BONH
MCID: OPT070
MIFTS: 49

Optic Nerve Hypoplasia, Bilateral (BONH)

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

Aliases & Classifications for Optic Nerve Hypoplasia, Bilateral

MalaCards integrated aliases for Optic Nerve Hypoplasia, Bilateral:

Name: Optic Nerve Hypoplasia, Bilateral 57 29 6 73
Optic Nerve Hypoplasia 57 37 29 13 6
Optic Nerve Aplasia, Bilateral 6 73
Isolated Optic Nerve Hypoplasia/aplasia 59
Hypoplasia, Optic Nerve, Bilateral 40
Bilateral Optic Nerve Hypoplasia 75
Bilateral Optic Nerve Aplasia 75
Bonh 75

Characteristics:

Orphanet epidemiological data:

59
isolated optic nerve hypoplasia/aplasia
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
optic nerve hypoplasia, bilateral:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Optic Nerve Hypoplasia, Bilateral

UniProtKB/Swiss-Prot : 75 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, Bilateral, also known as optic nerve hypoplasia, is related to optic nerve hypoplasia, familial bilateral and cortical dysplasia, complex, with other brain malformations 8. An important gene associated with Optic Nerve Hypoplasia, Bilateral is PAX6 (Paired Box 6). Affiliated tissues include pituitary, brain and retina, and related phenotypes are eeg abnormality and corneal opacity

Wikipedia : 76 Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic... more...

Description from OMIM: 165550

Related Diseases for Optic Nerve Hypoplasia, Bilateral

Diseases in the Optic Nerve Hypoplasia, Bilateral family:

Optic Nerve Hypoplasia, Familial Bilateral

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

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 optic nerve hypoplasia, familial bilateral 12.5
2 cortical dysplasia, complex, with other brain malformations 8 12.2
3 septooptic dysplasia 11.6
4 microphthalmia, syndromic 3 11.5
5 aniridia 1 11.2
6 aniridia 2 11.2
7 aniridia and absent patella 11.1
8 gillespie syndrome 11.1
9 bornholm eye disease 11.1
10 microcephaly and chorioretinopathy, autosomal recessive, 3 11.1
11 aniridia 3 11.1
12 hypopituitarism 10.4
13 diabetes insipidus 10.1
14 fetal alcohol syndrome 10.1
15 alcohol-related birth defect 10.1
16 growth hormone deficiency 10.1
17 autism 10.0
18 diabetes mellitus 10.0
19 amblyopia 10.0
20 microphthalmia 10.0
21 hypothyroidism 10.0
22 arachnoid cysts 10.0
23 hydranencephaly 9.9
24 exudative vitreoretinopathy 1 9.8
25 glaucoma, primary open angle 9.8
26 hemifacial microsomia 9.8
27 strabismus 9.8
28 chondrodysplasia punctata syndrome 9.8
29 donnai-barrow syndrome 9.8
30 gluteal muscles, absence of 9.8
31 mitochondrial complex i deficiency 9.8
32 pituitary hormone deficiency, combined, 2 9.8
33 retinitis pigmentosa 9.8
34 schizencephaly 9.8
35 astigmatism 9.8
36 leber congenital amaurosis 4 9.8
37 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.8
38 cerebellar atrophy, developmental delay, and seizures 9.8
39 hemangioma 9.8
40 hepatitis 9.8
41 hydrocephalus 9.8
42 male infertility 9.8
43 lissencephaly 9.8
44 autism spectrum disorder 9.8
45 myelomeningocele 9.8
46 isolated growth hormone deficiency 9.8
47 blepharophimosis 9.8
48 open-angle glaucoma 9.8
49 myopia 9.8
50 duane retraction syndrome 9.8

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



Diseases related to Optic Nerve Hypoplasia, Bilateral

Symptoms & Phenotypes for Optic Nerve Hypoplasia, Bilateral

Symptoms via clinical synopsis from OMIM:

57
Eyes:
optic nerve hypoplasia
poor visual acuity
small discs
concentric peripapillary halos
wandering eye movements


Clinical features from OMIM:

165550

Human phenotypes related to Optic Nerve Hypoplasia, Bilateral:

59 32 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0002353
2 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
3 growth delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001510
4 neurodevelopmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0012758
5 reduced visual acuity 59 32 Very frequent (99-80%) HP:0007663
6 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
7 chorioretinal coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000567
8 optic nerve hypoplasia 59 32 obligate (100%) Obligate (100%) HP:0000609
9 vesicoureteral reflux 59 32 occasional (7.5%) Occasional (29-5%) HP:0000076
10 aplasia/hypoplasia of the iris 59 32 occasional (7.5%) Occasional (29-5%) HP:0008053
11 optic disc hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007766
12 unilateral microphthalmos 59 32 occasional (7.5%) Occasional (29-5%) HP:0011480
13 pseudopapilledema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000538
14 abnormal best corrected visual acuity test 59 32 hallmark (90%) Very frequent (99-80%) HP:0030534
15 peripheral vitreous opacities 59 32 frequent (33%) Frequent (79-30%) HP:0007710
16 abnormal involuntary eye movements 59 32 occasional (7.5%) Occasional (29-5%) HP:0012547
17 visual impairment 32 HP:0000505
18 optic nerve aplasia 32 HP:0012521
19 abnormality of the optic disc 32 HP:0012795

MGI Mouse Phenotypes related to Optic Nerve Hypoplasia, Bilateral:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.26 COL4A1 HERC2 PAX6 SOX5
2 respiratory system MP:0005388 8.8 COL4A1 PAX6 SOX5

Drugs & Therapeutics for Optic Nerve Hypoplasia, Bilateral

Search Clinical Trials , NIH Clinical Center for Optic Nerve Hypoplasia, Bilateral

Genetic Tests for Optic Nerve Hypoplasia, Bilateral

Genetic tests related to Optic Nerve Hypoplasia, Bilateral:

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

Anatomical Context for Optic Nerve Hypoplasia, Bilateral

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

41
Pituitary, Brain, Retina, Eye, Testes, Thyroid, Occipital Lobe

Publications for Optic Nerve Hypoplasia, Bilateral

Articles related to Optic Nerve Hypoplasia, Bilateral:

