MCID: OPT037
MIFTS: 49

Optic Nerve Hypoplasia malady

Genetic diseases (common), Eye diseases, Neuronal diseases categories

Summaries for Optic Nerve Hypoplasia

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Wikipedia:65 Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic... more...

MalaCards based summary: Optic Nerve Hypoplasia, also known as optic nerve hypoplasia, bilateral, is related to septooptic dysplasia and coloboma, and has symptoms including autosomal dominant inheritance, visual impairment and optic nerve hypoplasia. An important gene associated with Optic Nerve Hypoplasia is PAX6 (paired box 6), and among its related pathways are Selected targets of Oct 3 4 and Cardiac Progenitor Differentiation. Affiliated tissues include brain, retina and pituitary, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

Description from OMIM:47 165550

Aliases & Classifications for Optic Nerve Hypoplasia

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Optic Nerve Hypoplasia, Aliases & Descriptions:

Name: Optic Nerve Hypoplasia 47 11
 
Optic Nerve Hypoplasia, Bilateral 24


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Eye diseases, Neuronal diseases


External Ids:

OMIM47 165550

Related Diseases for Optic Nerve Hypoplasia

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Diseases related to Optic Nerve Hypoplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1septooptic dysplasia30.4HESX1
2coloboma30.4PAX6, SOX2
3microphthalmia30.1PAX6, SOX2
4hypopituitarism10.6
5polymicrogyria with optic nerve hypoplasia10.6
6retinitis10.5
7diabetes insipidus10.4
8optic nerve hypoplasia, familial bilateral10.4
9aniridia10.3
10isolated optic nerve hypoplasia10.3
11microphthalmia, syndromic 310.3
12bornholm eye disease10.3
13arachnoiditis10.3
14fetal alcohol syndrome10.3
15amblyopia10.3
16hypothyroidism10.3
17arachnoid cysts10.3
18growth hormone deficiency10.3
19mitochondrial complex i deficiency10.1
20schizencephaly10.1
21chromosome 2p16.1-p15 deletion syndrome10.1
22donnai-barrow syndrome10.1
23muscular dystrophy-dystroglycanopathy , type a, 710.1
24spastic paraplegia 54, autosomal recessive10.1
25muscular dystrophy-dystroglycanopathy , type a, 110.1
26pancreatic and cerebellar agenesis10.1
27cognitive impairment with or without cerebellar ataxia10.1
28hemifacial microsomia10.1
29microphthalmia, isolated 810.1
30mental retardation and microcephaly with pontine and cerebellar hypoplasia10.1
31obesity10.1
32muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 1110.1
33holoprosencephaly-910.1
34cataract10.1
35hemangioma10.1
36hepatitis10.1
37hydrocephalus10.1
38male infertility10.1
39retinitis pigmentosa10.1
40blepharophimosis10.1
41leber hereditary optic neuropathy10.1
42infertility10.1
43duane retraction syndrome10.1
44cerebritis10.1
45lissencephaly10.1
46foster-kennedy syndrome10.1
47astigmatism10.1
48autism spectrum disorder10.1
49chondrodysplasia punctata10.1
50hyperthyroidism10.1

Graphical network of the top 20 diseases related to Optic Nerve Hypoplasia:



Diseases related to optic nerve hypoplasia

Symptoms for Optic Nerve Hypoplasia

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Symptoms by clinical synopsis from OMIM:

165550

Clinical features from OMIM:

165550

HPO human phenotypes related to Optic Nerve Hypoplasia:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 visual impairment HP:0000505
3 optic nerve hypoplasia HP:0000609

Drugs & Therapeutics for Optic Nerve Hypoplasia

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Drug clinical trials:

Search ClinicalTrials for Optic Nerve Hypoplasia

Search NIH Clinical Center for Optic Nerve Hypoplasia

Genetic Tests for Optic Nerve Hypoplasia

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Genetic tests related to Optic Nerve Hypoplasia:

id Genetic test Affiliating Genes
1 Optic Nerve Hypoplasia, Bilateral24

Anatomical Context for Optic Nerve Hypoplasia

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MalaCards organs/tissues related to Optic Nerve Hypoplasia:

33
Brain, Retina, Pituitary, Eye, Thyroid, Testes, Occipital lobe

Animal Models for Optic Nerve Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Optic Nerve Hypoplasia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1HESX1, PAX6, SOX2
2MP:00053778.8HESX1, PAX6, SOX2
3MP:00053828.6SOX2, PAX6, HESX1
4MP:00053888.5SOX2, PAX6, HESX1, NDUFS4
5MP:00053918.5NDUFS4, HESX1, PAX6, SOX2
6MP:00028738.4SOX2, PAX6, HESX1, NDUFS4
7MP:00036318.4NDUFS4, HESX1, PAX6, SOX2

Publications for Optic Nerve Hypoplasia

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Articles related to Optic Nerve Hypoplasia:

(show top 50)    (show all 188)
idTitleAuthorsYear
1
Clinical and demographic associations with optic nerve hypoplasia in New Zealand. (24825844)
2014
2
Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia. (23972277)
2014
3
A case of amblyopia with contralateral optic nerve hypoplasia. (23331175)
2013
4
Optical coherence tomographic findings in optic nerve hypoplasia. (24212314)
2013
5
Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. (24160732)
2013
6
Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. (23233151)
2013
7
Superior segmental optic nerve hypoplasia accompanied by progressive normal-tension glaucoma. (23118522)
2012
8
Congenital absence of gluteal muscles, optic nerve hypoplasia, and central nervous system hamartomas. (22146147)
2012
9
Macular thinning associated with unilateral optic nerve hypoplasia. (21323261)
2011
10
Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia. (22085631)
2011
11
On the use of "stem cells" for optic nerve hypoplasia. (21539980)
2011
12
Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia. (20337361)
2010
13
Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. (20370811)
2010
14
Evolving central hypothyroidism in children with optic nerve hypoplasia. (20432806)
2010
15
Prevalence and risk factors for disrupted circadian rhythmicity in children with optic nerve hypoplasia. (20576785)
2010
16
Teaching neuroimages: Superior segmental optic nerve hypoplasia confirmed by optical coherence tomography. (19414718)
2009
17
Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia. (18637109)
2009
18
Superior segmental optic nerve hypoplasia in youth. (19089568)
2008
19
The syndrome of optic nerve hypoplasia. (18713575)
2008
20
Unilateral clinical anophthalmia with optic nerve hypoplasia in the fellow eye. (16598982)
2006
21
Optic nerve hypoplasia and growth hormone deficiency in a cholestatic infant. (16638511)
2006
22
Endocrinological and auxological abnormalities in young children with optic nerve hypoplasia: a prospective study. (16423602)
2006
23
Achiasmia and unilateral optic nerve hypoplasia in an otherwise healthy infant. (16445455)
2006
24
Superior segmental optic nerve hypoplasia and diabetes mellitus. (15866063)
2005
25
An optic nerve hypoplasia and coloboma in a patient with hemifacial microsomia. (15305536)
2004
26
Acuity, ophthalmoscopy, and visually evoked potentials in the prediction of visual outcome in infants with bilateral optic nerve hypoplasia. (12736623)
2003
27
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. (12874108)
2003
28
Oval-shaped cornea, lens duplication, and optic nerve hypoplasia associated with myelomeningocele. (11124675)
2000
29
The clinical and morphologic spectrum of optic nerve hypoplasia. (10477223)
1999
30
Netrin-1 and DCC mediate axon guidance locally at the optic disc: loss of function leads to optic nerve hypoplasia. (9331350)
1997
31
Optic nerve hypoplasia in fetal alcohol syndrome: an update. (9352281)
1997
32
Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus. (8909213)
1996
33
Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
1994
34
Optic nerve hypoplasia in an acute exposure model of the fetal alcohol syndrome. (8052190)
1994
35
Big discs with optic nerve hypoplasia. (1832688)
1991
36
Response to growth hormone-releasing hormone as evidence of hypothalamic defect in optic nerve hypoplasia. (2545075)
1989
37
The disc-macula distance to disc diameter ratio: a new test for confirming optic nerve hypoplasia in young children. (3397860)
1988
38
Localising patterns of optic nerve hypoplasia--retina to occipital lobe. (3355804)
1988
39
Optic nerve hypoplasia. (3819295)
1987
40
Optic nerve hypoplasia. (3310293)
1987
41
Optic nerve hypoplasia: a review. (3298397)
1986
42
Optic nerve hypoplasia: changing perspectives. (3545264)
1986
43
Optic nerve hypoplasia: papillary diameter and clinical correlation. (2934428)
1985
44
Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia. A review of 16 cases. (3976626)
1985
45
Optic nerve hypoplasia and visual function (a quantitative correlation). (6663376)
1983
46
Duane's retraction syndrome associated with optic nerve hypoplasia. (7365645)
1980
47
Optic nerve hypoplasia in chondrodysplasia punctata. (915643)
1977
48
Bilateral optic nerve hypoplasia in a pup. (1245453)
1976
49
Optic nerve hypoplasia. (799278)
1976
50
Bilateral optic nerve hypoplasia in a colt. (5816066)
1969

Variations for Optic Nerve Hypoplasia

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UniProtKB/Swiss-Prot genetic disease variations for Optic Nerve Hypoplasia:

64
id Symbol AA change Variation ID SNP ID
1PAX6p.Ser292IleVAR_017543
2PAX6p.Met381ValVAR_017546
3PAX6p.Thr391AlaVAR_017547

Clinvar genetic disease variations for Optic Nerve Hypoplasia:

7
id Gene Variation Type Significance SNP ID Assembly Location
1PAX6NM_000280.4(PAX6): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs121907924GRCh37Chr 11, 31816247: 31816247

Expression for genes affiliated with Optic Nerve Hypoplasia

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Search GEO for disease gene expression data for Optic Nerve Hypoplasia.

Pathways for genes affiliated with Optic Nerve Hypoplasia

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Pathways related to Optic Nerve Hypoplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5SOX2, PAX6
29.5PAX6, SOX2
3
Show member pathways
9.1PAX6, SOX2, TUBA8
48.9HESX1, PAX6, SOX2

Compounds for genes affiliated with Optic Nerve Hypoplasia

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GO Terms for genes affiliated with Optic Nerve Hypoplasia

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Biological processes related to Optic Nerve Hypoplasia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of epithelial cell differentiationGO:00308589.7PAX6, SOX2
2positive regulation of neuroblast proliferationGO:00020529.7PAX6, SOX2
3neuron fate commitmentGO:00486639.7PAX6, SOX2
4eye developmentGO:00016549.7PAX6, SOX2
5pituitary gland developmentGO:00219839.6SOX2, PAX6
6negative regulation of neuron differentiationGO:00456659.5PAX6, SOX2
7negative regulation of epithelial cell proliferationGO:00506809.4PAX6, SOX2
8brain developmentGO:00074209.3NDUFS4, HESX1
9response to woundingGO:00096119.2PAX6, SOX2

Molecular functions related to Optic Nerve Hypoplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00037008.9HESX1, PAX6, SOX2

Products for genes affiliated with Optic Nerve Hypoplasia

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Sources for Optic Nerve Hypoplasia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet