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BONH
MCID: OPT070
MIFTS: 56

Optic Nerve Hypoplasia, Bilateral (BONH)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Optic Nerve Hypoplasia, Bilateral

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MalaCards integrated aliases for Optic Nerve Hypoplasia, Bilateral:

Name: Optic Nerve Hypoplasia, Bilateral 56 29 6 71
Optic Nerve Hypoplasia 56 36 29 13 6 43
Bilateral Optic Nerve Hypoplasia 12 73 15
Optic Nerve Hypoplasia, Familial Bilateral 74 52
Familial Bilateral Optic Nerve Hypoplasia 12 52
Isolated Optic Nerve Hypoplasia/aplasia 12 58
Optic Nerve Aplasia, Bilateral 6 71
Hypoplasia, Optic Nerve, Bilateral 39
Bilateral Optic Nerve Aplasia 73
Bonh 73
Onh 12

Characteristics:

Orphanet epidemiological data:

58
isolated optic nerve hypoplasia/aplasia
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
optic nerve hypoplasia, bilateral:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111531
OMIM 56 165550
KEGG 36 H02203
ICD9CM 34 377.43
NCIt 49 C98999
SNOMED-CT 67 95499004
ICD10 32 H47.03
ICD10 via Orphanet 33 H47.0
UMLS via Orphanet 72 C0338502
Orphanet 58 ORPHA137902
UMLS 71 C0338502 C1833797 C1833798
Sources

Summaries for Optic Nerve Hypoplasia, Bilateral

About this section
KEGG : 36 Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. ONH may occur as an isolated defect or in association with other ocular abnormalities, cranial abnormalities, or facial anomalies. Most of cases are sporadic, but autosomal dominant ONH have been identified. It is caused by mutations in PAX6 gene that encodes the transcription factor.

MalaCards based summary : Optic Nerve Hypoplasia, Bilateral, also known as optic nerve hypoplasia, is related to septooptic dysplasia and aniridia 1. An important gene associated with Optic Nerve Hypoplasia, Bilateral is PAX6 (Paired Box 6), and among its related pathways/superpathways are Signaling pathways regulating pluripotency of stem cells and Transcriptional Regulatory Network in Embryonic Stem Cell. The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and eye, and related phenotypes are optic nerve hypoplasia and optic disc hypoplasia

Disease Ontology : 12 An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has material basis in heterozygous mutation in PAX6 on chromosome 11p13.

UniProtKB/Swiss-Prot : 73 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.

Wikipedia : 74 Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic... more...

