MCID: OPT037
MIFTS: 47

Optic Nerve Hypoplasia malady

Categories: Genetic diseases (common), Eye diseases, Neuronal diseases

Aliases & Classifications for Optic Nerve Hypoplasia

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Aliases & Descriptions for Optic Nerve Hypoplasia:

Name: Optic Nerve Hypoplasia 49 11
Bilateral Optic Nerve Hypoplasia 67 24
Optic Nerve Hypoplasia, Bilateral 65
 
Optic Nerve Aplasia, Bilateral 65
Bilateral Optic Nerve Aplasia 67
Bonh 67

Characteristics:

HPO:

61
optic nerve hypoplasia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 165550
MeSH36 D000013
UMLS65 C1833797, C1833798

Summaries for Optic Nerve Hypoplasia

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UniProtKB/Swiss-Prot:67 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 abnormality of the optic disc, optic nerve aplasia and reduced visual acuity. An important gene associated with Optic Nerve Hypoplasia is PAX6 (Paired Box 6), and among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. Affiliated tissues include pituitary, brain and retina, and related mouse phenotypes are taste/olfaction and respiratory system.

Wikipedia:68 Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic... more...

Description from OMIM:49 165550

Related Diseases for Optic Nerve Hypoplasia

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

Drugs & Therapeutics for Optic Nerve Hypoplasia

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1HormonesPhase 411748
2Pharmaceutical SolutionsPhase 17004
3Ophthalmic SolutionsPhase 11006
4
Melatoninapproved, nutraceuticalPhase 023473-31-4896
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
5Liver Extracts3572
6Protective AgentsPhase 05651
7AntioxidantsPhase 02442
8Central Nervous System DepressantsPhase 010016

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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Anatomical Context for Optic Nerve Hypoplasia

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MalaCards organs/tissues related to Optic Nerve Hypoplasia:

33
Pituitary, Brain, Retina, Eye, Liver, Breast, Testes

Animal Models for Optic Nerve Hypoplasia or affiliated genes

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MGI Mouse Phenotypes related to Optic Nerve Hypoplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.3HESX1, PAX6, SOX2
2MP:00053888.3HESX1, NDUFS4, PAX6, SOX2
3MP:00053918.1ATOH7, HESX1, NDUFS4, PAX6, SOX2
4MP:00028738.0ATOH7, HESX1, NDUFS4, PAX6, SOX2

Publications for Optic Nerve Hypoplasia

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Articles related to Optic Nerve Hypoplasia:

(show top 50)    (show all 199)
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
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
Netrin-1 and DCC mediate axon guidance locally at the optic disc: loss of function leads to optic nerve hypoplasia. (9331350)
1997
30
Optic nerve hypoplasia in fetal alcohol syndrome: an update. (9352281)
1997
31
Optic nerve hypoplasia: absence of posterior pituitary bright signal on magnetic resonance imaging correlates with diabetes insipidus. (8909213)
1996
32
Optic nerve hypoplasia in the fetal alcohol syndrome: a mouse model. (7649829)
1995
33
Optic nerve hypoplasia and angle dysgenesis in a patient with blepharophimosis syndrome. (8172282)
1994
34
Big discs with optic nerve hypoplasia. (1832688)
1991
35
Response to growth hormone-releasing hormone as evidence of hypothalamic defect in optic nerve hypoplasia. (2545075)
1989
36
The disc-macula distance to disc diameter ratio: a new test for confirming optic nerve hypoplasia in young children. (3397860)
1988
37
Localising patterns of optic nerve hypoplasia--retina to occipital lobe. (3355804)
1988
38
Optic nerve hypoplasia. (3819295)
1987
39
Optic nerve hypoplasia. (3310293)
1987
40
Optic nerve hypoplasia: a review. (3298397)
1986
41
Optic nerve hypoplasia: changing perspectives. (3545264)
1986
42
Optic nerve hypoplasia: papillary diameter and clinical correlation. (2934428)
1985
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
Duane's retraction syndrome associated with optic nerve hypoplasia. (7365645)
1980
46
Optic nerve hypoplasia in chondrodysplasia punctata. (915643)
1977
47
Bilateral optic nerve hypoplasia in a pup. (1245453)
1976
48
Optic nerve hypoplasia. (799278)
1976
49
Bilateral optic nerve hypoplasia in a colt. (5816066)
1969
50

Variations for Optic Nerve Hypoplasia

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

67
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:

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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GO Terms for genes affiliated with Optic Nerve Hypoplasia

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

idNameGO IDScoreTop Affiliating Genes
1regulation of gene expressionGO:00104689.7PAX6, SOX2
2negative regulation of neuron differentiationGO:00456659.7PAX6, SOX2
3eye developmentGO:00016549.6PAX6, SOX2

Sources for Optic Nerve Hypoplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet