SCAN3
MCID: SPN432
MIFTS: 25

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

Categories: Eye diseases, Genetic diseases, Muscle 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 57 72 29 6 17
Scan3 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in first decade


HPO:

31
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:



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

OMIM® : 57 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) (Updated 20-May-2021)

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). Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are leukoencephalopathy and dysarthria

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN3 is an autosomal recessive 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.

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

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 leukoencephalopathy 31 very rare (1%) HP:0002352
2 dysarthria 31 HP:0001260
3 tremor 31 HP:0001337
4 elevated serum creatine kinase 31 HP:0003236
5 dysmetria 31 HP:0001310
6 pes cavus 31 HP:0001761
7 hyporeflexia 31 HP:0001265
8 gait ataxia 31 HP:0002066
9 steppage gait 31 HP:0003376
10 cerebellar atrophy 31 HP:0001272
11 hammertoe 31 HP:0001765
12 distal muscle weakness 31 HP:0002460
13 distal sensory impairment 31 HP:0002936
14 distal amyotrophy 31 HP:0003693
15 peripheral axonal neuropathy 31 HP:0003477
16 foot dorsiflexor weakness 31 HP:0009027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
tremor
dysmetria
cerebellar atrophy
cerebellar ataxia
more
Neurologic Peripheral Nervous System:
hyporeflexia
steppage gait
distal sensory impairment
foot drop
loss of myelinated fibers seen on sural nerve biopsy
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 (Updated 20-May-2021)

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...

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

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3 29 COA7

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

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

40
Eye, Spinal Cord, Cerebellum

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

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

# Title Authors PMID Year
1
Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. 57 6
29718187 2018
2
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. 57 6
27683825 2016
3
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7. 6
30885959 2019
4
Baseline vestibular and auditory findings in a trial of post-concussive syndrome 61
28771392 2016
5
Image-enhanced bronchoscopic evaluation of bronchial mucosal microvasculature in COPD. 61
27729785 2016

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COA7 NM_023077.3(COA7):c.410A>G (p.Tyr137Cys) SNV Pathogenic 438350 rs961876891 GRCh37: 1:53153678-53153678
GRCh38: 1:52688006-52688006
2 COA7 NM_023077.3(COA7):c.247+1G>T SNV Pathogenic 438351 rs1197945739 GRCh37: 1:53158398-53158398
GRCh38: 1:52692726-52692726
3 COA7 NM_023077.3(COA7):c.446G>T (p.Ser149Ile) SNV Pathogenic 625459 rs1558102448 GRCh37: 1:53153642-53153642
GRCh38: 1:52687970-52687970
4 COA7 NM_023077.3(COA7):c.17A>G (p.Asp6Gly) SNV Pathogenic 625460 rs780572767 GRCh37: 1:53163982-53163982
GRCh38: 1:52698310-52698310
5 COA7 NM_023077.3(COA7):c.431del (p.Gly144fs) Deletion Pathogenic 625461 rs1558102464 GRCh37: 1:53153657-53153657
GRCh38: 1:52687985-52687985
6 COA7 NM_023077.3(COA7):c.113A>G (p.Tyr38Cys) SNV Uncertain significance 1030824 GRCh37: 1:53158533-53158533
GRCh38: 1:52692861-52692861

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 3:

72
# Symbol AA change Variation ID SNP ID
1 COA7 p.Asp6Gly VAR_082218 rs780572767
2 COA7 p.Tyr137Cys VAR_082220 rs961876891

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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