MCID: OPT055
MIFTS: 40

Optic Atrophy Plus Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Ear diseases, Metabolic diseases categories

Summaries for Optic Atrophy Plus Syndrome

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NIH Rare Diseases:41 Dominant optic atrophy (doa) is an inherited optic nerve disorder. it is usually diagnosed in early childhood due to mild, unexplained visual loss related to optic disc pallor or atrophy, and a family history of doa. affected individuals usually develop moderate visual loss and color vision defects. the severity varies; visual acuity can range from normal to legal blindness. about 20% of individuals with doa have non-ocular signs and symptoms such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). in these individuals, the condition may be referred to as doa plus. doa is inherited in an autosomal dominant manner. mutations in 2 genes (opa1 and opa3) are known to cause doa, and the locations of 3 other genes (loci) have been identified (known as opa4, opa5, and opa8).opa1 causes the majority of cases. mutations in the opa3 gene are rare and are also associated with premature cataracts. there is currently no cure for doa, but individuals may benefit from low vision aids. last updated: 11/13/2013

MalaCards based summary: Optic Atrophy Plus Syndrome, also known as optic atrophy, is related to leber hereditary optic neuropathy and wolfram syndrome, and has symptoms including autosomal dominant inheritance, progressive sensorineural hearing impairment and strabismus. An important gene associated with Optic Atrophy Plus Syndrome is OPA1 (optic atrophy 1 (autosomal dominant)). Affiliated tissues include eye, and related mouse phenotypes are adipose tissue and craniofacial.

OMIM:45 Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an... (125250) more...

Aliases & Classifications for Optic Atrophy Plus Syndrome

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Optic Atrophy Plus Syndrome, Aliases & Descriptions:

Name: Optic Atrophy Plus Syndrome 45
Optic Atrophy 9 11 43 22 60
Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 45 10 60
Atrophy of Optic Disc 9 60
3-Methylglutaconic Aciduria Type 3 60
 
Optic Atrophy, Autosomal Dominant 60
Autosomal Dominant Optic Atrophy 41
Dominant Optic Atrophy 41
Doa 41


Classifications:



External Ids:

OMIM45 125250
Disease Ontology9 DOID:5723
MeSH33 D009896
NCIt38 C34863
ICD9CM27 377.1, 377.10
ICD1025 H47.2, H48.0

Related Diseases for Optic Atrophy Plus Syndrome

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Diseases in the Optic Atrophy-7 family:

Optic Atrophy 1 Optic Atrophy 6
Optic Atrophy 5 optic atrophy plus syndrome
Primary Optic Atrophy Optic Atrophy 2

Diseases related to Optic Atrophy Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 474)
idRelated DiseaseScoreTop Affiliating Genes
1leber hereditary optic neuropathy30.7OPA3, OPA1
2wolfram syndrome10.7
3primary optic atrophy10.7
4neuropathy10.7
5retinitis10.7
6optic atrophy 110.7
7wolfram-like syndrome, autosomal dominant10.7
8peho syndrome10.6
9diabetes insipidus10.6
10ataxia10.5
11glaucomatous atrophy of optic disc10.5
12optic atrophy 210.5
13spasticity10.5
14gapo syndrome10.5
15spastic paraplegia, optic atrophy, and neuropathy10.5
16paraplegia10.5
17cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss10.5
18arts syndrome10.4
19optic atrophy 610.4
20dystonia10.4
21mental retardation10.4
22optic atrophy 510.4
23charcot-marie-tooth disease, x-linked recessive, 510.4
24cataract10.4
25choroiditis10.4
26sensorineural hearing loss10.4
27autosomal recessive optic atrophy, hearing loss, and peripheral neuropathy10.4
283-methylglutaconic aciduria, type iii10.4
29opa3-related 3-methylglutaconic aciduria10.4
30papilledema10.3
31peripheral neuropathy10.3
32behr syndrome10.3
33short stature with optic atrophy and pelger-huët anomaly syndrome10.3
34bosch-boonstra-schaaf optic atrophy syndrome10.3
35neurodegeneration with optic atrophy, childhood onset10.3
36leber congenital amaurosis10.3
37microcephaly10.3
38partial optic atrophy10.3
39autosomal recessive optic atrophy, opa6 type10.3
40thiamine-responsive megaloblastic anemia syndrome10.2
41leigh syndrome10.2
42spinocerebellar ataxia, autosomal recessive 510.2
43capos syndrome10.2
44hydrocephalus10.2
45ophthalmoplegia10.2
46berk-tabatznik syndrome10.2
47leber hereditary optic neuropathy with dystonia10.2
48optic atrophy 1 and deafness10.2
49x-linked charcot-marie-tooth disease type 510.2
50blindness10.2

Graphical network of the top 20 diseases related to Optic Atrophy Plus Syndrome:



Diseases related to optic atrophy plus syndrome

Symptoms for Optic Atrophy Plus Syndrome

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Symptoms by clinical synopsis from OMIM:

125250

Clinical features from OMIM:

