OPA13
MCID: OPT079
MIFTS: 18

Optic Atrophy 13 with Retinal and Foveal Abnormalities (OPA13)

Categories: Eye diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Optic Atrophy 13 with Retinal and Foveal Abnormalities

MalaCards integrated aliases for Optic Atrophy 13 with Retinal and Foveal Abnormalities:

Name: Optic Atrophy 13 with Retinal and Foveal Abnormalities 57
Optic Atrophy with Negative Electroretinograms, Formerly 57
Opa13 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
phenotypic variability
progressive disorder
later onset has been reported
de novo mutation (in some patients)
onset usually in first decade

Inheritance:
autosomal dominant


HPO:

31
optic atrophy 13 with retinal and foveal abnormalities:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 165510
OMIM Phenotypic Series 57 PS165500
MedGen 41 C1833799
SNOMED-CT via HPO 68 263681008 274524001 76976005

Summaries for Optic Atrophy 13 with Retinal and Foveal Abnormalities

OMIM® : 57 Optic atrophy-13 with retinal and foveal abnormalities (OPA13) is an autosomal dominant disorder characterized by decreased visual acuity due to bilateral optic atrophy. Difficulties with color vision may also be apparent. The age at onset varies widely: most patients have onset in the first decade, but later onset even into adulthood has been reported. In addition to optic atrophy, most patients develop retinal pigmentary involvement and abnormal appearance of the fovea. Some patients may develop additional systemic features, including sensorineural deafness and progressive nephropathy resulting in renal failure. The disorder is associated with variable signs of mitochondrial dysfunction, including altered morphology, mtDNA depletion, and defective mtDNA replication (summary by Del Dotto et al., 2020, Piro-Megy et al., 2020). (165510) (Updated 05-Mar-2021)

MalaCards based summary : Optic Atrophy 13 with Retinal and Foveal Abnormalities, is also known as optic atrophy with negative electroretinograms, formerly. An important gene associated with Optic Atrophy 13 with Retinal and Foveal Abnormalities is SSBP1 (Single Stranded DNA Binding Protein 1). Related phenotypes are optic atrophy and abnormal electroretinogram

Related Diseases for Optic Atrophy 13 with Retinal and Foveal Abnormalities

Symptoms & Phenotypes for Optic Atrophy 13 with Retinal and Foveal Abnormalities

Human phenotypes related to Optic Atrophy 13 with Retinal and Foveal Abnormalities:

31
# Description HPO Frequency HPO Source Accession
1 optic atrophy 31 HP:0000648
2 abnormal electroretinogram 31 HP:0000512

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus
visual impairment
optic atrophy
strabismus
macular dystrophy
more
Genitourinary Kidneys:
renal failure (in some patients)
nephropathy, progressive (in some patients)

Muscle Soft Tissue:
myopathy, mitochondrial (in some patients)
muscle biopsy shows cox-negative fibers
mtdna depletion

Neurologic Peripheral Nervous System:
hyporeflexia

Head And Neck Ears:
sensorineural deafness (in some patients)

Laboratory Abnormalities:
tissue-specific mtdna depletion (in some patients)
tissue-specific decrease in cox-positive fibers

Clinical features from OMIM®:

165510 (Updated 05-Mar-2021)

Drugs & Therapeutics for Optic Atrophy 13 with Retinal and Foveal Abnormalities

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 13 with Retinal and Foveal Abnormalities

Genetic Tests for Optic Atrophy 13 with Retinal and Foveal Abnormalities

Anatomical Context for Optic Atrophy 13 with Retinal and Foveal Abnormalities

Publications for Optic Atrophy 13 with Retinal and Foveal Abnormalities

Articles related to Optic Atrophy 13 with Retinal and Foveal Abnormalities:

# Title Authors PMID Year
1
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy. 57 6
31550237 2020
2
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. 57 6
31550240 2020
3
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. 57 6
31298765 2019
4
Familial optic atrophy with negative electroretinograms. 57
1580840 1992
5
Exploring of greater yam (Dioscorea alata L.) genotypes through biochemical screening for better cultivation in south Gujarat zone of India. 61
31564785 2019
6
Intra-specific genetic diversity in wild olives (Olea europaea ssp cuspidata) in Hormozgan Province, Iran. 61
22535406 2012
7
[Genetic polymorphism of Malassezia spp. yeast isolates from individuals with and without dermatological lesions]. 61
16433174 2005
8
Molecular characterization of Mycoplasma gallisepticum isolates from turkeys. 61
15529978 2004
9
RAPD analysis, serotyping, and esterase typing indicate that the population of Listeria monocytogenes strains recovered from cheese and from patients with listeriosis in Belgium are different. 61
11683471 2001

Variations for Optic Atrophy 13 with Retinal and Foveal Abnormalities

ClinVar genetic disease variations for Optic Atrophy 13 with Retinal and Foveal Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SSBP1 NM_003143.3(SSBP1):c.113G>A (p.Arg38Gln) SNV Pathogenic 977502 7:141443388-141443388 7:141743588-141743588
2 SSBP1 NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln) SNV Pathogenic 977503 7:141445301-141445301 7:141745501-141745501
3 SSBP1 NM_003143.3(SSBP1):c.422G>A (p.Ser141Asn) SNV Pathogenic 977504 7:141450129-141450129 7:141750329-141750329
4 SSBP1 NM_003143.3(SSBP1):c.119G>T (p.Gly40Val) SNV Pathogenic 977505 7:141443394-141443394 7:141743594-141743594

Expression for Optic Atrophy 13 with Retinal and Foveal Abnormalities

Search GEO for disease gene expression data for Optic Atrophy 13 with Retinal and Foveal Abnormalities.

Pathways for Optic Atrophy 13 with Retinal and Foveal Abnormalities

GO Terms for Optic Atrophy 13 with Retinal and Foveal Abnormalities

Sources for Optic Atrophy 13 with Retinal and Foveal Abnormalities

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....