(show top 50) (show all 228)
# Title Authors Year
1
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. ( 30541351 )
2018
2
Children with optic nerve hypoplasia face a high risk of neurodevelopmental disorders. ( 29172231 )
2018
3
Neuroimaging and endocrine disorders in paediatric optic nerve hypoplasia. ( 28982953 )
2018
4
Unilateral optic nerve hypoplasia: Optical coherence tomography and magnetic resonance imaging study. ( 29153314 )
2018
5
Pituitary Dysfunction in Pediatric Patients with Optic Nerve Hypoplasia: A Retrospective Cohort Study (1975-2014). ( 29176324 )
2018
6
Optical Coherence Tomography in Optic Nerve Hypoplasia: Correlation With Optic Disc Diameter, Nerve Fiber Layer Thickness, and Visual Function. ( 29252690 )
2018
7
Optical Coherence Tomography Angiography Findings in Superior Segmental Optic Nerve Hypoplasia. ( 30289793 )
2018
8
Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia. ( 28205530 )
2017
9
Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation. ( 28985824 )
2017
10
Genetic causes of optic nerve hypoplasia. ( 28501829 )
2017
11
Incidental bilateral optic nerve hypoplasia. ( 28611172 )
2017
12
Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia. ( 28848142 )
2017
13
Optic Nerve Hypoplasia: More Than Meets the Eye. ( 28410859 )
2017
14
Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia. ( 27935818 )
2017
15
Predictive value of N95 waveforms of pattern electroretinograms (PERGs) in children with optic nerve hypoplasia (ONH). ( 28795295 )
2017
16
Increasing incidence of optic nerve hypoplasia/septo-optic dysplasia spectrum: Geographic clustering in Northern Canada. ( 29479262 )
2017
17
Optic nerve hypoplasia and internal carotid artery hypoplasia: a new association. ( 28985826 )
2017
18
Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates. ( 29067402 )
2017
19
Comparison of the Deep Optic Nerve Structures in Superior Segmental Optic Nerve Hypoplasia and Primary Open-Angle Glaucoma. ( 26950571 )
2016
20
Comparison of Heidelberg Retina Tomograph with disc-macula distance to disc diameter ratio in diagnosing optic nerve hypoplasia. ( 26799143 )
2016
21
Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia. ( 27014380 )
2016
22
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. ( 27661448 )
2016
23
A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. ( 27524922 )
2016
24
VEP analysis methods in children with optic nerve hypoplasia: relationship to visual acuity and optic disc diameter. ( 27882486 )
2016
25
The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines. ( 27426898 )
2016
26
Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with optic nerve hypoplasia and growth hormone deficiency. ( 26937243 )
2016
27
Re: Pilat et al.: High-resolution imaging of the optic nerve and retina in optic nerve hypoplasia (Ophthalmology 2015;122:1330-9). ( 26902567 )
2016
28
High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia. ( 25939636 )
2015
29
Association of refractive error with optic nerve hypoplasia. ( 26303450 )
2015
30
Macular optical coherence tomography in patients with unilateral optic nerve hypoplasia. ( 25727589 )
2015
31
Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence. ( 25878671 )
2015
32
Comparison of human expert and computer-automated systems using magnitude-squared coherence (MSC) and bootstrap distribution statistics for the interpretation of pattern electroretinograms (PERGs) in infants with optic nerve hypoplasia (ONH). ( 25761929 )
2015
33
Neuroimaging and clinical features of patients with optic nerve hypoplasia in Taiwan. ( 29018658 )
2015
34
Clinical and demographic associations with optic nerve hypoplasia in New Zealand. ( 24825844 )
2014
35
Re: Ramakrishnaiah et al.: Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia (Ophthalmology 2014;121:387-91). ( 24565741 )
2014
36
Autism assessment in children with optic nerve hypoplasia and other vision impairments. ( 24000901 )
2014
37
Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia. ( 23972277 )
2014
38
Hypothalamic Dysfunction Without Hamartomas Causing Gelastic Seizures in Optic Nerve Hypoplasia. ( 24700666 )
2014
39
The Role of Magnetic Resonance Imaging in Diagnosing Optic Nerve Hypoplasia. ( 25128595 )
2014
40
Absence of age-related optic disk changes in young children with optic nerve hypoplasia. ( 24556885 )
2014
41
A case of amblyopia with contralateral optic nerve hypoplasia. ( 23331175 )
2013
42
Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. ( 23233151 )
2013
43
Optic nerve hypoplasia in children and adolescents; prevalence, ocular characteristics and behavioural problems. ( 24119069 )
2013
44
Optical coherence tomographic findings in optic nerve hypoplasia. ( 24212314 )
2013
45
Reduced ventral cingulum integrity and increased behavioral problems in children with isolated optic nerve hypoplasia and mild to moderate or no visual impairment. ( 23554967 )
2013
46
Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia. ( 23640309 )
2013
47
Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia. ( 23802135 )
2013
48
Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. ( 24160732 )
2013
49
Failure of stem cell therapy to improve visual acuity in children with optic nerve hypoplasia. ( 24160969 )
2013
50
The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism. ( 24210356 )
2013

Variations for Optic Nerve Hypoplasia, Bilateral

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

75
# 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

ClinVar genetic disease variations for Optic Nerve Hypoplasia, Bilateral:

6 (show all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs121907924 GRCh37 Chromosome 11, 31816247: 31816247
2 PAX6 NM_000280.4(PAX6): c.613C> T (p.Gln205Ter) single nucleotide variant Pathogenic rs121907924 GRCh38 Chromosome 11, 31794699: 31794699
3 PAX6 NM_000280.4(PAX6): c.1171A> G (p.Thr391Ala) single nucleotide variant Pathogenic rs121907926 GRCh37 Chromosome 11, 31812270: 31812270
4 PAX6 NM_000280.4(PAX6): c.1171A> G (p.Thr391Ala) single nucleotide variant Pathogenic rs121907926 GRCh38 Chromosome 11, 31790722: 31790722
5 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61755320 GRCh37 Chromosome 16, 89613145: 89613145
6 SPG7 NM_003119.3(SPG7): c.1529C> T (p.Ala510Val) single nucleotide variant Conflicting interpretations of pathogenicity rs61755320 GRCh38 Chromosome 16, 89546737: 89546737
7 OPA1 NM_015560.2(OPA1): c.1146A> G (p.Ile382Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143319805 GRCh37 Chromosome 3, 193361167: 193361167
8 OPA1 NM_015560.2(OPA1): c.1146A> G (p.Ile382Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143319805 GRCh38 Chromosome 3, 193643378: 193643378
9 COL4A1 NM_001845.5(COL4A1): c.161C> T (p.Pro54Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34004222 GRCh37 Chromosome 13, 110866346: 110866346
10 COL4A1 NM_001845.5(COL4A1): c.161C> T (p.Pro54Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs34004222 GRCh38 Chromosome 13, 110213999: 110213999
11 COL4A2 NM_001846.3(COL4A2): c.4987G> A (p.Gly1663Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs12877501 GRCh38 Chromosome 13, 110512039: 110512039
12 COL4A2 NM_001846.3(COL4A2): c.4987G> A (p.Gly1663Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs12877501 GRCh37 Chromosome 13, 111164386: 111164386
13 COL4A2 NM_001846.3(COL4A2): c.1948C> T (p.Pro650Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200735885 GRCh37 Chromosome 13, 111117923: 111117923
14 COL4A2 NM_001846.3(COL4A2): c.1948C> T (p.Pro650Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200735885 GRCh38 Chromosome 13, 110465576: 110465576
15 HERC2 NM_004667.5(HERC2): c.6976delC (p.Leu2326Terfs) deletion Pathogenic rs1057518934 GRCh37 Chromosome 15, 28456241: 28456241
16 HERC2 NM_004667.5(HERC2): c.6976delC (p.Leu2326Terfs) deletion Pathogenic rs1057518934 GRCh38 Chromosome 15, 28211095: 28211095
17 COL4A1 NM_001845.5(COL4A1): c.1450C> A (p.Pro484Thr) single nucleotide variant Uncertain significance rs762408881 GRCh38 Chromosome 13, 110192845: 110192845
18 COL4A1 NM_001845.5(COL4A1): c.1450C> A (p.Pro484Thr) single nucleotide variant Uncertain significance rs762408881 GRCh37 Chromosome 13, 110845192: 110845192
19 COL4A1 NM_001845.5(COL4A1): c.2842G> A (p.Gly948Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 110176912: 110176912
20 COL4A1 NM_001845.5(COL4A1): c.2842G> A (p.Gly948Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 110829259: 110829259
21 UBE3B NM_130466.3(UBE3B): c.2962G> A (p.Ala988Thr) single nucleotide variant Likely benign rs753221661 GRCh38 Chromosome 12, 109533505: 109533505
22 UBE3B NM_130466.3(UBE3B): c.2962G> A (p.Ala988Thr) single nucleotide variant Likely benign rs753221661 GRCh37 Chromosome 12, 109971310: 109971310
23 SOX5 NC_000012.11: g.23432684_23773692del341008 deletion Pathogenic GRCh37 Chromosome 12, 23432684: 23773692
24 CYP26C1 NM_183374.2(CYP26C1): c.845_851dup (p.Gln284Hisfs) duplication Likely benign rs565866662 GRCh37 Chromosome 10, 94824277: 94824283
25 CYP26C1 NM_183374.2(CYP26C1): c.845_851dup (p.Gln284Hisfs) duplication Likely benign rs565866662 GRCh38 Chromosome 10, 93064520: 93064526
26 CYP26C1 NM_183374.2(CYP26C1): c.356A> C (p.Gln119Pro) single nucleotide variant Likely benign rs201284617 GRCh37 Chromosome 10, 94821918: 94821918
27 CYP26C1 NM_183374.2(CYP26C1): c.356A> C (p.Gln119Pro) single nucleotide variant Likely benign rs201284617 GRCh38 Chromosome 10, 93062161: 93062161
28 COL4A2 NM_001846.3(COL4A2): c.2185G> A (p.Gly729Arg) single nucleotide variant Uncertain significance rs201058867 GRCh37 Chromosome 13, 111121653: 111121653
29 COL4A2 NM_001846.3(COL4A2): c.2185G> A (p.Gly729Arg) single nucleotide variant Uncertain significance rs201058867 GRCh38 Chromosome 13, 110469306: 110469306
30 CYP26A1 NM_057157.2: c.1184T> C single nucleotide variant Uncertain significance rs757601865
31 PAX6 NM_000280.4: c.1267A> T single nucleotide variant Likely pathogenic rs750848278

Expression for Optic Nerve Hypoplasia, Bilateral

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

Pathways for Optic Nerve Hypoplasia, Bilateral

GO Terms for Optic Nerve Hypoplasia, Bilateral

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

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 8.96 COL4A1 PAX6
2 cell fate commitment GO:0045165 8.62 PAX6 SOX5

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin-protein transferase activity GO:0004842 8.96 HERC2 PAX6
2 ubiquitin protein ligase binding GO:0031625 8.62 HERC2 PAX6

Sources for Optic Nerve Hypoplasia, Bilateral

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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