More information from OMIM: 165550
Sources

Related Diseases for Optic Nerve Hypoplasia, Bilateral

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

(show top 50) (show all 226)
# Related Disease Score Top Affiliating Genes
1 septooptic dysplasia 33.7 PAX6 OTX2 HESX1 ESX1
2 aniridia 1 33.1 VSX2 PAX6 OTX2 MYOC ELP4
3 aniridia 2 33.0 PAX6 ELP4
4 hypopituitarism 31.6 PAX6 OTX2 HESX1
5 pathologic nystagmus 31.4 RPE65 RHO PAX6
6 strabismus 31.2 TMCO1 SOX5 RHO PAX6
7 yemenite deaf-blind hypopigmentation syndrome 31.1 RPE65 RHO
8 ocular hypertension 31.0 TMCO1 RHO RBPMS POU4F1 MYOC
9 pituitary hormone deficiency, combined, 2 31.0 OTX2 HESX1 ESX1
10 coloboma of macula 31.0 VSX2 PAX6 OTX2 HESX1 ESX1
11 fryns microphthalmia syndrome 30.9 VSX2 PAX6 OTX2 HESX1
12 isolated growth hormone deficiency 30.9 PAX6 OTX2 HESX1 ESX1
13 intraocular pressure quantitative trait locus 30.9 TMCO1 POU4F1 PAX6 MYOC
14 anterior segment dysgenesis 30.8 PAX6 MYOC COL4A1
15 glaucoma, primary open angle 30.7 TMCO1 RHO MYOC ATOH7
16 microphthalmia 30.6 VSX2 PAX6 OTX2 HESX1 ELP4 COL4A1
17 optic nerve disease 30.6 RBPMS POU4F2 POU4F1 NEFL MYOC
18 persistent hyperplastic primary vitreous 30.6 VSX2 PAX6 OTX2 ATOH7
19 open-angle glaucoma 30.5 TMCO1 MYOC ATOH7
20 cataract 30.4 VSX2 RHO PAX6 OTX2 ELP4 COL4A1
21 retinal disease 30.4 RPE65 RHO PAX6 MYOC
22 retinitis pigmentosa 30.0 VSX2 RPE65 RHO POU4F2 POU4F1 PAX6
23 syndromic optic nerve hypoplasia 12.4
24 cortical dysplasia, complex, with other brain malformations 8 12.4
25 microphthalmia, syndromic 3 11.7
26 aniridia and absent patella 11.2
27 gillespie syndrome 11.2
28 kaufman oculocerebrofacial syndrome 11.2
29 bornholm eye disease 11.2
30 congenital disorder of glycosylation, type iq 11.2
31 cortical dysplasia, complex, with other brain malformations 1 11.2
32 microcephaly and chorioretinopathy, autosomal recessive, 3 11.2
33 aniridia 3 11.2
34 cask-related intellectual disability 11.2
35 thrombophlebitis migrans 10.6 POU4F2 POU4F1
36 combined pituitary hormone deficiencies, genetic forms 10.6 OTX2 HESX1
37 congenital aphakia 10.6 VSX2 PAX6
38 microphthalmia, isolated 3 10.6 VSX2 PAX6 OTX2
39 ischemic neuropathy 10.6 POU4F2 POU4F1
40 pattern dystrophy 10.6 RHO OTX2
41 syndromic microphthalmia 10.5 VSX2 PAX6 OTX2
42 spastic ataxia 8 10.5 PAX6 OTX2
43 glaucoma 3, primary congenital, a 10.5 PAX6 MYOC COL4A1
44 macular degeneration, age-related, 7 10.5 RPE65 PAX6 OTX2
45 acute closed-angle glaucoma 10.5 POU4F1 MYOC
46 glaucoma-related pigment dispersion syndrome 10.5 TMCO1 MYOC GPNMB
47 isolated growth hormone deficiency type iii 10.5 HESX1 ESX1
48 colobomatous microphthalmia 10.5 VSX2 PAX6 OTX2 HESX1
49 isolated microphthalmia 10.5 VSX2 OTX2
50 gyrate atrophy of choroid and retina 10.5 VSX2 RPE65 RHO

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



Diseases related to Optic Nerve Hypoplasia, Bilateral
Sources

Symptoms & Phenotypes for Optic Nerve Hypoplasia, Bilateral

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Human phenotypes related to Optic Nerve Hypoplasia, Bilateral:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic nerve hypoplasia 58 31 obligate (100%) Obligate (100%) HP:0000609
2 optic disc hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007766
3 pseudopapilledema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000538
4 abnormal best corrected visual acuity test 58 31 hallmark (90%) Very frequent (99-80%) HP:0030534
5 eeg abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0002353
6 chorioretinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000567
7 peripheral vitreous opacities 58 31 frequent (33%) Frequent (79-30%) HP:0007710
8 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
9 growth delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001510
10 neurodevelopmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0012758
11 vesicoureteral reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0000076
12 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
13 aplasia/hypoplasia of the iris 58 31 occasional (7.5%) Occasional (29-5%) HP:0008053
14 unilateral microphthalmos 58 31 occasional (7.5%) Occasional (29-5%) HP:0011480
15 abnormal involuntary eye movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0012547
16 reduced visual acuity 58 31 Very frequent (99-80%) HP:0007663
17 visual impairment 31 HP:0000505
18 abnormality of the optic disc 31 HP:0012795
19 optic nerve aplasia 31 HP:0012521

Symptoms via clinical synopsis from OMIM:

56
Eyes:
optic nerve hypoplasia
poor visual acuity
small discs
concentric peripapillary halos
wandering eye movements

Clinical features from OMIM:

