MCID: OPT024
MIFTS: 17

Optic Atrophy 5

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

Aliases & Classifications for Optic Atrophy 5

MalaCards integrated aliases for Optic Atrophy 5:

Name: Optic Atrophy 5 57 53 75 13 6 73
Opa5 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in 1st to 3rd decade of life
slowly progressive
three unrelated french families have been reported (last curated november 2017)


HPO:

32
optic atrophy 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610708
MedGen 42 C1853139
MeSH 44 D015418
UMLS 73 C1853139

Summaries for Optic Atrophy 5

UniProtKB/Swiss-Prot : 75 Optic atrophy 5: A form of optic atrophy, a disease characterized by progressive visual loss in association with a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA5 is an autosomal dominant non-syndromic form that manifests as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and dyschromatopsia.

MalaCards based summary : Optic Atrophy 5, is also known as opa5. An important gene associated with Optic Atrophy 5 is DNM1L (Dynamin 1 Like). Affiliated tissues include retina, and related phenotypes are tritanomaly and central scotoma

OMIM : 57 OPA5 is an autosomal dominant form of nonsyndromic optic atrophy, manifest as slowly progressive visual loss with variable onset from the first to third decades. Additional ocular abnormalities may include central scotoma and color vision defects. The pathogenesis is related to defective mitochondrial fission (summary by Gerber et al., 2017). For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). (610708)

Related Diseases for Optic Atrophy 5

Symptoms & Phenotypes for Optic Atrophy 5

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic nerve atrophy
slow decrease in visual acuity
dyschromatopsia, blue-yellow
central scotoma


Clinical features from OMIM:

610708

Human phenotypes related to Optic Atrophy 5:

32
# Description HPO Frequency HPO Source Accession
1 tritanomaly 32 HP:0000552
2 central scotoma 32 HP:0000603
3 optic atrophy 32 HP:0000648
4 slow decrease in visual acuity 32 HP:0007924

Drugs & Therapeutics for Optic Atrophy 5

Search Clinical Trials , NIH Clinical Center for Optic Atrophy 5

Genetic Tests for Optic Atrophy 5

Anatomical Context for Optic Atrophy 5

MalaCards organs/tissues related to Optic Atrophy 5:

41
Retina

Publications for Optic Atrophy 5

Variations for Optic Atrophy 5

ClinVar genetic disease variations for Optic Atrophy 5:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM1L NM_012062.4(DNM1L): c.5A> C (p.Glu2Ala) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 32832302: 32832302
2 DNM1L NM_012062.4(DNM1L): c.5A> C (p.Glu2Ala) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 32679368: 32679368
3 DNM1L NM_012062.4(DNM1L): c.575C> A (p.Ala192Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 32866261: 32866261
4 DNM1L NM_012062.4(DNM1L): c.575C> A (p.Ala192Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 32713327: 32713327

Expression for Optic Atrophy 5

Search GEO for disease gene expression data for Optic Atrophy 5.

Pathways for Optic Atrophy 5

GO Terms for Optic Atrophy 5

Sources for Optic Atrophy 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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