NDAXOA
MCID: NRD120
MIFTS: 14

Neurodegeneration with Ataxia and Late-Onset Optic Atrophy (NDAXOA)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

MalaCards integrated aliases for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy:

Name: Neurodegeneration with Ataxia and Late-Onset Optic Atrophy 57 6
Ndaxoa 57

Characteristics:

OMIM®:

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

Miscellaneous:
slowly progressive
variable manifestations
onset usually in mid-adulthood
mild childhood signs seen on retrospective review of patients


Classifications:



External Ids:

OMIM® 57 619259

Summaries for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

OMIM® : 57 Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA) is an autosomal dominant disorder with somewhat variable manifestations. Most affected individuals present in mid-adulthood with slowly progressive cerebellar and gait ataxia, optic atrophy, and myopathy or myalgia. Some patients may have a childhood history of neurologic features, including limited extraocular movements. Additional features can include cardiomyopathy, psychiatric disturbances, and peripheral sensory impairment (summary by Taylor et al., 1996 and Courage et al., 2017). (619259) (Updated 20-May-2021)

MalaCards based summary : Neurodegeneration with Ataxia and Late-Onset Optic Atrophy, is also known as ndaxoa. An important gene associated with Neurodegeneration with Ataxia and Late-Onset Optic Atrophy is SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A). Affiliated tissues include eye.

Related Diseases for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

Symptoms & Phenotypes for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
optic atrophy
limited extraocular movements
visual disturbances

Neurologic Central Nervous System:
vertigo
dizziness
headaches
cerebellar atrophy (in some patients)
cerebellar gait ataxia

Laboratory Abnormalities:
increased lactate
isolated mitochondrial complex ii deficiency

Neurologic Behavioral Psychiatric Manifestations:
psychiatric manifestations (in some patients)

Muscle Soft Tissue:
muscle weakness
myalgia
muscle cramps
mitochondrial complex ii deficiency

Neurologic Peripheral Nervous System:
sensory disturbances

Cardiovascular Heart:
hypertrophic cardiomyopathy (one family)

Clinical features from OMIM®:

619259 (Updated 20-May-2021)

Drugs & Therapeutics for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

Search Clinical Trials , NIH Clinical Center for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

Genetic Tests for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

Anatomical Context for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

MalaCards organs/tissues related to Neurodegeneration with Ataxia and Late-Onset Optic Atrophy:

40
Eye

Publications for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

Articles related to Neurodegeneration with Ataxia and Late-Onset Optic Atrophy:

# Title Authors PMID Year
1
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. 6 57
27683074 2017
2
Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. 57 6
10976639 2000
3
Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia. 6 57
8967754 1996

Variations for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

ClinVar genetic disease variations for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SDHA NM_004168.4(SDHA):c.1351C>T (p.Arg451Cys) SNV Pathogenic 449389 rs1553999752 GRCh37: 5:236633-236633
GRCh38: 5:236518-236518

Expression for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

Search GEO for disease gene expression data for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy.

Pathways for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

GO Terms for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

Sources for Neurodegeneration with Ataxia and Late-Onset Optic Atrophy

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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