165550

MGI Mouse Phenotypes related to Optic Nerve Hypoplasia, Bilateral:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.1 ATOH7 COL4A1 GPNMB HERC2 HESX1 NEFL
2 behavior/neurological MP:0005386 10.06 ATOH7 COL4A1 GPNMB HERC2 NEFL OTX2
3 normal MP:0002873 9.81 ATOH7 HESX1 MYOC NEFL OTX2 PAX6
4 pigmentation MP:0001186 9.5 GPNMB OTX2 PAX6 RHO RPE65 TMEM98
5 vision/eye MP:0005391 9.44 ATOH7 COL4A1 GPNMB HESX1 MYOC OTX2
Sources

Drugs & Therapeutics for Optic Nerve Hypoplasia, Bilateral

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4
2 Pharmaceutical Solutions Phase 1
3 Ophthalmic Solutions Phase 1
4
Melatonin Approved, Nutraceutical, Vet_approved Early Phase 1 73-31-4 896
5 Antioxidants Early Phase 1
6 Protective Agents Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
2 Spectral Domain Optical Coherence Tomography Imaging of the Eyes of Neonates Completed NCT01404247 Phase 1
3 Identification and Treatment of Biological Clock Dysfunction in Optic Nerve Hypoplasia Unknown status NCT00825591 Early Phase 1

Search NIH Clinical Center for Optic Nerve Hypoplasia, Bilateral

Cochrane evidence based reviews: optic nerve hypoplasia

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Genetic Tests for Optic Nerve Hypoplasia, Bilateral

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Genetic tests related to Optic Nerve Hypoplasia, Bilateral:

# Genetic test Affiliating Genes
1 Optic Nerve Hypoplasia, Bilateral 29 PAX6
2 Optic Nerve Hypoplasia 29
Sources

Anatomical Context for Optic Nerve Hypoplasia, Bilateral

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MalaCards organs/tissues related to Optic Nerve Hypoplasia, Bilateral:

40
Pituitary, Brain, Eye, Retina, Testes, Skin, Thyroid
Sources

Publications for Optic Nerve Hypoplasia, Bilateral

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Articles related to Optic Nerve Hypoplasia, Bilateral:

(show top 50) (show all 636)
# Title Authors PMID Year
1
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 61 6 56
12721955 2003
2
Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging. 56 61
14602762 2003
3
Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum. 61 56
10048603 1999
4
Familial bilateral optic nerve hypoplasia. 56 61
1115199 1975
5
Sudden death in septo-optic dysplasia. Report of 5 cases. 56
9006427 1997
6
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways. 61
32305418 2020
7
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 61
32275123 2020
8
The Molecular Basis of Congenital Hypopituitarism and Related Disorders. 61
31702014 2020
9
Septo-optic dysplasia with fovea plana: A case report. 61
32530711 2020
10
Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy. 61
32522703 2020
11
Ophthalmologic Findings in Fetal Alcohol Spectrum Disorders - A Cohort Study From Childhood to Adulthood. 61
31926885 2020
12
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. 61
32424177 2020
13
Long-term postnatal outcomes of fetuses with prenatally suspected septo-optic dysplasia. 61
32196785 2020
14
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism. 61
31769495 2020
15
Fetal Ultrasound and Magnetic Resonance Imaging Findings in Suspected Septo-Optic Dysplasia: A Diagnostic Dilemma. 61
32118312 2020
16
Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders. 61
32140665 2020
17
Orbital MRI versus fundus photography in the diagnosis of optic nerve hypoplasia and prediction of vision. 61
32024653 2020
18
Squalene Synthase Deficiency 61
32027475 2020
19
Direct OPTOS Nerve Size Determination of Prevalent Optic Nerve Hypoplasia in Alaska. 61
32109985 2020
20
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. 61
32040484 2020
21
Optic nerve hypoplasia in miniature poodle dogs: A preliminary genetic and candidate gene association study. 61
31342635 2020
22
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. 61
31696227 2020
23
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. 61
30541351 2020
24
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. 61
31729143 2020
25
Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic. 61
31811804 2020
26
Septo-optic dysplasia with amniotic band syndrome sequence: a case report. 61
31839004 2019
27
Optic Nerve Hypoplasia in the Eye and Beyond. 61
31725842 2019
28
Relationship between refractive correction, visual symptoms, and optical device selection for low-vision patients in Taiwan. 61
31787520 2019
29
FEVR phenotype associated with septo-optic dysplasia. 61
31755341 2019
30
Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a NovelCOL4A1 Mutation. 61
31966034 2019
31
High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia. 61
30740788 2019
32
Septo-optic Dysplasia : Assessment of Associated Findings with Special Attention to the Olfactory Sulci and Tracts. 61
29663010 2019
33
AN UNEXPECTED COMBINATION OF PROLACTINOMA AND SEPTO-OPTIC DYSPLASIA. 61
31967053 2019
34
Non-Cell Autonomous Roles for CASK in Optic Nerve Hypoplasia. 61
31425583 2019
35
Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity. 61
30549247 2019
36
Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma. 61
30585077 2019
37
Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency. 61
31059822 2019
38
Pediatric optic nerve and optic nerve sheath diameter on magnetic resonance imaging. 61
31049608 2019
39
A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations. 61
31207931 2019
40
Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report. 61
31234783 2019
41
Smartphone-Based, Rapid, Wide-Field Fundus Photography for Diagnosis of Pediatric Retinal Diseases. 61
31171996 2019
42
Amelanotic Ciliochoroidal Melanoma in a Patient with Oculocutaneous Albinism. 61
31049325 2019
43
Causes of childhood low vision and blindness in New Zealand. 61
30430722 2019
44
Requirement of the Mowat-Wilson Syndrome Gene Zeb2 in the Differentiation and Maintenance of Non-photoreceptor Cell Types During Retinal Development. 61
29922981 2019
45
Optical Coherence Tomography Angiography Findings in Superior Segmental Optic Nerve Hypoplasia. 61
30289793 2019
46
Hypernatremia in a Sleepy 2-Month-Old With Mention of Abnormal Eye Movements. 61
30870334 2019
47
Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives. 61
31695544 2019
48
Prospective observational study of universal newborn eye screening in a hospital and community setting in New Zealand. 61
30815584 2019
49
Optic Nerve Hypoplasia: A Retrospective Analysis of Clinical Presentation and Disease Severity. 61
31920284 2019
50
Prevalence of the optic disc anomalies in the adult South Indian population. 61
29567792 2019
Sources

Variations for Optic Nerve Hypoplasia, Bilateral

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ClinVar genetic disease variations for Optic Nerve Hypoplasia, Bilateral:

6 (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COL4A1 NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)SNV Pathogenic 496641 rs1555303073 13:110829259-110829259 13:110176912-110176912
2 SOX5 deletion Pathogenic 496727 12:23432684-23773692 12:23279750-23620758
3 PAX6 NM_000280.4(PAX6):c.613C>T (p.Gln205Ter)SNV Pathogenic 3476 rs121907924 11:31816247-31816247 11:31794699-31794699
4 PAX6 NM_001368911.1(PAX6):c.1078-703A>GSNV Pathogenic 3478 rs121907926 11:31812270-31812270 11:31790722-31790722
5 ATOH7 NM_145178.4(ATOH7):c.176C>T (p.Ala59Val)SNV Pathogenic 812673 10:69991259-69991259 10:68231502-68231502
6 ATOH7 NM_145178.4(ATOH7):c.175G>A (p.Ala59Thr)SNV Pathogenic 812672 10:69991260-69991260 10:68231503-68231503
7 46;X;t(X;5)(p11.23;q35)dnTranslocation Pathogenic 267815
8 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter)SNV Pathogenic 279862 rs886041222 11:31815335-31815335 11:31793787-31793787
9 HERC2 NM_004667.5(HERC2):c.6976del (p.Ile2325_Leu2326insTer)deletion Pathogenic 374155 rs1057518934 15:28456241-28456241 15:28211095-28211095
10 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
11 PAX6 NM_000280.4:c.1267A>TSNV Likely pathogenic 522379
12 CYP26C1 NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)duplication Conflicting interpretations of pathogenicity 496732 rs565866662 10:94824276-94824277 10:93064519-93064520
13 SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)SNV Conflicting interpretations of pathogenicity 42016 rs61755320 16:89613145-89613145 16:89546737-89546737
14 OPA1 NM_015560.2(OPA1):c.1146A>G (p.Ile382Met)SNV Conflicting interpretations of pathogenicity 50866 rs143319805 3:193361167-193361167 3:193643378-193643378
15 COL4A1 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu)SNV Conflicting interpretations of pathogenicity 196327 rs34004222 13:110866346-110866346 13:110213999-110213999
16 COL4A2 NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)SNV Conflicting interpretations of pathogenicity 311195 rs12877501 13:111164386-111164386 13:110512039-110512039
17 COL4A2 NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser)SNV Conflicting interpretations of pathogenicity 311138 rs200735885 13:111117923-111117923 13:110465576-110465576
18 46;XY;t(4;14)(p14;q11.2)dnTranslocation Uncertain significance 267927
19 COL4A1 NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr)SNV Uncertain significance 496637 rs762408881 13:110845192-110845192 13:110192845-110192845
20 COL4A2 NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg)SNV Uncertain significance 496734 rs201058867 13:111121653-111121653 13:110469306-110469306
21 CYP26A1 NM_057157.2:c.1184T>CSNV Uncertain significance 522175
22 CYP26C1 NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro)SNV Likely benign 496733 rs201284617 10:94821918-94821918 10:93062161-93062161
23 UBE3B NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr)SNV Likely benign 496688 rs753221661 12:109971310-109971310 12:109533505-109533505

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

73
# Symbol AA change Variation ID SNP ID
1 PAX6 p.Ser292Ile VAR_017543
2 PAX6 p.Met381Val VAR_017546
3 PAX6 p.Thr391Ala VAR_017547 rs121907926

Sources

Expression for Optic Nerve Hypoplasia, Bilateral

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Search GEO for disease gene expression data for Optic Nerve Hypoplasia, Bilateral.
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Pathways for Optic Nerve Hypoplasia, Bilateral

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Pathways related to Optic Nerve Hypoplasia, Bilateral according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Signaling pathways regulating pluripotency of stem cells 36
11.29 PAX6 HESX1 ESX1
2
Transcriptional Regulatory Network in Embryonic Stem Cell 63
10.42 PAX6 HESX1 ESX1
Sources

GO Terms for Optic Nerve Hypoplasia, Bilateral

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

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.28 VSX2 SOX5 POU4F2 POU4F1 PAX6 OTX2

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.87 VSX2 POU4F2 POU4F1 PAX6 OTX2 HESX1
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.85 VSX2 POU4F2 POU4F1 PAX6 HESX1 ESX1
3 axonogenesis GO:0007409 9.61 POU4F2 POU4F1 PAX6
4 regulation of transcription, DNA-templated GO:0006355 9.61 VSX2 SOX5 POU4F2 POU4F1 PAX6 OTX2
5 visual perception GO:0007601 9.56 VSX2 RPE65 RHO PAX6
6 positive regulation of osteoclast differentiation GO:0045672 9.48 POU4F2 POU4F1
7 positive regulation of transcription regulatory region DNA binding GO:2000679 9.46 POU4F2 POU4F1
8 neural retina development GO:0003407 9.4 RPE65 ATOH7
9 habenula development GO:0021986 9.16 POU4F1 PAX6
10 retina development in camera-type eye GO:0060041 8.92 RPE65 RHO POU4F2 PAX6

Molecular functions related to Optic Nerve Hypoplasia, Bilateral according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.81 VSX2 SOX5 POU4F2 POU4F1 PAX6 OTX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.72 POU4F2 POU4F1 PAX6 OTX2 HESX1
3 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.56 POU4F2 PAX6 HESX1 ESX1
4 sequence-specific DNA binding GO:0043565 9.5 VSX2 POU4F2 POU4F1 PAX6 OTX2 HESX1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.28 VSX2 SOX5 POU4F2 POU4F1 PAX6 OTX2
Sources

Sources for Optic Nerve Hypoplasia, Bilateral

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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