MCID: OPT037
MIFTS: 51

Optic Nerve Hypoplasia

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

Aliases & Classifications for Optic Nerve Hypoplasia

MalaCards integrated aliases for Optic Nerve Hypoplasia:

Name: Optic Nerve Hypoplasia 54 24 29 13
Optic Nerve Hypoplasia, Bilateral 24 29 69
Bilateral Optic Nerve Hypoplasia 71
Isolated Optic Nerve Hypoplasia 56
Optic Nerve Aplasia, Bilateral 69
Bilateral Optic Nerve Aplasia 71
Bonh 71

Characteristics:

Orphanet epidemiological data:

56
isolated optic nerve hypoplasia
Inheritance: Autosomal dominant;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
optic nerve hypoplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 165550
Orphanet 56 ORPHA137902
UMLS via Orphanet 70 C0338502
ICD10 via Orphanet 34 H47.0
MeSH 42 D000013

Summaries for Optic Nerve Hypoplasia

UniProtKB/Swiss-Prot : 71 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 optic nerve hypoplasia, bilateral, is related to schizencephaly and optic nerve hypoplasia, familial bilateral, and has symptoms including visual impairment, reduced visual acuity and optic nerve aplasia. An important gene associated with Optic Nerve Hypoplasia is PAX6 (Paired Box 6), and among its related pathways/superpathways are Ectoderm Differentiation and Signaling pathways regulating pluripotency of stem cells. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and retina, and related phenotypes are Synthetic lethal with Ras and taste/olfaction

Wikipedia : 72 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

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

(show top 50) (show all 83)
id Related Disease Score Top Affiliating Genes
1 schizencephaly 29.5 HESX1 SOX2
2 optic nerve hypoplasia, familial bilateral 12.0
3 cortical dysplasia, complex, with other brain malformations 8 11.7
4 aniridia 11.3
5 microphthalmia, syndromic 3 11.2
6 septooptic dysplasia 11.0
7 aniridia 3 10.8
8 microcephaly and chorioretinopathy, autosomal recessive, 3 10.8
9 bornholm eye disease 10.8
10 gillespie syndrome 10.8
11 aniridia 2 10.8
12 jag1-related alagille syndrome 10.6 PAX6 TRIM44
13 anal spasm 10.6 PAX6 SOX2
14 hypogonadotropic hypogonadism 24 without anosmia 10.6 ELP4 PAX6
15 epithelial and subepithelial dystrophy 10.5 PAFAH1B1 TUBA8
16 apoa1-related familial visceral amyloidosis 10.5 PAX6 SOX2
17 skin granular cell tumor 10.4 ELP4 PAX6
18 renal, genital, and middle ear anomalies 10.4 HESX1 PAX6 SOX2
19 coronary artery disease 10.3 PAX6 SOX2
20 reflex epilepsy 10.3 ELP4 NDUFS4
21 isolated microphthalmia 10.2 ELP4 PAX6 TRIM44
22 anterior segment dysgenesis 5, multiple subtypes 10.2 ELP4 PAX6 TRIM44
23 ring dermoid of cornea 10.2 HESX1 PAX6
24 hypopituitarism 10.2
25 retinitis 10.1
26 parietal foramina 10.0 ATOH7 PAX6
27 diabetes insipidus 10.0
28 itgb4-related epidermolysis bullosa with pyloric atresia 9.9 DCX PAFAH1B1
29 coloboma 9.9
30 fetal alcohol syndrome 9.9
31 growth hormone deficiency 9.9
32 tn polyagglutination syndrome, somatic 9.9 DCX PAFAH1B1
33 subpulmonary stenosis 9.9 DCX PAFAH1B1
34 anemia, sideroblastic, 3, pyridoxine-refractory 9.8 DCX PAFAH1B1
35 recombinant 8 syndrome 9.8 DCX PAFAH1B1
36 amblyopia 9.8
37 microphthalmia 9.8
38 arachnoiditis 9.8
39 hypothyroidism 9.8
40 arachnoid cysts 9.8
41 obesity 9.8
42 painful legs and moving toes syndrome 9.7 DCX PAFAH1B1
43 isolated growth hormone deficiency 9.7
44 lactic acidosis 9.7
45 spastic paraparesis 9.7
46 blepharophimosis 9.7
47 infertility 9.7
48 combined pituitary hormone deficiency 9.7
49 hemifacial microsomia 9.7
50 strabismus 9.7

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



Diseases related to Optic Nerve Hypoplasia

Symptoms & Phenotypes for Optic Nerve Hypoplasia

Symptoms via clinical synopsis from OMIM:

54

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


Clinical features from OMIM:

165550

Human phenotypes related to Optic Nerve Hypoplasia:

32
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 reduced visual acuity 32 HP:0007663
3 optic nerve hypoplasia 32 HP:0000609
4 optic nerve aplasia 32 HP:0012521
5 abnormality of the optic disc 32 HP:0012795

GenomeRNAi Phenotypes related to Optic Nerve Hypoplasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with Ras GR00018-A-0 9.1 DCX NDUFS4 PAFAH1B1 SLC25A1 TRIM44 TUBGCP4

MGI Mouse Phenotypes related to Optic Nerve Hypoplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.8 HESX1 PAX6 SOX2

Drugs & Therapeutics for Optic Nerve Hypoplasia

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

(show all 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 4
2 Hormones Phase 4
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
4 Ophthalmic Solutions Phase 1
5 Pharmaceutical Solutions Phase 1
6
Melatonin Approved, Nutraceutical, Vet_approved Early Phase 1 73-31-4 896
7 Antioxidants Early Phase 1
8 Central Nervous System Depressants Early Phase 1
9 Protective Agents Early Phase 1

Interventional clinical trials:


id 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 Biological Clock Dysfunction in Optic Nerve Hypoplasia Unknown status NCT00825591 Early Phase 1
4 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025

Search NIH Clinical Center for Optic Nerve Hypoplasia

Genetic Tests for Optic Nerve Hypoplasia

Genetic tests related to Optic Nerve Hypoplasia:

id Genetic test Affiliating Genes
1 Optic Nerve Hypoplasia, Bilateral 29
2 Optic Nerve Hypoplasia 29 24 PAX6

Anatomical Context for Optic Nerve Hypoplasia

MalaCards organs/tissues related to Optic Nerve Hypoplasia:

39
Pituitary, Brain, Retina, Eye, Testes, Thyroid, Occipital Lobe

Publications for Optic Nerve Hypoplasia

Articles related to Optic Nerve Hypoplasia:

(show top 50) (show all 209)
id Title Authors Year
1
Incidental bilateral optic nerve hypoplasia. ( 28611172 )
2017
2
Optic Nerve Hypoplasia: More Than Meets the Eye. ( 28410859 )
2017
3
Brain Malformations Do Not Predict Hypopituitarism in Young Children with Optic Nerve Hypoplasia. ( 28848142 )
2017
4
Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia. ( 27935818 )
2017
5
Genetic causes of optic nerve hypoplasia. ( 28501829 )
2017
6
Predictive value of N95 waveforms of pattern electroretinograms (PERGs) in children with optic nerve hypoplasia (ONH). ( 28795295 )
2017
7
Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia. ( 28205530 )
2017
8
Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia. ( 27014380 )
2016
9
Re: Pilat etA al.: High-resolution imagingA ofA the optic nerve and retina in optic nerve hypoplasia (Ophthalmology 2015;122:1330-9). ( 26902567 )
2016
10
Comparison of Heidelberg Retina Tomograph with disc-macula distance to disc diameter ratio in diagnosing optic nerve hypoplasia. ( 26799143 )
2016
11
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. ( 27661448 )
2016
12
Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with optic nerve hypoplasia and growth hormone deficiency. ( 26937243 )
2016
13
The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines. ( 27426898 )
2016
14
A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. ( 27524922 )
2016
15
VEP analysis methods in children with optic nerve hypoplasia: relationship to visual acuity and optic disc diameter. ( 27882486 )
2016
16
Comparison of the Deep Optic Nerve Structures in Superior Segmental Optic Nerve Hypoplasia and Primary Open-Angle Glaucoma. ( 26950571 )
2016
17
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
18
Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence. ( 25878671 )
2015
19
Macular optical coherence tomography in patients with unilateral optic nerve hypoplasia. ( 25727589 )
2015
20
High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia. ( 25939636 )
2015
21
Association of refractive error with optic nerve hypoplasia. ( 26303450 )
2015
22
Hypothalamic Dysfunction Without Hamartomas Causing Gelastic Seizures in Optic Nerve Hypoplasia. ( 24700666 )
2014
23
Reliability of magnetic resonance imaging for the detection of hypopituitarism in children with optic nerve hypoplasia. ( 23972277 )
2014
24
The Role of Magnetic Resonance Imaging in Diagnosing Optic Nerve Hypoplasia. ( 25128595 )
2014
25
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
26
Autism assessment in children with optic nerve hypoplasia and other vision impairments. ( 24000901 )
2014
27
Clinical and demographic associations with optic nerve hypoplasia in New Zealand. ( 24825844 )
2014
28
Absence of age-related optic disk changes in young children with optic nerve hypoplasia. ( 24556885 )
2014
29
The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism. ( 24210356 )
2013
30
Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia. ( 23640309 )
2013
31
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. ( 23393310 )
2013
32
Optical coherence tomographic findings in optic nerve hypoplasia. ( 24212314 )
2013
33
Failure of stem cell therapy to improve visual acuity in children with optic nerve hypoplasia. ( 24160969 )
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
Optic nerve hypoplasia. ( 24082663 )
2013
36
Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. ( 23233151 )
2013
37
Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia. ( 23802135 )
2013
38
A case of amblyopia with contralateral optic nerve hypoplasia. ( 23331175 )
2013
39
Optic nerve hypoplasia in children and adolescents; prevalence, ocular characteristics and behavioural problems. ( 24119069 )
2013
40
Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. ( 24160732 )
2013
41
Superior segmental optic nerve hypoplasia accompanied by progressive normal-tension glaucoma. ( 23118522 )
2012
42
Newborn thyroid-stimulating hormone in children with optic nerve hypoplasia: associations with hypothyroidism and vision. ( 23084376 )
2012
43
Reappraisal of the optic nerve hypoplasia syndrome. ( 22330852 )
2012
44
Serum prolactin concentrations in relation to hypopituitarism and obesity in children with optic nerve hypoplasia. ( 22572701 )
2012
45
Peripheral retinal nonperfusion associated with optic nerve hypoplasia and lissencephaly. ( 22411675 )
2012
46
Characteristics of segmental optic nerve hypoplasia. ( 23060020 )
2012
47
Congenital absence of gluteal muscles, optic nerve hypoplasia, and central nervous system hamartomas. ( 22146147 )
2012
48
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. ( 22153411 )
2011
49
Macular thinning associated with unilateral optic nerve hypoplasia. ( 21323261 )
2011
50
On the use of "stem cells" for optic nerve hypoplasia. ( 21539980 )
2011

Variations for Optic Nerve Hypoplasia

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

71
id 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:

6
id 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.1171A> G (p.Thr391Ala) single nucleotide variant Pathogenic rs121907926 GRCh37 Chromosome 11, 31812270: 31812270
3 HERC2 NM_004667.5(HERC2): c.6976delC (p.Leu2326Terfs) deletion Pathogenic rs1057518934 GRCh37 Chromosome 15, 28456241: 28456241

Expression for Optic Nerve Hypoplasia

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

Pathways for Optic Nerve Hypoplasia

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

id Super pathways Score Top Affiliating Genes
1 11.49 HESX1 PAX6 SOX2
2 11.27 HESX1 PAX6 SOX2
3 10.75 DCX PAFAH1B1
4 10.42 HESX1 PAX6 SOX2

GO Terms for Optic Nerve Hypoplasia

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

id Name GO ID Score Top Affiliating Genes
1 microtubule associated complex GO:0005875 9.16 DCX PAFAH1B1
2 microtubule cytoskeleton GO:0015630 9.13 PAFAH1B1 TUBA8 TUBGCP4
3 microtubule GO:0005874 8.92 DCX PAFAH1B1 TUBA8 TUBGCP4

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

id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.63 ATOH7 DCX HESX1 PAFAH1B1 PAX6 SOX2
2 regulation of gene expression GO:0010468 9.61 PAX6 SOX2 TRIM44
3 neuron migration GO:0001764 9.5 DCX PAFAH1B1 PAX6
4 microtubule-based process GO:0007017 9.46 PAFAH1B1 TUBA8
5 eye development GO:0001654 9.4 PAX6 SOX2
6 establishment of mitotic spindle orientation GO:0000132 9.37 PAFAH1B1 PAX6
7 layer formation in cerebral cortex GO:0021819 9.26 DCX PAFAH1B1
8 pituitary gland development GO:0021983 9.13 HESX1 PAX6 SOX2
9 brain development GO:0007420 9.02 DCX HESX1 NDUFS4 PAFAH1B1 PAX6

Sources for Optic Nerve Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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