SCAN3
MCID: SPN432
MIFTS: 18

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 (SCAN3)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3:

Name: Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 58 6
Scan3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first decade


Classifications:



External Ids:

OMIM 58 618387

Summaries for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

OMIM : 58 Spinocerebellar ataxia with axonal neuropathy-3 (SCAN3) is an autosomal recessive neuromuscular disorder characterized by onset in the first decade of slowly progressive distal muscle weakness and atrophy and distal sensory impairment due to an axonal peripheral neuropathy. Affected individuals have gait disturbances and sometimes manual dexterity difficulties, as well as cerebellar ataxia associated with cerebellar atrophy on brain imaging. Additional features usually include dysarthria, hyporeflexia, and increased serum creatine kinase. Some patients may have impaired intellectual development (summary by Higuchi et al., 2018). For a discussion of genetic heterogeneity of SCAN, see SCAN1 (607250). (618387)

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3, is also known as scan3. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 is COA7 (Cytochrome C Oxidase Assembly Factor 7 (Putative)). Affiliated tissues include brain, spinal cord and eye.

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
tremor
dysmetria
cerebellar atrophy
cerebellar ataxia
more
Neurologic Peripheral Nervous System:
hyporeflexia
steppage gait
distal sensory impairment
foot drop
axonal peripheral neuropathy
more
Laboratory Abnormalities:
increased serum and csf lactate
increased serum creatine kinase, mild
variably decreased activities of mitochondrial complexes i and iv

Skeletal Feet:
pes cavus
hammertoes

Muscle Soft Tissue:
distal muscle weakness
ragged red fibers seen on muscle biopsy
distal muscle atrophy
cox-negative fibers

Clinical features from OMIM:

618387

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3:

42
Brain, Spinal Cord, Eye

Publications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Articles related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3:

# Title Authors Year
1
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7. ( 30885959 )
2019
2
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. ( 29718187 )
2018
3
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. ( 27683825 )
2016

Variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COA7 NM_023077.2(COA7): c.410A> G (p.Tyr137Cys) single nucleotide variant Pathogenic rs961876891 GRCh37 Chromosome 1, 53153678: 53153678
2 COA7 NM_023077.2(COA7): c.410A> G (p.Tyr137Cys) single nucleotide variant Pathogenic rs961876891 GRCh38 Chromosome 1, 52688006: 52688006
3 COA7 NM_023077.2(COA7): c.247+1G> T single nucleotide variant Pathogenic rs1197945739 GRCh37 Chromosome 1, 53158398: 53158398
4 COA7 NM_023077.2(COA7): c.247+1G> T single nucleotide variant Pathogenic rs1197945739 GRCh38 Chromosome 1, 52692726: 52692726
5 COA7 NM_023077.3(COA7): c.446G> T (p.Ser149Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 52687970: 52687970
6 COA7 NM_023077.3(COA7): c.446G> T (p.Ser149Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 53153642: 53153642
7 COA7 NM_023077.3(COA7): c.17A> G (p.Asp6Gly) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 52698310: 52698310
8 COA7 NM_023077.3(COA7): c.17A> G (p.Asp6Gly) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 53163982: 53163982
9 COA7 NM_023077.3(COA7): c.431delG (p.Gly144Valfs) deletion Pathogenic GRCh38 Chromosome 1, 52687985: 52687985
10 COA7 NM_023077.3(COA7): c.431delG (p.Gly144Valfs) deletion Pathogenic GRCh37 Chromosome 1, 53153657: 53153657

Expression for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Sources for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

3 CDC
7 CNVD
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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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
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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