125250

HPO human phenotypes related to Optic Atrophy Plus Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 progressive sensorineural hearing impairment HP:0000408
3 strabismus HP:0000486
4 visual impairment HP:0000505
5 ptosis HP:0000508
6 tritanomaly HP:0000552
7 centrocecal scotoma HP:0000576
8 ophthalmoplegia HP:0000602
9 central scotoma HP:0000603
10 red-green dyschromatopsia HP:0000642
11 optic atrophy HP:0000648
12 reduced amplitude of pattern visual evoked potentials HP:0000650
13 horizontal nystagmus HP:0000666
14 ataxia HP:0001251
15 myopathy HP:0003198
16 increased variability in muscle fiber diameter HP:0003557
17 phenotypic variability HP:0003812
18 abnormal auditory evoked potentials HP:0006958
19 peripheral neuropathy HP:0009830

Drugs & Therapeutics for Optic Atrophy Plus Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Optic Atrophy Plus Syndrome

Genetic Tests for Optic Atrophy Plus Syndrome

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Genetic tests related to Optic Atrophy Plus Syndrome:

id Genetic test Affiliating Genes
1 Optic Atrophy22

Anatomical Context for Optic Atrophy Plus Syndrome

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MalaCards organs/tissues related to Optic Atrophy Plus Syndrome:

31
Eye

Animal Models for Optic Atrophy Plus Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Optic Atrophy Plus Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2OPA3, OPA1
2MP:00053829.1OPA3, OPA1
3MP:00053859.1OPA3, OPA1
4MP:00053919.0OPA1, OPA3
5MP:00053698.8OPA3, OPA1

Publications for Optic Atrophy Plus Syndrome

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Articles related to Optic Atrophy Plus Syndrome:

idTitleAuthorsYear
1
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. (11668429)
2001

Variations for Optic Atrophy Plus Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Optic Atrophy Plus Syndrome:

62
id Symbol AA change Variation ID SNP ID
1OPA1p.Arg445HisVAR_015741
2OPA1p.Ser545ArgVAR_026533
3OPA1p.Ala357ThrVAR_060836rs190223702
4OPA1p.Tyr582CysVAR_060853
5OPA1p.Gly439ValVAR_072127
6OPA1p.Thr449ProVAR_072128
7OPA1p.Val910AspVAR_072132

Clinvar genetic disease variations for Optic Atrophy Plus Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1OPA3NM_025136.3(OPA3): c.415C> T (p.Gln139Ter)single nucleotide variantPathogenicrs28937899GRCh37Chr 19, 46056897: 46056897
2OPA1NM_015560.2(OPA1): c.1294A> G (p.Ile432Val)single nucleotide variantPathogenicrs387906899GRCh37Chr 3, 193361398: 193361398
3OPA1OPA1, SER545ARGsingle nucleotide variantPathogenic
4OPA1NM_015560.2(OPA1): c.1316G> T (p.Gly439Val)single nucleotide variantPathogenicrs387906900GRCh37Chr 3, 193361767: 193361767
5OPA1NM_015560.2(OPA1): c.2729T> A (p.Val910Asp)single nucleotide variantPathogenicrs387906901GRCh37Chr 3, 193384980: 193384980
6OPA3NM_001017989.2(OPA3): c.143-24456G> Csingle nucleotide variantPathogenicrs80356523GRCh37Chr 19, 46057170: 46057170
7OPA3NM_025136.3(OPA3): c.320_337del18 (p.Gln108_Glu113del)deletionPathogenicrs80356526GRCh37Chr 19, 46056975: 46056992
8OPA1NM_015560.2(OPA1): c.2708_2711delTTAG (p.Val903Glyfs)deletionPathogenicrs80356530GRCh37Chr 3, 193384959: 193384962
9OPA1NM_015560.2(OPA1): c.1146A> G (p.Ile382Met)single nucleotide variantPathogenicrs143319805GRCh37Chr 3, 193361167: 193361167
10OPA1NM_015560.2(OPA1): c.1745A> G (p.Tyr582Cys)single nucleotide variantPathogenicrs121908376GRCh37Chr 3, 193365898: 193365898
11OPA1NM_015560.2(OPA1): c.1334G> A (p.Arg445His)single nucleotide variantPathogenicrs80356529GRCh37Chr 3, 193361785: 193361785
12OPA1OPA1, 2-BP DEL, 2848GAdeletionPathogenic

Expression for genes affiliated with Optic Atrophy Plus Syndrome

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Search GEO for disease gene expression data for Optic Atrophy Plus Syndrome.

Pathways for genes affiliated with Optic Atrophy Plus Syndrome

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Compounds for genes affiliated with Optic Atrophy Plus Syndrome

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GO Terms for genes affiliated with Optic Atrophy Plus Syndrome

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Cellular components related to Optic Atrophy Plus Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057399.1OPA3, OPA1

Biological processes related to Optic Atrophy Plus Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1visual perceptionGO:00076019.1OPA3, OPA1

Products for genes affiliated with Optic Atrophy Plus Syndrome

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Sources for Optic Atrophy Plus Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
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45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet