MCID: OPT037
MIFTS: 50

Optic Nerve Hypoplasia malady

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

Aliases & Classifications for Optic Nerve Hypoplasia

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Aliases & Descriptions for Optic Nerve Hypoplasia:

Name: Optic Nerve Hypoplasia 50 23 25 12
Bilateral Optic Nerve Hypoplasia 68 25
Optic Nerve Hypoplasia, Bilateral Optic Nerve Aplasia, Bilateral, Included 50
Optic Nerve Hypoplasia, Bilateral 23
 
Isolated Optic Nerve Hypoplasia 52
Bilateral Optic Nerve Aplasia 68
Bonh 68

Characteristics:

Orphanet epidemiological data:

52
isolated optic nerve hypoplasia:
Inheritance: Autosomal dominant

HPO:

62
optic nerve hypoplasia:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 52 
Rare eye diseases


External Ids:

OMIM50 165550
Orphanet52 ORPHA137902
ICD10 via Orphanet29 H47.0
MeSH37 D000013

Summaries for Optic Nerve Hypoplasia

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UniProtKB/Swiss-Prot:68 Bilateral optic nerve hypoplasia: A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary.

MalaCards based summary: Optic Nerve Hypoplasia, also known as bilateral optic nerve hypoplasia, is related to schizencephaly and polymicrogyria with optic nerve hypoplasia, and has symptoms including visual impairment, optic nerve hypoplasia and reduced visual acuity. An important gene associated with Optic Nerve Hypoplasia is PAX6 (Paired Box 6), and among its related pathways are Cardiac Progenitor Differentiation and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include pituitary, brain and retina, and related mouse phenotypes are taste/olfaction and vision/eye.

Wikipedia:69 Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic... more...

Description from OMIM:50 165550

Related Diseases for Optic Nerve Hypoplasia

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

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1schizencephaly29.9HESX1, SOX2
2polymicrogyria with optic nerve hypoplasia12.5
3optic nerve hypoplasia, familial bilateral12.2
4microphthalmia, syndromic 311.3
5aniridia10.6
6megacolon10.4PAX6, SOX2
7hypopituitarism10.3
8retinitis10.2
9septooptic dysplasia10.1
10renal, genital, and middle ear anomalies10.1HESX1, PAX6, SOX2
11diabetes insipidus10.1
12chromosome 17p13.3 duplication syndrome10.0PAFAH1B1, TUBA8
13fetal alcohol syndrome10.0
14growth hormone deficiency10.0
15combined oxidative phosphorylation deficiency10.0ATOH7, PAX6
16microcephaly and chorioretinopathy, autosomal recessive, 310.0
17bornholm eye disease10.0
18obesity9.9
19amblyopia9.9
20microphthalmia9.9
21arachnoiditis9.9
22hypothyroidism9.9
23arachnoid cysts9.9
24dfnx1 nonsyndromic hearing loss and deafness9.8DCX, PAFAH1B1
25mitochondrial complex i deficiency9.8
26donnai-barrow syndrome9.8
27hemifacial microsomia9.8
28cataract9.8
29hemangioma9.8
30hepatitis9.8
31hydrocephalus9.8
32male infertility9.8
33retinitis pigmentosa9.8
34lissencephaly9.8
35autism spectrum disorder9.8
36myelomeningocele9.8
37blepharophimosis9.8
38open-angle glaucoma9.8
39astigmatism9.8
40myopia9.8
41duane retraction syndrome9.8
42foster-kennedy syndrome9.8
43epilepsy9.8
44teratoma9.8
45cerebritis9.8
46lactic acidosis9.8
47infertility9.8
48strabismus9.8
49leber hereditary optic neuropathy9.8
50thyroiditis9.8

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 visual impairment HP:0000505
2 optic nerve hypoplasia HP:0000609
3 reduced visual acuity HP:0007663
4 optic nerve aplasia HP:0012521
5 abnormality of the optic disc HP:0012795

Drugs & Therapeutics for Optic Nerve Hypoplasia

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Drugs for Optic Nerve Hypoplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MelatoninNutraceuticalPhase 024573-31-4896
Synonyms:
0E2B08C1-B325-45B1-8939-6F9081EFDFA4
4-ACETAMIDO-4'-ISOTHIO-CYANATOSTILBENE-2,2'-DISULFONIC ACID
5-22-12-00042 (Beilstein Handbook Reference)
5-Methoxy-N-acetyltryptamine
5-methoxy-N-acetyltryptamine
73-31-4
A4039/0172195
AB00053279
AC1L1A9Q
AC1Q4F1W
AC1Q4F1X
AKOS000276269
Acetamide, N-(2-(5-methoxy-1H-indol-3-yl)ethyl)- (9CI)
Acetamide, N-[2-(5-methoxy-1H-indol-3-yl)ethyl]- (9CI)
Acetamide, N-[2-(5-methoxyindol-3-yl)ethyl]- (6CI,8CI)
Acetamide, {N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-}
Acetamide, {N-[2-(5-methoxyindol-3-yl)ethyl]-}
BAS 01281092
BIDD:ER0618
BPBio1_000590
BRD-K97530723-001-07-6
BRN 0205542
BSPBio_000536
BSPBio_003006
Bio-0635
C01598
CAS-73-31-4
CCRIS 3472
CHEBI:16796
CHEMBL45
CID896
ChemDiv2_003916
Circadin
D008550
D08170
DB01065
DB08189
DivK1c_000353
EINECS 200-797-7
EU-0100787
HMS1380B22
HMS1569K18
HMS1921E04
HMS2089F09
HMS501B15
HSCI1_000400
HSDB 7509
I05-0076
I10-0345
IDI1_000353
IDI1_002631
IN1244
KBio1_000353
KBio2_000665
KBio2_003233
KBio2_005801
KBio3_002226
KBioGR_000591
KBioSS_000665
L001261
LS-1623
Lopac-M-5250
Lopac0_000787
M 5250
M-1200
M-1250
M1105
M5250_SIGMA
ML1
MLS000859594
MLS001055382
MLS001240204
MT6
Mela-T
Melapure
Melatol
Melatonex
Melatonex, Melatonin
Melatonin
Melatonin (synth.) standard-grade
 
Melatonin (synth.) ultra-pure
Melatonina
Melatonina (TN)
Melatonine
Melovine
MolPort-000-737-883
N-(2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)-Acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)acetamide
N-Acetyl-5-methoxy-tryptamine
N-Acetyl-5-methoxy-tryptamine Melatonine
N-Acetyl-5-methoxytryptamine
N-[2-(5-Methoxy-1H-indol-3-yl)-ethyl]-acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]acetamide
N-[2-(5-methoxyindol-3-yl)ethyl]acetamide
N-acetyl-5-methoxy-tryptamine
NCGC00015680-01
NCGC00015680-02
NCGC00015680-03
NCGC00015680-06
NCGC00015680-13
NCGC00090727-01
NCGC00090727-02
NCGC00090727-03
NCGC00090727-04
NCGC00090727-05
NCGC00090727-06
NCGC00090727-07
NCGC00090727-08
NCGC00090727-09
NCI60_004378
NINDS_000353
NMR/14327425
NSC 113928
NSC113928
NSC56423
Nature'S Harmony
Night Rest
Oprea1_104553
Oprea1_814234
PREVENTION 1 (MELATONIN) (PREVENTION 1)
PREVENTION 2 (MELATONIN)
PREVENTION 3 (MELATONIN)
PREVENTION 4 (MELATONIN)
PREVENTION 5 (MELATONIN)
Pineal Hormone
Posidorm
Prestwick0_000458
Prestwick1_000458
Prestwick2_000458
Prestwick3_000458
Prestwick_312
Regulin
Revital Melatonin
Rx Balance
S1204_Selleck
SDCCGMLS-0065812.P001
SDCCGMLS-0065812.P002
SMP2_000309
SMR000326666
SPBio_001527
SPBio_002475
SPECTRUM1500690
STK386880
Sleep Right
Spectrum2_001344
Spectrum3_001393
Spectrum4_000066
Spectrum5_001745
Spectrum_000185
TNP00300
UNII-JL5DK93RCL
Vivitas
WLN: T56 BMJ D2MV1 GO1
ZINC00057060
{N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-} Acetamide
{N-[2-(5-methoxyindol-3-yl)ethyl]-} Acetamide

Interventional clinical trials:

idNameStatusNCT IDPhase
1Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve HypoplasiaCompletedNCT00140413Phase 4
2Spectral Domain Optical Coherence Tomography Imaging of the Eyes of NeonatesCompletedNCT01404247Phase 1
3Biological Clock Dysfunction in Optic Nerve HypoplasiaRecruitingNCT00825591Phase 0
4A More Engaging Visual Field Test to Increase Use and Reliability in PediatricsRecruitingNCT02157025
5A Pilot Study to Evaluate the Safety and Efficacy of the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep ApneaRecruitingNCT02344108
6Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224

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, Bilateral25
2 Optic Nerve Hypoplasia25 23 PAX6

Anatomical Context for Optic Nerve Hypoplasia

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MalaCards organs/tissues related to Optic Nerve Hypoplasia:

34
Pituitary, Brain, Retina, Eye, Testes, Thyroid, Occipital lobe

Animal Models for Optic Nerve Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Optic Nerve Hypoplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.8HESX1, PAX6, SOX2
2MP:00053918.3ATOH7, HESX1, NDUFS4, PAX6, SOX2
3MP:00036316.7ATOH7, DCX, HESX1, NDUFS4, PAFAH1B1, PAX6

Publications for Optic Nerve Hypoplasia

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Articles related to Optic Nerve Hypoplasia:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia. (27014380)
2016
2
The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines. (27426898)
2016
3
Clinical and demographic associations with optic nerve hypoplasia in New Zealand. (24825844)
2014
4
Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia. (23972277)
2014
5
Optical coherence tomographic findings in optic nerve hypoplasia. (24212314)
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
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. (22153411)
2011
9
Bilateral Microphthalmia with Optic Nerve Hypoplasia and Achiasmia. (20337361)
2010
10
Prevalence of superior segmental optic nerve hypoplasia in Korea. (19484440)
2009
11
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. (19896110)
2009
12
Superior segmental optic nerve hypoplasia in youth. (19089568)
2008
13
The syndrome of optic nerve hypoplasia. (18713575)
2008
14
Neuroradiographic, endocrinologic, and ophthalmic correlates of adverse developmental outcomes in children with optic nerve hypoplasia: a prospective study. (18250116)
2008
15
Optic nerve hypoplasia and growth hormone deficiency in a cholestatic infant. (16638511)
2006
16
Endocrinological and auxological abnormalities in young children with optic nerve hypoplasia: a prospective study. (16423602)
2006
17
Achiasmia and unilateral optic nerve hypoplasia in an otherwise healthy infant. (16445455)
2006
18
Association of optic nerve hypoplasia with mitochondrial cytopathies. (17092461)
2006
19
Hypopituitarism and neurodevelopmental abnormalities in relation to central nervous system structural defects in children with optic nerve hypoplasia. (16279362)
2005
20
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. (12874108)
2003
21
Septo-optic dysplasia/optic nerve hypoplasia: data from the National Cooperative Growth Study (NCGS). (12092683)
2002
22
The clinical and morphologic spectrum of optic nerve hypoplasia. (10477223)
1999
23
Optic nerve hypoplasia with isolated tortuosity of the retinal veins: a marker of endocrinopathy. (10408451)
1999
24
A histopathologic and morphometric differentiation of nerves in optic nerve hypoplasia and Leber hereditary optic neuropathy. (9682705)
1998
25
Netrin-1 and DCC mediate axon guidance locally at the optic disc: loss of function leads to optic nerve hypoplasia. (9331350)
1997
26
Optic nerve hypoplasia in fetal alcohol syndrome: an update. (9352281)
1997
27
Optic nerve hypoplasia secondary to intracranial teratoma. (9372735)
1997
28
Optic nerve hypoplasia in an acute exposure model of the fetal alcohol syndrome. (8052190)
1994
29
Electrophysiologic alterations in patients with optic nerve hypoplasia. (7813376)
1994
30
Optic nerve hypoplasia. Clinical significance of associated central nervous system abnormalities on magnetic resonance imaging. (8424727)
1993
31
Big discs with optic nerve hypoplasia. (1832688)
1991
32
Reappraisal of the ratio of disc to macula/disc diameter in optic nerve hypoplasia. (1911656)
1991
33
Unilateral optic nerve hypoplasia and hydrocephalus in a Pekingese. (1879143)
1991
34
Optic nerve hypoplasia: associations and management. (2301970)
1990
35
Optic nerve hypoplasia in children. (2191713)
1990
36
Optic disc photogrammetry: magnification factors for eye position, centration, and ametropias, refractive and axial; and their application in the diagnosis of optic nerve hypoplasia. (2627096)
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
A simple clinical method of assessing patients with optic nerve hypoplasia. The disc-macula distance to disc diameter ratio (DM/DD). (3425270)
1987
40
Optic nerve hypoplasia: one part of a spectrum. (3598125)
1986
41
Optic nerve hypoplasia in infants of diabetic mothers. (3778270)
1986
42
Maternal age and congenital optic nerve hypoplasia: a possible clue to etiology. (3721071)
1986
43
Congenital optic nerve hypoplasia with hypothalamic-pituitary dysplasia. A review of 16 cases. (3976626)
1985
44
Optic nerve hypoplasia and visual function (a quantitative correlation). (6663376)
1983
45
Optic nerve hypoplasia and young maternal age. (7386570)
1980
46
Spectrum of optic nerve hypoplasia. (629914)
1978
47
Bilateral optic nerve hypoplasia in a pup. (1245453)
1976
48
Optic nerve hypoplasia with hypopituitarism. Septo-optic dysplasia with hypopituitarism. (1119454)
1975
49
Visual field defects in optic nerve hypoplasia. (5032697)
1972
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:

68
id Symbol AA change Variation ID SNP ID
1PAX6p.Ser292IleVAR_017543
2PAX6p.Met381ValVAR_017546
3PAX6p.Thr391AlaVAR_017547rs121907926

Clinvar genetic disease variations for Optic Nerve Hypoplasia:

5
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 Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8PAX6, SOX2
29.5HESX1, PAX6, SOX2
39.1DCX, PAFAH1B1

GO Terms for genes affiliated with Optic Nerve Hypoplasia

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Cellular components related to Optic Nerve Hypoplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule associated complexGO:00058759.5DCX, PAFAH1B1
2microtubuleGO:00058749.2DCX, TUBA8, TUBGCP4

Biological processes related to Optic Nerve Hypoplasia according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1pituitary gland developmentGO:002198310.2PAX6, SOX2
2eye developmentGO:000165410.2PAX6, SOX2
3negative regulation of neuron differentiationGO:004566510.1PAX6, SOX2
4negative regulation of epithelial cell proliferationGO:005068010.0PAX6, SOX2
5establishment of mitotic spindle orientationGO:00001329.8PAFAH1B1, PAX6
6microtubule-based processGO:00070179.7PAFAH1B1, TUBA8
7layer formation in cerebral cortexGO:00218199.5DCX, PAFAH1B1
8hippocampus developmentGO:00217669.1DCX, PAFAH1B1
9neuron migrationGO:00017648.8DCX, PAFAH1B1, PAX6
10brain developmentGO:00074207.7DCX, HESX1, NDUFS4, PAFAH1B1, PAX6

Sources for Optic Nerve Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet