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BONH
MCID: OPT070
MIFTS: 55

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 57 29 6 70
Optic Nerve Hypoplasia 57 36 29 13 6 44
Optic Nerve Hypoplasia, Familial Bilateral 73 20 70
Bilateral Optic Nerve Hypoplasia 12 72 15
Familial Bilateral Optic Nerve Hypoplasia 12 20
Isolated Optic Nerve Hypoplasia/aplasia 12 58
Optic Nerve Aplasia, Bilateral 6 70
Hypoplasia, Optic Nerve, Bilateral 39
Bilateral Optic Nerve Aplasia 72
Bonh 72
Onh 12

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 165550
KEGG 36 H02203
ICD9CM 34 377.43
NCIt 50 C98999
SNOMED-CT 67 95499004
ICD10 32 H47.03
ICD10 via Orphanet 33 H47.0
UMLS via Orphanet 71 C0338502
Orphanet 58 ORPHA137902
UMLS 70 C0338502 C1833797 C1833798 more
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 microphthalmia, syndromic 3. An important gene associated with Optic Nerve Hypoplasia, Bilateral is PAX6 (Paired Box 6), and among its related pathways/superpathways is Transcriptional Regulatory Network in Embryonic Stem Cell. The drugs Hormones and Melatonin have been mentioned in the context of this disorder. Affiliated tissues include eye, pituitary and retina, 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 : 72 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 : 73 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 231)
# Related Disease Score Top Affiliating Genes
1 septooptic dysplasia 32.9 PAX6 OTX2 HESX1 ESX1
2 microphthalmia, syndromic 3 32.8 VSX2 PAX6 OTX2
3 aniridia 2 32.6 PAX6 ELP4
4 aniridia 1 32.4 VSX2 PAX6 OTX2 ELP4
5 pathologic nystagmus 31.4 RPE65 RHO PAX6 OTX2 ELP4
6 strabismus 31.2 TMCO1 SOX5 RHO PAX6
7 esotropia 31.0 PAX6 OTX2 HESX1
8 yemenite deaf-blind hypopigmentation syndrome 30.9 RPE65 RHO
9 pituitary hormone deficiency, combined, 2 30.9 OTX2 HESX1 ESX1
10 fryns microphthalmia syndrome 30.8 VSX2 PAX6 OTX2 HESX1
11 isolated growth hormone deficiency 30.8 PAX6 OTX2 HESX1 ESX1
12 intraocular pressure quantitative trait locus 30.7 TMCO1 POU4F1 PAX6
13 coloboma of macula 30.7 VSX2 PAX6 OTX2 HESX1 ESX1 ELP4
14 optic nerve disease 30.7 RBPMS POU4F2 POU4F1 PAX6 NEFL ELP4
15 microphthalmia 30.6 VSX2 PAX6 OTX2 HESX1 ELP4 COL4A1
16 glaucoma, primary open angle 30.6 TMCO1 RHO POU4F1 PAX6 ATOH7
17 anterior segment dysgenesis 30.5 VSX2 TMCO1 PAX6 OTX2 COL4A2 COL4A1
18 persistent hyperplastic primary vitreous 30.5 VSX2 PAX6 OTX2 ATOH7
19 cataract 30.5 VSX2 RHO PAX6 OTX2 ELP4 COL4A1
20 ocular hypertension 30.4 TMCO1 RHO RBPMS POU4F1
21 retinitis pigmentosa 30.2 VSX2 RPE65 RHO POU4F2 POU4F1 PAX6
22 polymicrogyria with optic nerve hypoplasia 11.5
23 syndromic optic nerve hypoplasia 11.2
24 aniridia and absent patella 11.1
25 gillespie syndrome 11.1
26 kaufman oculocerebrofacial syndrome 11.1
27 bornholm eye disease 11.1
28 congenital disorder of glycosylation, type iq 11.1
29 cortical dysplasia, complex, with other brain malformations 1 11.1
30 microcephaly and chorioretinopathy, autosomal recessive, 3 11.1
31 aniridia 3 11.1
32 cask-related intellectual disability 11.1
33 hypopituitarism 10.6
34 growth hormone deficiency 10.5
35 acquired porencephaly 10.5 COL4A2 COL4A1
36 angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 10.5 COL4A2 COL4A1
37 brain small vessel disease 1 with or without ocular anomalies 10.5 COL4A2 COL4A1
38 hereditary wilms' tumor 10.5 PAX6 ELP4
39 foveal hypoplasia 1 10.5 PAX6 ELP4
40 thrombophlebitis migrans 10.5 POU4F2 POU4F1
41 combined pituitary hormone deficiencies, genetic forms 10.5 OTX2 HESX1
42 coloboma of optic nerve 10.5 PAX6 HESX1 ELP4
43 mechanical strabismus 10.4
44 microphthalmia, syndromic 8 10.4 VSX2 PAX6 OTX2
45 congenital aphakia 10.4 VSX2 PAX6
46 iris disease 10.4 PAX6 OTX2 ELP4
47 microphthalmia, isolated 3 10.4 VSX2 PAX6 OTX2
48 microphthalmia, isolated 2 10.4 VSX2 PAX6 OTX2
49 suppression amblyopia 10.4
50 amblyopia 10.4

