MCID: OPT070
MIFTS: 43

Optic Nerve Hypoplasia, Bilateral

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

Orphanet: 59  
Rare eye diseases


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 78)
# Related Disease Score Top Affiliating Genes
1 optic nerve hypoplasia, familial bilateral 12.3
2 cortical dysplasia, complex, with other brain malformations 8 12.1
3 septooptic dysplasia 11.5
4 microphthalmia, syndromic 3 11.3
5 aniridia 1 11.1
6 aniridia 2 11.1
7 aniridia and absent patella 10.9
8 gillespie syndrome 10.9
9 bornholm eye disease 10.9
10 microcephaly and chorioretinopathy, autosomal recessive, 3 10.9
11 aniridia 3 10.9
12 hypopituitarism 10.3
13 retinitis 10.2
14 diabetes insipidus 10.0
15 aging 10.0
16 fetal alcohol syndrome 10.0
17 growth hormone deficiency 10.0
18 autism 9.9
19 diabetes mellitus 9.9
20 amblyopia 9.9
21 microphthalmia 9.9
22 arachnoiditis 9.9
23 hypothyroidism 9.9
24 arachnoid cysts 9.9
25 exudative vitreoretinopathy 1 9.7
26 glaucoma, primary open angle 9.7
27 hemifacial microsomia 9.7
28 strabismus 9.7
29 chondrodysplasia punctata syndrome 9.7
30 donnai-barrow syndrome 9.7
31 gluteal muscles, absence of 9.7
32 mitochondrial complex i deficiency 9.7
33 pituitary hormone deficiency, combined, 2 9.7
34 retinitis pigmentosa 9.7
35 schizencephaly 9.7
36 astigmatism 9.7
37 leber congenital amaurosis 4 9.7
38 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 9.7
39 cataract 9.7
40 hemangioma 9.7
41 hepatitis 9.7
42 hydrocephalus 9.7
43 male infertility 9.7
44 lissencephaly 9.7
45 autism spectrum disorder 9.7
46 myelomeningocele 9.7
47 isolated growth hormone deficiency 9.7
48 blepharophimosis 9.7
49 open-angle glaucoma 9.7
50 myopia 9.7

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 reproductive system MP:0005389 8.8 COL4A1 HERC2 PAX6

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 211)
# Title Authors Year
1
Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia. ( 28205530 )
2017
2
Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation. ( 28985824 )
2017
3
Genetic causes of optic nerve hypoplasia. ( 28501829 )
2017
4
Incidental bilateral optic nerve hypoplasia. ( 28611172 )
2017
5
Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia. ( 28848142 )
2017
6
Optic Nerve Hypoplasia: More Than Meets the Eye. ( 28410859 )
2017
7
Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia. ( 27935818 )
2017
8
Predictive value of N95 waveforms of pattern electroretinograms (PERGs) in children with optic nerve hypoplasia (ONH). ( 28795295 )
2017
9
Comparison of the Deep Optic Nerve Structures in Superior Segmental Optic Nerve Hypoplasia and Primary Open-Angle Glaucoma. ( 26950571 )
2016
10
Comparison of Heidelberg Retina Tomograph with disc-macula distance to disc diameter ratio in diagnosing optic nerve hypoplasia. ( 26799143 )
2016
11
Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia. ( 27014380 )
2016
12
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. ( 27661448 )
2016
13
A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. ( 27524922 )
2016
14
VEP analysis methods in children with optic nerve hypoplasia: relationship to visual acuity and optic disc diameter. ( 27882486 )
2016
15
The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines. ( 27426898 )
2016
16
Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with optic nerve hypoplasia and growth hormone deficiency. ( 26937243 )
2016
17
Re: Pilat etA al.: High-resolution imagingA ofA the optic nerve and retina in optic nerve hypoplasia (Ophthalmology 2015;122:1330-9). ( 26902567 )
2016
18
High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia. ( 25939636 )
2015
19
Association of refractive error with optic nerve hypoplasia. ( 26303450 )
2015
20
Macular optical coherence tomography in patients with unilateral optic nerve hypoplasia. ( 25727589 )
2015
21
Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence. ( 25878671 )
2015
22
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
23
Clinical and demographic associations with optic nerve hypoplasia in New Zealand. ( 24825844 )
2014
24
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
25
Autism assessment in children with optic nerve hypoplasia and other vision impairments. ( 24000901 )
2014
26
Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia. ( 23972277 )
2014
27
Hypothalamic Dysfunction Without Hamartomas Causing Gelastic Seizures in Optic Nerve Hypoplasia. ( 24700666 )
2014
28
The Role of Magnetic Resonance Imaging in Diagnosing Optic Nerve Hypoplasia. ( 25128595 )
2014
29
Absence of age-related optic disk changes in young children with optic nerve hypoplasia. ( 24556885 )
2014
30
A case of amblyopia with contralateral optic nerve hypoplasia. ( 23331175 )
2013
31
Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. ( 23233151 )
2013
32
Optic nerve hypoplasia in children and adolescents; prevalence, ocular characteristics and behavioural problems. ( 24119069 )
2013
33
Optical coherence tomographic findings in optic nerve hypoplasia. ( 24212314 )
2013
34
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
35
Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia. ( 23640309 )
2013
36
Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia. ( 23802135 )
2013
37
Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. ( 24160732 )
2013
38
Failure of stem cell therapy to improve visual acuity in children with optic nerve hypoplasia. ( 24160969 )
2013
39
The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism. ( 24210356 )
2013
40
Optic nerve hypoplasia. ( 24082663 )
2013
41
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. ( 23393310 )
2013
42
Newborn thyroid-stimulating hormone in children with optic nerve hypoplasia: associations with hypothyroidism and vision. ( 23084376 )
2012
43
Characteristics of segmental optic nerve hypoplasia. ( 23060020 )
2012
44
Congenital absence of gluteal muscles, optic nerve hypoplasia, and central nervous system hamartomas. ( 22146147 )
2012
45
Peripheral retinal nonperfusion associated with optic nerve hypoplasia and lissencephaly. ( 22411675 )
2012
46
Reappraisal of the optic nerve hypoplasia syndrome. ( 22330852 )
2012
47
Serum prolactin concentrations in relation to hypopituitarism and obesity in children with optic nerve hypoplasia. ( 22572701 )
2012
48
Superior segmental optic nerve hypoplasia accompanied by progressive normal-tension glaucoma. ( 23118522 )
2012
49
Macular thinning associated with unilateral optic nerve hypoplasia. ( 21323261 )
2011
50
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. ( 22153411 )
2011

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
# 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 46;X;t(X;5)(p11.23;q35)dn Translocation Pathogenic
6 46;XY;t(4;14)(p14;q11.2)dn Translocation Uncertain significance
7 HERC2 NM_004667.5(HERC2): c.6976delC (p.Leu2326Terfs) deletion Pathogenic rs1057518934 GRCh37 Chromosome 15, 28456241: 28456241
8 HERC2 NM_004667.5(HERC2): c.6976delC (p.Leu2326Terfs) deletion Pathogenic rs1057518934 GRCh38 Chromosome 15, 28211095: 28211095
9 COL4A1 NM_001845.5(COL4A1): c.2842G> A (p.Gly948Ser) single nucleotide variant Pathogenic GRCh38 Chromosome 13, 110176912: 110176912
10 COL4A1 NM_001845.5(COL4A1): c.2842G> A (p.Gly948Ser) single nucleotide variant Pathogenic GRCh37 Chromosome 13, 110829259: 110829259

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 8.62 COL4A1 PAX6

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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