MCID: PRM016
MIFTS: 22

Primary Optic Atrophy

Categories: 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 70

Classifications:



External Ids:

Disease Ontology 12 DOID:10627
ICD9CM 34 377.11
SNOMED-CT 67 21098003
ICD10 32 H47.21
UMLS 70 C0155291

Summaries for Primary Optic Atrophy

MalaCards based summary : Primary Optic Atrophy is related to 3-methylglutaconic aciduria, type iii and branchiootic syndrome 1. An important gene associated with Primary Optic Atrophy is CD36 (CD36 Molecule). Affiliated tissues include eye, pituitary and heart.

Related Diseases for Primary Optic Atrophy

Diseases in the Primary Optic Atrophy family:

Optic Atrophy 3, Autosomal Dominant Optic Atrophy 1
Optic Atrophy 6 Optic Atrophy 2
Optic Atrophy 4 Optic Atrophy 5
Optic Atrophy 9 Optic Atrophy 8
Optic Atrophy 11 Optic Atrophy 12

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type iii 10.7
2 branchiootic syndrome 1 10.3
3 pelvic organ prolapse 10.1 ELN CD36
4 telangiectasis 10.1 H2AC18 ELN
5 collagen disease 10.1 H2AC18 ELN
6 bacterial pneumonia 10.1 H2AC18 ELN
7 heart valve disease 10.1 H2AC18 ELN
8 endogenous depression 10.1 PRL H2AC18
9 sexual disorder 10.1 PRL H2AC18
10 uterine benign neoplasm 10.1 PRL H2AC18
11 chromosomal deletion syndrome 10.0 H2AC18 ELN
12 reproductive organ benign neoplasm 10.0 PRL H2AC18
13 central nervous system benign neoplasm 10.0 PRL H2AC18
14 tabes dorsalis 10.0
15 cocaine abuse 10.0 PRL H2AC18
16 disorder of sexual development 10.0 PRL H2AC18
17 loeys-dietz syndrome 10.0 H2AC18 ELN
18 pituitary gland disease 10.0 PRL H2AC18
19 inguinal hernia 10.0 ELN CD36
20 thyroid gland disease 10.0 PRL H2AC18
21 hutchinson-gilford progeria syndrome 10.0 H2AC18 ELN
22 cranial nerve palsy 10.0 SLC52A1 PRL
23 endocrine organ benign neoplasm 10.0 PRL H2AC18
24 substance abuse 10.0 PRL H2AC18
25 connective tissue disease 9.9 H2AC18 ELN CD36
26 wolfram syndrome 1 9.9
27 neuropathy, hereditary motor and sensory, type via, with optic atrophy 9.9
28 yemenite deaf-blind hypopigmentation syndrome 9.9
29 malaria 9.9
30 intraocular pressure quantitative trait locus 9.9
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
32 asymptomatic neurosyphilis 9.9
33 charcot-marie-tooth disease 9.9
34 tooth disease 9.9
35 hydronephrosis 9.9
36 osteopetrosis 9.9
37 optic nerve disease 9.9
38 syphilis 9.9
39 paraplegia 9.9
40 neurofibromatosis 9.9
41 diabetes mellitus 9.9
42 meningitis 9.9
43 glioma 9.9
44 neurosyphilis 9.9
45 tuberculous meningitis 9.9
46 glial tumor 9.9
47 skeletal muscle disease 9.9
48 lymphoid interstitial pneumonia 9.9 PRL H2AC18 ELN
49 systemic scleroderma 9.9 PRL H2AC18 ELN
50 amelogenesis imperfecta, type ig 9.9 PRL H2AC18

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:

40
Eye, Pituitary, Heart, Skeletal Muscle, Thyroid

Publications for Primary Optic Atrophy

Articles related to Primary Optic Atrophy:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Congenital Herniation of the Gyrus Rectus Resulting in Compressive Optic Neuropathy. 61
32624041 2020
2
Bilateral primary optic neuropathy as the presenting manifestation of tuberculosis in an immunocompetent patient. 61
31367519 2019
3
Erb's paraplegia with primary optic atrophy: Unusual presentation of neurosyphilis: Case report and review of literature. 61
25024583 2014
4
Paraganglioma of right cervical plexus-a case report. 61
24427637 2013
5
Unusual fundus examination findings in tuberculous meningitis. 61
23396930 2013
6
Sotos syndrome: An interesting disorder with gigantism. 61
19893668 2008
7
[The clinical study of the damage of visual function caused by pituitary tumor]. 61
18709961 2008
8
Clinical picture of craniopharyngioma in childhood. 61
17703145 2007
9
[Operative treatment of anterior cranial base meningiomas]. 61
17199174 2006
10
[Charles Bonnet syndrome: a case presentation]. 61
15793700 2005
11
An unusual presentation of medial sphenoid wing meningioma. 61
15200208 2004
12
Primary optic atrophy and autosomal dominant osteopetrosis type II. 61
12240863 2002
13
[Features of retinal hemodynamics and the optic nerve in developing primary atrophy in tumors of the chiasmal-sellar area]. 61
11845695 2001
14
Neuro-ophthalmic features in pediatric tubercular meningoencephalitis. 61
11495311 2001
15
Spontaneous intraventricular rupture of craniopharyngioma cyst. 61
11118572 2000
16
Sporadic optico-acoustic degeneration with peripheral neuropathy. 61
29542476 1995
17
[Ocular findings in pituitary adenoma]. 61
1338589 1992
18
Optic nerve head extracellular matrix in primary optic atrophy and experimental glaucoma. 61
2369339 1990
19
Tropical ataxic neuropathy in Liberians. 61
2175467 1990
20
[Description of Wolfram syndrome (DIDMOAD) on the basis of a new case]. 61
2781075 1989
21
Screening for mouse retinal degenerations. I. Correlation of indirect ophthalmoscopy, electroretinograms, and histology. 61
2776628 1989
22
Incomplete Wolfram syndrome: clinical and electrophysiologic study of two familial cases. 61
2721980 1989
23
Ocular manifestations of tubercular meningitis: a clinico-biochemical study. 61
3723294 1986
24
Wolfram (DIDMOAD) syndrome: a complex long-term problem in management. 61
3086928 1986
25
The eye in idiopathic mental retardation. 61
3586408 1986
26
[Primary optic nerve meningioma]. 61
6727247 1984
27
[Wolfram's syndrome characterized by diabetes mellitus type I, primary optic atrophy, neurogenic deafness, malformation of the urinary tract and multiple pigmented nevi]. 61
6642108 1983
28
Progressive visual loss, diabetes mellitus, and associated abnormalities (DIDMOAD syndrome). 61
6226706 1982
29
[The association of juvenile diabetes mellitus, primary optic atrophy and deafness (the Wolfram and Ikkos syndrome). Apropos of a personal case]. 61
7005648 1980
30
Diabetes mellitus, primary optic atrophy and sensorineural deafness: a rare syndrome. 61
710125 1978
31
[Familial incidence of juvenile diabetes mellitus and primary optic atrophy (author's transl)]. 61
664711 1978
32
Treatment of neurosyphilis. 61
1010782 1976
33
[Nasopharyngeal extension of a large chromophobe adenoma of the pituitary (author's transl)]. 61
986020 1976
34
Primary optic atrophy--as a part of the spectrum of other hereditary neurological disorders. 61
1010827 1976
35
Co-existent diabetes mellitus and diabetes insipidus, a familial disease. 61
1206090 1975
36
[Familial syndrome associating juvenile diabetes mellitus and primary optic atrophy. Apropos of 3 cases]. 61
1129024 1975
37
[Juvenile diabetes and primary optic atrophy]. 61
4364916 1974
38
Primary optic atrophy vs glaucomatous optic atrophy. 61
5566105 1971
39
Some ischemic changes that cause primary optic atrophy. 61
5552028 1971
40
Association of juvenile diabetes mellitus, primary optic atrophy and perceptive hearing loss in three sibs, with additional idiopathic diabetes mellitus insipidus in one case. 61
5468975 1970
41
[Nontumoral obstruction of the foramen of Magendie revealed by bilateral primary optic atrophy]. 61
5512201 1970
42
[Primary optic atrophy and perception deafness in a diabetic child]. 61
5402835 1969
43
[Primary optic atrophy in diabetic children. Apropos of 2 cases]. 61
5407723 1969
44
Treatment of a case of primary optic atrophy. 61
6002611 1966
45
PRIMARY OPTIC ATROPHY FROM ACQUIRED DILATATION OF THE THIRD VENTRICLE. 61
14167196 1964
46
[PRIMARY OPTIC ATROPHY AND NEUROGENIC DEAFNESS IN JUVENILE DIABETES. (APROPOS OF 3 CASES)]. 61
14128492 1964
47
[PRIMARY OPTIC ATROPHY AND NEUROGENIC DEAFNESS IN 2 DIABETIC BROTHERS]. 61
14097461 1963
48
Results of penicillin therapy in syphilitic primary optic atrophy. 61
13749666 1960
49
Charcot-Marie-Tooth disease with primary optic atrophy; report of a case. 61
13716305 1960
50
Tabes dorsalis with special reference to primary optic atrophy. 61
13471961 1957

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

Sources for Primary Optic Atrophy

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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