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®:

57 (Updated 05-Apr-2021)
Eyes:
optic nerve hypoplasia
poor visual acuity
small discs
concentric peripapillary halos
wandering eye movements

Clinical features from OMIM®:

165550 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Optic Nerve Hypoplasia, Bilateral:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.2 ATOH7 COL4A1 COL4A2 HERC2 HESX1 NEFL
2 mortality/aging MP:0010768 10.18 COL4A1 COL4A2 HERC2 HESX1 OTX2 PAX6
3 normal MP:0002873 9.86 ATOH7 HESX1 NEFL OTX2 PAX6 POU4F1
4 reproductive system MP:0005389 9.65 ATOH7 COL4A1 COL4A2 HERC2 OTX2 PAX6
5 pigmentation MP:0001186 9.63 OTX2 PAX6 RHO RPE65 TMEM98 VSX2
6 vision/eye MP:0005391 9.44 ATOH7 COL4A1 COL4A2 HESX1 OTX2 PAX6
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 4
2
Melatonin Approved, Nutraceutical, Vet_approved Early Phase 1 73-31-4 896
3 Protective Agents Early Phase 1
4 Antioxidants 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 Identification and Treatment of Biological Clock Dysfunction in Optic Nerve Hypoplasia Completed 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

About this section

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

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

Publications for Optic Nerve Hypoplasia, Bilateral

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Articles related to Optic Nerve Hypoplasia, Bilateral:

(show top 50) (show all 655)
# Title Authors PMID Year
1
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 6 57 61
12721955 2003
2
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. 61 6
31696227 2020
3
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. 57 61
14602762 2003
4
Pituitary dysfunction, morbidity and mortality with congenital midline malformation of the cerebrum. 61 57
10048603 1999
5
Familial bilateral optic nerve hypoplasia. 57 61
1115199 1975
6
Sudden death in septo-optic dysplasia. Report of 5 cases. 57
9006427 1997
7
Not simply a small optic disc: Isolated optic nerve hypoplasia. 61
33388191 2021
8
Repeated measurements of ERGs and VEPs using chloral hydrate sedation and propofol anesthesia in young children. 61
33778913 2021
9
Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles. 61
33806565 2021
10
Unilateral optic nerve hypoplasia in a case of septo-optic dysplasia. 61
33573794 2021
11
Neuropathology of Septo-optic Dysplasia: A Report of 4 Autopsy Cases. 61
32921263 2021
12
Review of the MRI brain findings of septo-optic dysplasia. 61
33019967 2021
13
Ocular Phenotype Associated with DYRK1A Variants. 61
33562844 2021
14
Congenital Blindness and Autism Spectrum Disorder. 61
33433139 2021
15
Hypernatremia in an Infant: A Case of Septo-Optic Dysplasia. 61
33552768 2021
16
Prenatal diagnosis of isolated agenesis of the septum pellucidum with ultrasound and magnetic resonance imaging 61
33361505 2020
17
Endocrine Dysfunction in Children with Zika-Related Microcephaly Who Were Born during the 2015 Epidemic in the State of Pernambuco, Brazil. 61
33374895 2020
18
Normal and abnormal foveal development. 61
33148537 2020
19
Survival of a male patient harboring CASK Arg27Ter mutation to adolescence. 61
32696595 2020
20
Orbital MRI versus fundus photography in the diagnosis of optic nerve hypoplasia and prediction of vision. 61
32024653 2020
21
Relationship between refractive correction, visual symptoms, and optical device selection for low-vision patients in Taiwan. 61
31787520 2020
22
Septo-optic dysplasia with fovea plana: A case report. 61
32530711 2020
23
Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia. 61
32196785 2020
24
Optic Nerve Hypoplasia: "Neural Guidance" and the Role of Mentorship. 61
32796342 2020
25
Fetal Ultrasound and Magnetic Resonance Imaging Findings in Suspected Septo-Optic Dysplasia: A Diagnostic Dilemma. 61
32118312 2020
26
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. 61
32424177 2020
27
Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency. 61
32620854 2020
28
Thinner retinal nerve fibre layer in young adults with foetal alcohol spectrum disorders. 61
32620687 2020
29
Septo-optic Dysplasia with Cerebellar Hemiagenesis. 61
33531961 2020
30
Transcriptome analysis of the zebrafish atoh7-/- Mutant, lakritz, highlights Atoh7-dependent genetic networks with potential implications for human eye diseases. 61
32676583 2020
31
Haploinsufficiency of X-linked intellectual disability gene CASK induces post-transcriptional changes in synaptic and cellular metabolic pathways. 61
32305418 2020
32
The Molecular Basis of Congenital Hypopituitarism and Related Disorders. 61
31702014 2020
33
Ophthalmologic Findings in Fetal Alcohol Spectrum Disorders - A Cohort Study From Childhood to Adulthood. 61
31926885 2020
34
Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy. 61
32522703 2020
35
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 61
32275123 2020
36
Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism. 61
31769495 2020
37
Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders. 61
32140665 2020
38
Squalene Synthase Deficiency 61
32027475 2020
39
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. 61
30541351 2020
40
Optic nerve hypoplasia in miniature poodle dogs: A preliminary genetic and candidate gene association study. 61
31342635 2020
41
Non-Arteritic Anterior Ischaemic Optic Neuropathy Associated with Optic Nerve Hypoplasia and Elevated Intraocular Pressure. 61
33335346 2020
42
Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic. 61
31811804 2020
43
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia. 61
32040484 2020
44
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study. 61
31729143 2020
45
Direct OPTOS Nerve Size Determination of Prevalent Optic Nerve Hypoplasia in Alaska. 61
32109985 2020
46
Septo-optic dysplasia with amniotic band syndrome sequence: a case report. 61
31839004 2019
47
Optic Nerve Hypoplasia in the Eye and Beyond. 61
31725842 2019
48
FEVR phenotype associated with septo-optic dysplasia. 61
31755341 2019
49
High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia. 61
30740788 2019
50
AN UNEXPECTED COMBINATION OF PROLACTINOMA AND SEPTO-OPTIC DYSPLASIA. 61
31967053 2019
Sources

Variations for Optic Nerve Hypoplasia, Bilateral

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ClinVar genetic disease variations for Optic Nerve Hypoplasia, Bilateral:

6 (show all 21)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX6 NM_001368911.1(PAX6):c.1078-703A>G SNV Pathogenic 3478 rs121907926 GRCh37: 11:31812270-31812270
GRCh38: 11:31790722-31790722
2 HERC2 NM_004667.5(HERC2):c.6976del (p.Ile2325_Leu2326insTer) Deletion Pathogenic 374155 rs1057518934 GRCh37: 15:28456241-28456241
GRCh38: 15:28211095-28211095
3 COL4A1 NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser) SNV Pathogenic 496641 rs1555303073 GRCh37: 13:110829259-110829259
GRCh38: 13:110176912-110176912
4 ATOH7 NM_145178.4(ATOH7):c.175G>A (p.Ala59Thr) SNV Pathogenic 812672 rs138274069 GRCh37: 10:69991260-69991260
GRCh38: 10:68231503-68231503
5 PAX6 NM_000280.4(PAX6):c.613C>T (p.Gln205Ter) SNV Pathogenic 3476 rs121907924 GRCh37: 11:31816247-31816247
GRCh38: 11:31794699-31794699
6 SOX5 Deletion Pathogenic 496727 GRCh37: 12:23432684-23773692
GRCh38: 12:23279750-23620758
7 ATOH7 NM_145178.4(ATOH7):c.176C>T (p.Ala59Val) SNV Pathogenic 812673 rs754494518 GRCh37: 10:69991259-69991259
GRCh38: 10:68231502-68231502
8 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
9 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
10 PAX6 NM_000280.4:c.1267A>T SNV Likely pathogenic 522379 GRCh37:
GRCh38:
11 COL4A2 NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) SNV Likely pathogenic 311195 rs12877501 GRCh37: 13:111164386-111164386
GRCh38: 13:110512039-110512039
12 COL4A2 NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) SNV Uncertain significance 311138 rs200735885 GRCh37: 13:111117923-111117923
GRCh38: 13:110465576-110465576
13 CYP26A1 NM_057157.2:c.1184T>C SNV Uncertain significance 522175 GRCh37:
GRCh38:
14 COL4A1 NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) SNV Uncertain significance 196327 rs34004222 GRCh37: 13:110866346-110866346
GRCh38: 13:110213999-110213999
15 COL4A1 NM_001845.6(COL4A1):c.1450C>A (p.Pro484Thr) SNV Uncertain significance 496637 rs762408881 GRCh37: 13:110845192-110845192
GRCh38: 13:110192845-110192845
16 SPG7 NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) SNV Uncertain significance 42016 rs61755320 GRCh37: 16:89613145-89613145
GRCh38: 16:89546737-89546737
17 COL4A2 NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) SNV Uncertain significance 496734 rs201058867 GRCh37: 13:111121653-111121653
GRCh38: 13:110469306-110469306
18 OPA1 NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) SNV Uncertain significance 50866 rs143319805 GRCh37: 3:193361167-193361167
GRCh38: 3:193643378-193643378
19 CYP26C1 NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) Duplication Likely benign 496732 rs565866662 GRCh37: 10:94824276-94824277
GRCh38: 10:93064519-93064520
20 UBE3B NM_130466.4(UBE3B):c.2962G>A (p.Ala988Thr) SNV Likely benign 496688 rs753221661 GRCh37: 12:109971310-109971310
GRCh38: 12:109533505-109533505
21 CYP26C1 NM_183374.3(CYP26C1):c.356A>C (p.Gln119Pro) SNV Likely benign 496733 rs201284617 GRCh37: 10:94821918-94821918
GRCh38: 10:93062161-93062161

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

72
# 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
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 chromatin GO:0000785 9.28 VSX2 SOX5 POU4F2 POU4F1 PAX6 OTX2
2 collagen type IV trimer GO:0005587 8.96 COL4A2 COL4A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 VSX2 POU4F2 POU4F1 PAX6 HESX1 ESX1
2 multicellular organism development GO:0007275 9.87 VSX2 POU4F2 POU4F1 PAX6 OTX2 HESX1
3 regulation of transcription, DNA-templated GO:0006355 9.81 VSX2 SOX5 POU4F2 POU4F1 PAX6 OTX2
4 visual perception GO:0007601 9.71 VSX2 RPE65 RHO PAX6
5 axonogenesis GO:0007409 9.67 POU4F2 POU4F1 PAX6
6 forebrain development GO:0030900 9.61 PAX6 OTX2 HESX1
7 positive regulation of osteoclast differentiation GO:0045672 9.54 POU4F2 POU4F1
8 camera-type eye development GO:0043010 9.54 RPE65 PAX6 HESX1
9 neural retina development GO:0003407 9.52 RPE65 ATOH7
10 positive regulation of transcription regulatory region DNA binding GO:2000679 9.51 POU4F2 POU4F1
11 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.48 COL4A2 COL4A1
12 regulation of transcription by RNA polymerase II GO:0006357 9.32 VSX2 SOX5 POU4F2 POU4F1 PAX6 OTX2
13 habenula development GO:0021986 9.26 POU4F1 PAX6
14 retina development in camera-type eye GO:0060041 9.26 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 9.91 VSX2 SOX5 POU4F2 POU4F1 PAX6 OTX2
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.87 SOX5 POU4F2 POU4F1 PAX6 OTX2 HESX1
3 DNA-binding transcription factor activity GO:0003700 9.77 SOX5 POU4F2 POU4F1 PAX6 OTX2
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.61 VSX2 SOX5 POU4F2 POU4F1 PAX6 OTX2
5 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.55 VSX2 POU4F2 PAX6 HESX1 ESX1
6 sequence-specific double-stranded DNA binding GO:1990837 9.17 VSX2 POU4F1 PAX6 OTX2 HESX1 ESX1
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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