin Zinc
4 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Abu Dhabi Sleep Apnea (ADSA) Study Unknown status NCT02403141

Search 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:

40
Spinal Cord

Publications for Ataxia, Sensory, 1, Autosomal Dominant

Articles related to Ataxia, Sensory, 1, Autosomal Dominant:

# Title Authors PMID Year
1
A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada. 6 57 61
17190954 2006
2
A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. 6 57
21115467 2011
3
A Point Mutation in the Ubiquitin Ligase RNF170 That Causes Autosomal Dominant Sensory Ataxia Destabilizes the Protein and Impairs Inositol 1,4,5-Trisphosphate Receptor-mediated Ca2+ Signaling. 6
25882839 2015
4
Autosomal dominant sensory ataxia: a neuroaxonal dystrophy. 57
18347805 2008
5
A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1. 57
15286160 2004
6
Functional consequences of compartmentalization of synaptic input. 61
7965058 1994

Variations for Ataxia, Sensory, 1, Autosomal Dominant

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF170 NM_030954.4(RNF170):c.595C>T (p.Arg199Cys) SNV Pathogenic 31590 rs397514478 GRCh37: 8:42711484-42711484
GRCh38: 8:42856341-42856341
2 RNF170 NM_030954.4(RNF170):c.640A>G (p.Ile214Val) SNV Likely pathogenic 130158 rs587780441 GRCh37: 8:42711439-42711439
GRCh38: 8:42856296-42856296
3 RNF170 NM_030954.4(RNF170):c.304T>C (p.Cys102Arg) SNV Uncertain significance 638435 rs1183403793 GRCh37: 8:42725165-42725165
GRCh38: 8:42870022-42870022
4 RNF170 NM_030954.4(RNF170):c.346C>T (p.Arg116Ter) SNV Uncertain significance 930981 GRCh37: 8:42720609-42720609
GRCh38: 8:42865466-42865466
5 RNF170 NM_001160224.2(RNF170):c.520C>T (p.His174Tyr) SNV Uncertain significance 1027753 GRCh37: 8:42706017-42706017
GRCh38: 8:42850874-42850874
6 RNF170 NM_001160224.2(RNF170):c.490G>A (p.Gly164Arg) SNV Uncertain significance 208491 rs797045006 GRCh37: 8:42706047-42706047
GRCh38: 8:42850904-42850904
7 RNF170 NM_030954.4(RNF170):c.374G>A (p.Ser125Asn) SNV Likely benign 522306 rs144435181 GRCh37: 8:42720581-42720581
GRCh38: 8:42865438-42865438

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

72
# Symbol AA change Variation ID SNP ID
1 RNF170 p.Arg199Cys VAR_068219 rs397514478

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

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

# Super pathways Score Top Affiliating Genes
1 11.71 PPP3CA ADORA2B ADORA2A
2
Show member pathways
10.59 ADORA2B ADORA2A
3
Show member pathways
10.56 ADORA3 ADORA2B ADORA2A ADORA1

GO Terms for Ataxia, Sensory, 1, Autosomal Dominant

Cellular components related to Ataxia, Sensory, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of postsynaptic membrane GO:0099055 9.26 ADORA2A ADORA1
2 presynaptic active zone GO:0048786 9.16 ADORA2A ADORA1
3 asymmetric synapse GO:0032279 8.96 ADORA2A ADORA1
4 axolemma GO:0030673 8.62 ADORA2A ADORA1

Biological processes related to Ataxia, Sensory, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.46 SCIN ADORA3 ADORA2A ADORA1
2 cellular protein metabolic process GO:0044267 9.43 NUCB1 ADORA2B ADORA2A
3 activation of adenylate cyclase activity GO:0007190 9.32 ADORA3 ADORA2B
4 excitatory postsynaptic potential GO:0060079 9.13 PPP3CA ADORA2A ADORA1
5 adenosine receptor signaling pathway GO:0001973 8.92 ADORA3 ADORA2B ADORA2A ADORA1

Molecular functions related to Ataxia, Sensory, 1, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.61 ZNF646 SELENOO SCIN RNF170 PPP3CA NUCB1
2 G protein-coupled adenosine receptor activity GO:0001609 8.92 ADORA3 ADORA2B ADORA2A ADORA1

Sources for Ataxia, Sensory, 1, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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