MCID: PRM016
MIFTS: 22

Primary Optic Atrophy

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

Aliases & Classifications for Primary Optic Atrophy

MalaCards integrated aliases for Primary Optic Atrophy:

Name: Primary Optic Atrophy 12 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:10627
ICD9CM 36 377.11
SNOMED-CT 69 21098003
ICD10 34 H47.21
UMLS 74 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 ELN (Elastin). Affiliated tissues include eye.

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

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

MalaCards organs/tissues related to Primary Optic Atrophy:

42
Eye

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
Charcot-Marie-Tooth disease with primary optic atrophy; report of a case. ( 13716305 )
1960
12
Results of penicillin therapy in syphilitic primary optic atrophy. ( 13749666 )
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
The treatment of syphilitic primary optic atrophy with penicillin and with penicillin and malaria. ( 18113374 )
1949
19
Penicillin treatment of syphilitic primary optic atrophy; an interim report. ( 18121296 )
1949
20
Syphilitic primary optic atrophy. ( 18149023 )
1949
21
Primary optic atrophy in von Recklinghausen's disease (multiple neurofibromatosis). ( 18149501 )
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 cell proliferation GO:0008283 8.65 ELN
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 8.62 CD36 GCG

Sources for Primary Optic Atrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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