MCID: OPT037
MIFTS: 44

Optic Nerve Hypoplasia malady

Genetic diseases, Eye diseases, Rare diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Optic Nerve Hypoplasia

About this section


Fully expand this MalaCard
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 isolated optic nerve hypoplasia, is related to septo-optic dysplasia and coloboma, and has symptoms including 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 eye, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

Description from OMIM:46 165550

Aliases & Classifications for Optic Nerve Hypoplasia

About this section
Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

Optic Nerve Hypoplasia, Aliases & Descriptions:

Name: Optic Nerve Hypoplasia 46
 
Isolated Optic Nerve Hypoplasia 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases
Orphanet: 48 
Rare eye diseases


External Ids:

OMIM46 165550
ICD10 via Orphanet26 H47.0

Related Diseases for Optic Nerve Hypoplasia

About this section

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



Diseases related to optic nerve hypoplasia

Symptoms for Optic Nerve Hypoplasia

About this section

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

About this section

Drug clinical trials:

Search ClinicalTrials for Optic Nerve Hypoplasia

Search NIH Clinical Center for Optic Nerve Hypoplasia

Genetic Tests for Optic Nerve Hypoplasia

About this section

Anatomical Context for Optic Nerve Hypoplasia

About this section

MalaCards organs/tissues related to Optic Nerve Hypoplasia:

32
Brain, Retina, Eye, Pituitary, Thyroid, Testes, Occipital lobe

Animal Models for Optic Nerve Hypoplasia or affiliated genes

About this section

MGI Mouse Phenotypes related to Optic Nerve Hypoplasia:

36
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

About this section

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
Prevalence of superior segmental optic nerve hypoplasia in Korea. (19484440)
2009
17
Teaching neuroimages: Superior segmental optic nerve hypoplasia confirmed by optical coherence tomography. (19414718)
2009
18
Monocular nystagmus with sectoral optic nerve hypoplasia in a patient with septo-optic dysplasia. (18637109)
2009
19
Superior segmental optic nerve hypoplasia in youth. (19089568)
2008
20
The syndrome of optic nerve hypoplasia. (18713575)
2008
21
Unilateral clinical anophthalmia with optic nerve hypoplasia in the fellow eye. (16598982)
2006
22
Optic nerve hypoplasia and growth hormone deficiency in a cholestatic infant. (16638511)
2006
23
Endocrinological and auxological abnormalities in young children with optic nerve hypoplasia: a prospective study. (16423602)
2006
24
Achiasmia and unilateral optic nerve hypoplasia in an otherwise healthy infant. (16445455)
2006
25
Superior segmental optic nerve hypoplasia and diabetes mellitus. (15866063)
2005
26
An optic nerve hypoplasia and coloboma in a patient with hemifacial microsomia. (15305536)
2004
27
Acuity, ophthalmoscopy, and visually evoked potentials in the prediction of visual outcome in infants with bilateral optic nerve hypoplasia. (12736623)
2003
28
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. (12874108)
2003
29
Oval-shaped cornea, lens duplication, and optic nerve hypoplasia associated with myelomeningocele. (11124675)
2000
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 in the fetal alcohol syndrome: a mouse model. (7649829)
1995
34
Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
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

About this section

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:

6
id Gene Name 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

About this section
Expression patterns in normal tissues for genes affiliated with Optic Nerve Hypoplasia

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

Pathways for genes affiliated with Optic Nerve Hypoplasia

About this section

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

About this section

GO Terms for genes affiliated with Optic Nerve Hypoplasia

About this section

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of epithelial cell differentiationGO:0308589.7PAX6, SOX2
2positive regulation of neuroblast proliferationGO:0020529.7PAX6, SOX2
3neuron fate commitmentGO:0486639.7PAX6, SOX2
4eye developmentGO:0016549.7PAX6, SOX2
5pituitary gland developmentGO:0219839.6SOX2, PAX6
6negative regulation of neuron differentiationGO:0456659.5PAX6, SOX2
7negative regulation of epithelial cell proliferationGO:0506809.4PAX6, SOX2
8brain developmentGO:0074209.3NDUFS4, HESX1
9response to woundingGO:0096119.2PAX6, SOX2

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:0037008.9HESX1, PAX6, SOX2

Products for genes affiliated with Optic Nerve Hypoplasia

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Optic Nerve Hypoplasia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet