BONH
MCID: OPT037
MIFTS: 52

Optic Nerve Hypoplasia (BONH) malady

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

Aliases & Classifications for Optic Nerve Hypoplasia

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Aliases & Descriptions for Optic Nerve Hypoplasia:

Name: Optic Nerve Hypoplasia 52 24 27 12
Optic Nerve Hypoplasia, Bilateral 24 68
Bilateral Optic Nerve Hypoplasia 70 27
Optic Nerve Hypoplasia, Bilateral Optic Nerve Aplasia, Bilateral, Included 52
 
Isolated Optic Nerve Hypoplasia 54
Optic Nerve Aplasia, Bilateral 68
Bilateral Optic Nerve Aplasia 70
Bonh 70

Characteristics:

Orphanet epidemiological data:

54
isolated optic nerve hypoplasia:
Inheritance: Autosomal dominant

HPO:

64
optic nerve hypoplasia:
Inheritance: autosomal dominant inheritance

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

OMIM52 165550
Orphanet54 ORPHA137902
ICD10 via Orphanet31 H47.0
MeSH39 D000013

Summaries for Optic Nerve Hypoplasia

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UniProtKB/Swiss-Prot:70 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 polymicrogyria with optic nerve hypoplasia and optic nerve hypoplasia, familial bilateral, and has symptoms including visual impairment, optic nerve hypoplasia and reduced visual acuity. An important gene associated with Optic Nerve Hypoplasia is PAX6 (Paired Box 6), and among its related pathways are Cardiac Progenitor Differentiation and Lissencephaly gene (LIS1) in neuronal migration and development. Affiliated tissues include pituitary, brain and retina, and related mouse phenotypes are Synthetic lethal with Ras and taste/olfaction.

Wikipedia:71 Optic nerve hypoplasia (ONH) is a medical condition arising from the underdevelopment of the optic... more...

Description from OMIM:52 165550

Related Diseases for Optic Nerve Hypoplasia

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1polymicrogyria with optic nerve hypoplasia12.4
2optic nerve hypoplasia, familial bilateral12.1
3aniridia11.3
4microphthalmia, syndromic 311.2
5septooptic dysplasia11.1
6microcephaly and chorioretinopathy, autosomal recessive, 310.8
7bornholm eye disease10.8
8aniridia 310.8
9epithelial and subepithelial dystrophy10.2PAFAH1B1, TUBA8
10deafness and hereditary hearing loss10.2DCX, PAFAH1B1
11right ventricular hypoplasia, isolated10.2DCX, PAFAH1B1
12asthma susceptibility, adrb2-related10.2PAX6, SOX2
13mental retardation, x-linked, syndromic 1510.2DCX, PAFAH1B1
14kcne2-related familial atrial fibrillation10.2DCX, PAFAH1B1
15meier-gorlin syndrome 610.2DCX, PAFAH1B1
16superficial spreading melanoma10.2DCX, PAFAH1B1
17hypopituitarism10.2
18aids - neurological complications10.2DCX, PAFAH1B1
19palmoplantar keratoderma-sclerodactyly syndrome10.2DCX, PAFAH1B1
20lung agenesis10.2DCX, PAFAH1B1
21meier-gorlin syndrome 110.2PAX6, SOX2
22ring dermoid of cornea10.1HESX1, PAX6
23noonan syndrome 1010.1DCX, PAFAH1B1, TUBA8
24pagod syndrome10.1HESX1, PAX6, SOX2
25retinitis10.1
26reflex epilepsy10.1ELP4, NDUFS4
27persistent vegetative state10.1DCX, PAFAH1B1
28gastrointestinal defects and immunodeficiency syndrome10.1HESX1, SOX2
29kcnj10-related pendred syndrome10.1PAX6, TRIM44
30skin granular cell tumor10.0ELP4, PAX6
31diabetes insipidus10.0
32cornea plana9.9ATOH7, PAX6
33fetal alcohol syndrome9.9
34growth hormone deficiency9.9
35jph2-related familial hypertrophic cardiomyopathy9.9ELP4, PAX6, TRIM44
36myopia 79.9ELP4, PAX6, TRIM44
37obesity9.8
38amblyopia9.8
39microphthalmia9.8
40arachnoiditis9.8
41hypothyroidism9.8
42arachnoid cysts9.8
43mitochondrial complex i deficiency9.7
44schizencephaly9.7
45donnai-barrow syndrome9.7
46hemifacial microsomia9.7
47cataract9.7
48hemangioma9.7
49hepatitis9.7
50hydrocephalus9.7

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



Diseases related to optic nerve hypoplasia

Symptoms & Phenotypes for Optic Nerve Hypoplasia

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Symptoms by clinical synopsis from OMIM:

165550

Clinical features from OMIM:

165550

Human phenotypes related to Optic Nerve Hypoplasia:

 64
id Description HPO Frequency HPO Source Accession
1 visual impairment64 HP:0000505
2 optic nerve hypoplasia64 HP:0000609
3 reduced visual acuity64 HP:0007663
4 optic nerve aplasia64 HP:0012521
5 abnormality of the optic disc64 HP:0012795

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00018-A-08.1DCX, NDUFS4, PAFAH1B1, SLC25A1, TRIM44, TUBGCP4

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.5HESX1, PAX6, SOX2

Drugs & Therapeutics for Optic Nerve Hypoplasia

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 413168
2HormonesPhase 414415
3Hormone AntagonistsPhase 413180
4Pharmaceutical SolutionsPhase 18192
5Ophthalmic SolutionsPhase 11140
6
Melatoninapproved, nutraceutical, vet_approvedEarly Phase 126873-31-4896
Synonyms:
0E2B08C1-B325-45B1-8939-6F9081EFDFA4
4-ACETAMIDO-4'-ISOTHIO-CYANATOSTILBENE-2,2'-DISULFONIC ACID
5-22-12-00042 (Beilstein Handbook Reference)
5-Methoxy-N-acetyltryptamine
5-methoxy-N-acetyltryptamine
73-31-4
A4039/0172195
AB00053279
AC1L1A9Q
AC1Q4F1W
AC1Q4F1X
AKOS000276269
Acetamide, N-(2-(5-methoxy-1H-indol-3-yl)ethyl)- (9CI)
Acetamide, N-[2-(5-methoxy-1H-indol-3-yl)ethyl]- (9CI)
Acetamide, N-[2-(5-methoxyindol-3-yl)ethyl]- (6CI,8CI)
Acetamide, {N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-}
Acetamide, {N-[2-(5-methoxyindol-3-yl)ethyl]-}
BAS 01281092
BIDD:ER0618
BPBio1_000590
BRD-K97530723-001-07-6
BRN 0205542
BSPBio_000536
BSPBio_003006
Bio-0635
C01598
CAS-73-31-4
CCRIS 3472
CHEBI:16796
CHEMBL45
CID896
ChemDiv2_003916
Circadin
D008550
D08170
DB01065
DB08189
DivK1c_000353
EINECS 200-797-7
EU-0100787
HMS1380B22
HMS1569K18
HMS1921E04
HMS2089F09
HMS501B15
HSCI1_000400
HSDB 7509
I05-0076
I10-0345
IDI1_000353
IDI1_002631
IN1244
KBio1_000353
KBio2_000665
KBio2_003233
KBio2_005801
KBio3_002226
KBioGR_000591
KBioSS_000665
L001261
LS-1623
Lopac-M-5250
Lopac0_000787
M 5250
M-1200
M-1250
M1105
M5250_SIGMA
ML1
MLS000859594
MLS001055382
MLS001240204
MT6
Mela-T
Melapure
Melatol
Melatonex
Melatonex, Melatonin
Melatonin
Melatonin (synth.) standard-grade
 
Melatonin (synth.) ultra-pure
Melatonina
Melatonina (TN)
Melatonine
Melovine
MolPort-000-737-883
N-(2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)-Acetamide
N-(2-(5-Methoxyindol-3-yl)ethyl)acetamide
N-Acetyl-5-methoxy-tryptamine
N-Acetyl-5-methoxy-tryptamine Melatonine
N-Acetyl-5-methoxytryptamine
N-[2-(5-Methoxy-1H-indol-3-yl)-ethyl]-acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl)acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxy-1H-indol-3-yl)ethyl]acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]-Acetamide
N-[2-(5-Methoxyindol-3-yl)ethyl]acetamide
N-[2-(5-methoxyindol-3-yl)ethyl]acetamide
N-acetyl-5-methoxy-tryptamine
NCGC00015680-01
NCGC00015680-02
NCGC00015680-03
NCGC00015680-06
NCGC00015680-13
NCGC00090727-01
NCGC00090727-02
NCGC00090727-03
NCGC00090727-04
NCGC00090727-05
NCGC00090727-06
NCGC00090727-07
NCGC00090727-08
NCGC00090727-09
NCI60_004378
NINDS_000353
NMR/14327425
NSC 113928
NSC113928
NSC56423
Nature'S Harmony
Night Rest
Oprea1_104553
Oprea1_814234
PREVENTION 1 (MELATONIN) (PREVENTION 1)
PREVENTION 2 (MELATONIN)
PREVENTION 3 (MELATONIN)
PREVENTION 4 (MELATONIN)
PREVENTION 5 (MELATONIN)
Pineal Hormone
Posidorm
Prestwick0_000458
Prestwick1_000458
Prestwick2_000458
Prestwick3_000458
Prestwick_312
Regulin
Revital Melatonin
Rx Balance
S1204_Selleck
SDCCGMLS-0065812.P001
SDCCGMLS-0065812.P002
SMP2_000309
SMR000326666
SPBio_001527
SPBio_002475
SPECTRUM1500690
STK386880
Sleep Right
Spectrum2_001344
Spectrum3_001393
Spectrum4_000066
Spectrum5_001745
Spectrum_000185
TNP00300
UNII-JL5DK93RCL
Vivitas
WLN: T56 BMJ D2MV1 GO1
ZINC00057060
{N-[2-(5-methoxy-1H-indol-3-yl)ethyl]-} Acetamide
{N-[2-(5-methoxyindol-3-yl)ethyl]-} Acetamide
7Protective AgentsEarly Phase 17443
8Central Nervous System DepressantsEarly Phase 113403
9AntioxidantsEarly Phase 13050
10Liver Extracts4067

Interventional clinical trials:

idNameStatusNCT IDPhase
1Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve HypoplasiaCompletedNCT00140413Phase 4
2Spectral Domain Optical Coherence Tomography Imaging of the Eyes of NeonatesCompletedNCT01404247Phase 1
3Biological Clock Dysfunction in Optic Nerve HypoplasiaUnknown statusNCT00825591Early Phase 1
4A More Engaging Visual Field Test to Increase Use and Reliability in PediatricsRecruitingNCT02157025
5A Pilot Study to Evaluate the Safety and Efficacy of the Hypoglossal Nerve Stimulator in Adolescents With Down Syndrome and Obstructive Sleep ApneaRecruitingNCT02344108
6Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268
7Clinical and Molecular Investigations Into CiliopathiesActive, not recruitingNCT00068224

Search NIH Clinical Center for Optic Nerve Hypoplasia

Genetic Tests for Optic Nerve Hypoplasia

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Genetic tests related to Optic Nerve Hypoplasia:

id Genetic test Affiliating Genes
1 Optic Nerve Hypoplasia, Bilateral27
2 Optic Nerve Hypoplasia27 24 PAX6

Anatomical Context for Optic Nerve Hypoplasia

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MalaCards organs/tissues related to Optic Nerve Hypoplasia:

36
Pituitary, Brain, Retina, Eye, Occipital lobe, Thyroid, Testes

Publications for Optic Nerve Hypoplasia

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Articles related to Optic Nerve Hypoplasia:

(show top 50)    (show all 206)
idTitleAuthorsYear
1
Retinal Structure and Function in Eyes with Optic Nerve Hypoplasia. (28205530)
2017
2
Genetic causes of optic nerve hypoplasia. (28501829)
2017
3
Optic Nerve Hypoplasia: More Than Meets the Eye. (28410859)
2017
4
Prenatal ethanol exposure in mice phenocopies Cdon mutation by impeding Shh function in the etiology of optic nerve hypoplasia. (27935818)
2017
5
Comparison of the Deep Optic Nerve Structures in Superior Segmental Optic Nerve Hypoplasia and Primary Open-Angle Glaucoma. (26950571)
2016
6
Re: Pilat etA al.: High-resolution imagingA ofA the optic nerve and retina in optic nerve hypoplasia (Ophthalmology 2015;122:1330-9). (26902567)
2016
7
Ocular, Neurologic and Systemic Findings of the Cases with Optic Nerve Hypoplasia. (27014380)
2016
8
A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft. (27524922)
2016
9
Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. (27661448)
2016
10
The Optic Nerve Hypoplasia Spectrum: Review of the Literature and Clinical Guidelines. (27426898)
2016
11
VEP analysis methods in children with optic nerve hypoplasia: relationship to visual acuity and optic disc diameter. (27882486)
2016
12
Comparison of Heidelberg Retina Tomograph with disc-macula distance to disc diameter ratio in diagnosing optic nerve hypoplasia. (26799143)
2016
13
Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with optic nerve hypoplasia and growth hormone deficiency. (26937243)
2016
14
Macular optical coherence tomography in patients with unilateral optic nerve hypoplasia. (25727589)
2015
15
High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia. (25939636)
2015
16
Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence. (25878671)
2015
17
Association of refractive error with optic nerve hypoplasia. (26303450)
2015
18
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
19
Autism assessment in children with optic nerve hypoplasia and other vision impairments. (24000901)
2014
20
Hypothalamic Dysfunction Without Hamartomas Causing Gelastic Seizures in Optic Nerve Hypoplasia. (24700666)
2014
21
Clinical and demographic associations with optic nerve hypoplasia in New Zealand. (24825844)
2014
22
Absence of age-related optic disk changes in young children with optic nerve hypoplasia. (24556885)
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
Incidence and associated endocrine and neurologic abnormalities of optic nerve hypoplasia. (23640309)
2013
27
Optic nerve hypoplasia syndrome: a review of the epidemiology and clinical associations. (23233151)
2013
28
Prenatal determinants of optic nerve hypoplasia: review of suggested correlates and future focus. (24160732)
2013
29
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. (23393310)
2013
30
Failure of stem cell therapy to improve visual acuity in children with optic nerve hypoplasia. (24160969)
2013
31
Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia. (23802135)
2013
32
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
33
Optical coherence tomographic findings in optic nerve hypoplasia. (24212314)
2013
34
A case of amblyopia with contralateral optic nerve hypoplasia. (23331175)
2013
35
Optic nerve hypoplasia. (24082663)
2013
36
The identification and measurement of autistic features in children with septo-optic dysplasia, optic nerve hypoplasia and isolated hypopituitarism. (24210356)
2013
37
Optic nerve hypoplasia in children and adolescents; prevalence, ocular characteristics and behavioural problems. (24119069)
2013
38
Reappraisal of the optic nerve hypoplasia syndrome. (22330852)
2012
39
Congenital absence of gluteal muscles, optic nerve hypoplasia, and central nervous system hamartomas. (22146147)
2012
40
Peripheral retinal nonperfusion associated with optic nerve hypoplasia and lissencephaly. (22411675)
2012
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
Serum prolactin concentrations in relation to hypopituitarism and obesity in children with optic nerve hypoplasia. (22572701)
2012
44
Characteristics of segmental optic nerve hypoplasia. (23060020)
2012
45
Presenting features and long-term effects of growth hormone treatment of children with optic nerve hypoplasia/septo-optic dysplasia. (22085631)
2011
46
On the use of "stem cells" for optic nerve hypoplasia. (21539980)
2011
47
Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. (22153411)
2011
48
Macular thinning associated with unilateral optic nerve hypoplasia. (21323261)
2011
49
Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors. (19141149)
2010
50
Bilateral Duane retraction syndrome with optic nerve hypoplasia. (21214146)
2010

Variations for Optic Nerve Hypoplasia

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

70
id Symbol AA change Variation ID SNP ID
1PAX6p.Ser292IleVAR_017543
2PAX6p.Met381ValVAR_017546
3PAX6p.Thr391AlaVAR_017547rs121907926

Clinvar genetic disease variations for Optic Nerve Hypoplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PAX6NM_ 000280.4(PAX6): c.613C> T (p.Gln205Ter)SNVPathogenicrs121907924GRCh37Chr 11, 31816247: 31816247

Expression for genes affiliated with Optic Nerve Hypoplasia

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

Pathways for genes affiliated with Optic Nerve Hypoplasia

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GO Terms for genes affiliated with Optic Nerve Hypoplasia

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

idNameGO IDScoreTop Affiliating Genes
1microtubule associated complexGO:000587510.4DCX, PAFAH1B1
2microtubuleGO:00058749.5DCX, PAFAH1B1, TUBA8, TUBGCP4
3microtubule cytoskeletonGO:00156309.2PAFAH1B1, TUBA8, TUBGCP4

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1eye developmentGO:000165410.6PAX6, SOX2
2establishment of mitotic spindle orientationGO:000013210.6PAFAH1B1, PAX6
3microtubule-based processGO:000701710.6PAFAH1B1, TUBA8
4layer formation in cerebral cortexGO:002181910.5DCX, PAFAH1B1
5neuron migrationGO:000176410.1DCX, PAFAH1B1, PAX6
6pituitary gland developmentGO:002198310.1HESX1, PAX6, SOX2
7brain developmentGO:00074209.5DCX, HESX1, NDUFS4, PAFAH1B1, PAX6
8regulation of gene expressionGO:00104689.1PAX6, SOX2, TRIM44
9multicellular organism developmentGO:00072759.0ATOH7, DCX, HESX1, PAFAH1B1, PAX6, SOX2

Sources for Optic Nerve Hypoplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet