MCID: PRM016
MIFTS: 23

Primary Optic Atrophy

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

Aliases & Classifications for Primary Optic Atrophy

MalaCards integrated aliases for Primary Optic Atrophy:

Name: Primary Optic Atrophy 12 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:10627
ICD10 33 H47.21
ICD9CM 35 377.11
SNOMED-CT 68 21098003
UMLS 73 C0155291

Summaries for Primary Optic Atrophy

MalaCards based summary : Primary Optic Atrophy is related to 3-methylglutaconic aciduria, type iii and diabetes mellitus. An important gene associated with Primary Optic Atrophy is CD36 (CD36 Molecule). Related phenotype is Increased viability.

Related Diseases for Primary Optic Atrophy

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



Diseases related to Primary Optic Atrophy

Symptoms & Phenotypes for Primary Optic Atrophy

GenomeRNAi Phenotypes related to Primary Optic Atrophy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00386-A-1 8.92 CD36 ELN FLNA GCG

Drugs & Therapeutics for Primary Optic Atrophy

Search Clinical Trials , NIH Clinical Center for Primary Optic Atrophy

Genetic Tests for Primary Optic Atrophy

Anatomical Context for Primary Optic Atrophy

Publications for Primary Optic Atrophy

Articles related to Primary Optic Atrophy:

(show all 27)
# Title Authors Year
1
Erb's paraplegia with primary optic atrophy: Unusual presentation of neurosyphilis: Case report and review of literature. ( 25024583 )
2014
2
Primary optic atrophy and autosomal dominant osteopetrosis type II. ( 12240863 )
2002
3
Optic nerve head extracellular matrix in primary optic atrophy and experimental glaucoma. ( 2369339 )
1990
4
Diabetes mellitus, primary optic atrophy and sensorineural deafness: a rare syndrome. ( 710125 )
1978
5
Primary optic atrophy--as a part of the spectrum of other hereditary neurological disorders. ( 1010827 )
1976
6
Some ischemic changes that cause primary optic atrophy. ( 5552028 )
1971
7
Primary optic atrophy vs glaucomatous optic atrophy. ( 5566105 )
1971
8
Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case. ( 5468975 )
1970
9
Treatment of a case of primary optic atrophy. ( 6002611 )
1966
10
PRIMARY OPTIC ATROPHY FROM ACQUIRED DILATATION OF THE THIRD VENTRICLE. ( 14167196 )
1964
11
Results of penicillin therapy in syphilitic primary optic atrophy. ( 13749666 )
1960
12
Charcot-Marie-Tooth disease with primary optic atrophy; report of a case. ( 13716305 )
1960
13
Tabes dorsalis with special reference to primary optic atrophy. ( 13471961 )
1957
14
Primary optic atrophy in diabetes mellitus. ( 13356719 )
1956
15
Some observations on the course of treated syphilitic primary optic atrophy. ( 14381497 )
1955
16
Primary optic atrophy in von Recklinghausen's disease; report of a case. ( 13114320 )
1954
17
Sarcoid; primary optic atrophy. ( 14837504 )
1951
18
Primary optic atrophy in von Recklinghausen's disease (multiple neurofibromatosis). ( 18149501 )
1949
19
Penicillin treatment of syphilitic primary optic atrophy; an interim report. ( 18121296 )
1949
20
The treatment of syphilitic primary optic atrophy with penicillin and with penicillin and malaria. ( 18113374 )
1949
21
Syphilitic primary optic atrophy. ( 18149023 )
1949
22
The frequency of syphilitic primary optic atrophy in dementia paralytica; a clinico-anatomic study. ( 18864981 )
1948
23
Syphilitic primary optic atrophy as a cause of blindness; importance of early diagnosis. ( 18895276 )
1948
24
Syphilitic primary optic atrophy: a review of 54 cases. ( 20271298 )
1947
25
Malaria therapy in syphilitic primary optic atrophy. ( 21006178 )
1946
26
Primary optic atrophy in a tabetic African. ( 21016221 )
1945
27
Bilateral Primary Optic Atrophy from Glioma of the Nerves. ( 19991121 )
1937

Variations for Primary Optic Atrophy

Expression for Primary Optic Atrophy

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

Pathways for Primary Optic Atrophy

GO Terms for Primary Optic Atrophy

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.16 CD36 GCG
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 8.96 CD36 FLNA
3 platelet degranulation GO:0002576 8.62 CD36 FLNA

Sources for Primary Optic Atrophy

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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