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 polymicrogyria with optic nerve hypoplasia and optic nerve hypoplasia, familial bilateral, 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 brain, pituitary 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
Brain, Pituitary, 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 193)
idTitleAuthorsYear
1
Sphingolipids in Congenital Diaphragmatic Hernia; Results from an International Multicenter Study. (27159222)
2016
2
Case report: drug-induced gingival overgrowth associated with the use of a calcium channel blocker (amlodipine). (26665904)
2015
3
Successful laparoscopic common bile duct exploration in a patient with factor V deficiency, a case report and review of literature. (26550406)
2015
4
A rare case of neck pain: acute longus colli calcific tendinitis in a possibly immunocompromised individual. (25567835)
2015
5
Abnormal liver function tests in the third trimester: a diagnostic dilemma. Acute fatty liver of pregnancy. (24560856)
2014
6
Patients with Helicobacter pylori negative gastric marginal zone b-cell lymphoma (MZBCL) of MALT have a good prognosis. (25474277)
2014
7
Obstructive hydrocephalus caused by giant basilar artery aneurysm. (23545619)
2013
8
Regional treatment with liquid barrier agents: a novel therapeutic option for intraperitoneal endometriosis? (23517566)
2013
9
Surgical staple as a transcutaneous transducer for ECG electrodes in burnt skin: safe surgical monitoring in major burns. (23010087)
2013
10
Serum anti-Mullerian hormone (AMH) levels correlate with infrarenal aortic diameter in healthy older men: is AMH a cardiovascular hormone? (23847299)
2013
11
The TP53 gene polymorphisms and survival of sporadic breast cancer patients. (21365326)
2012
12
Genetic transformation of the relapsing fever spirochete Borrelia hermsii: stable integration and expression of green fluorescent protein from linear plasmid 200. (21551306)
2011
13
Adenoid cystic carcinoma intermingled with ductal carcinoma of the breast: a case report and review of the literature. (21896177)
2011
14
Duodenal metastasis of alveolar soft part sarcoma. (22191294)
2011
15
A role for the transcription factor Helios in human CD4(+)CD25(+) regulatory T cells. (20226531)
2010
16
Complementation of diverse HIV-1 Env defects through cooperative subunit interactions: a general property of the functional trimer. (19671162)
2009
17
The endogenous anti-angiogenic VEGF isoform, VEGF165b inhibits human tumour growth in mice. (18349828)
2008
18
Borna disease virus: evidence of naturally-occurring infection in cats in Australia. (18771098)
2008
19
Inhibitors of aldose reductase and advanced glycation end-products formation from the leaves of Stelechocarpus cauliflorus R.E. Fr. (17084603)
2007
20
Receptor interacting protein 140 regulates expression of uncoupling protein 1 in adipocytes through specific peroxisome proliferator activated receptor isoforms and estrogen-related receptor alpha. (17456798)
2007
21
Chemoresistant KM12C colon cancer cells are addicted to low cyclic AMP levels in a phosphodiesterase 4-regulated compartment via effects on phosphoinositide 3-kinase. (17545604)
2007
22
A capillary hemostasis mechanism regulated by sympathetic tone and activity via factor VIII or von Willebrand's factor may function as a "capillary gate" and may explain angiodysplasia, angioneurotic edema, and variations in systemic vascular resistance. (16338094)
2006
23
Laparoscopic approach for solitary insulinoma: a multicentre study. (15609056)
2005
24
Cutaneous vasculitis with undetectable cryoglobulinemia in chronic hepatitis C. (15377307)
2004
25
A quantitative assessment of depression and thyroid dysfunction secondary to interferon-alpha therapy in patients with hepatitis C. (15505982)
2004
26
Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia. (15176428)
2004
27
Secretory Zn2+-dependent sphingomyelinase activity in the serum of patients with type 2 diabetes is elevated. (12953170)
2003
28
Placental site trophoblastic tumor (PSTT) in mother and child: first report of PSTT in infancy. (11836719)
2002
29
Grit, a GTPase-activating protein for the Rho family, regulates neurite extension through association with the TrkA receptor and N-Shc and CrkL/Crk adapter molecules. (12446789)
2002
30
Molecular Epidemiology of Group A Rotavirus Causing Acute Diarrhea in Infants and Young Children in Rio de Janeiro, Brazil, 1997-1998. (11096435)
1999
31
Structure-based functional motif identifies a potential disulfide oxidoreductase active site in the serine/threonine protein phosphatase-1 subfamily. (10506591)
1999
32
Mutations in human ARF exon 2 disrupt its nucleolar localization and impair its ability to block nuclear export of MDM2 and p53. (10360174)
1999
33
Expression and physical association of Fc alpha receptor and Fc receptor gamma chain in human mesangial cells. (10344348)
1999
34
Mycobacterium abscessus peritonitis: a case report. (10182108)
1998
35
A metastatic breast tumor cell line, GI-101A, is estrogen receptor positive and responsive to estrogen but resistant to tamoxifen. (10328849)
1998
36
Evaluation of severe hypospadias. (9672540)
1998
37
Clinical outcomes in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. (9427908)
1997
38
Human cytochrome P450 2E1 (CYP2E1): from genotype to phenotype. (8807659)
1996
39
Expression and molecular analysis of mutations in prolidase deficiency. (8900231)
1996
40
Intestinal distribution of human Na+/H+ exchanger isoforms NHE-1, NHE-2, and NHE-3 mRNA. (8843774)
1996
41
Unliganded thyroid hormone receptor alpha can target TATA-binding protein for transcriptional repression. (8524305)
1996
42
Small cell osteosarcoma of bone: an immunohistochemical study with differential diagnostic considerations. (7503935)
1993
43
Determination of the affinity of vitamin D metabolites to serum vitamin D binding protein using assay employing lipid-coated polystyrene beads. (1667458)
1991
44
Unusual echocardiographic appearance of intracardiac thrombi in a patient with endomyocardial fibrosis. (3730220)
1986
45
Effects of expiratory positive airway pressure on sleep-induced respiratory abnormalities in patients with hypersomnia-sleep apnea syndrome. (6354028)
1983
46
Partial KlA1ver-Bucy Syndrome following probably herpes simplex encephalitis. (91669)
1979
47
Spontaneous rupture of the esophagus: the Boerhaave syndrome. (970762)
1976
48
Case of Vesico-urethral Calculus. (19983442)
1923
49
Short Notes and Clinical Cases: THREE CASES OF MANGANESE POISONING. (21611500)
1922
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