Foveal Hypoplasia 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FVH1 MCID: FVL006 MIFTS: 25	Foveal Hypoplasia 1 (FVH1) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Foveal Hypoplasia 1

MalaCards integrated aliases for Foveal Hypoplasia 1:

Name: Foveal Hypoplasia 1 ⁵⁸ ⁷⁶ ⁷⁴

Foveal Hypoplasia and Presenile Cataract Syndrome ⁷⁶ ³⁰ ⁶ ⁴¹

Fvh1 ⁵⁸ ⁷⁶

Foveal Hypoplasia 1 with or Without Anterior Segment Anomalies and/or Cataract ⁵⁸

Foveal Hypoplasia with or Without Anterior Segment Anomalies and/or Cataract ⁷⁶

Foveal Hypoplasia-Presenile Cataract Syndrome ⁶⁰

O'donnell-Pappas Syndrome ⁶⁰

O'donnell Pappas Syndrome ⁷⁴

Characteristics:

Orphanet epidemiological data:

⁶⁰

foveal hypoplasia-presenile cataract syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

foveal hypoplasia 1:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the eye and adnexa

Disorders of lens

Other cataract

Infantile, juvenile and presenile cataract

Orphanet: ⁶⁰

Rare eye diseases

External Ids:

OMIM ⁵⁸ 136520

MeSH ⁴⁵ D015785

ICD10 via Orphanet ³⁵ H26.0

UMLS via Orphanet ⁷⁵ C2931644

Orphanet ⁶⁰ ORPHA2253

MedGen ⁴³ C1850994 C2931644 C3805604

SNOMED-CT via HPO ⁷⁰ 128306009 128602000 193570009 more

UMLS ⁷⁴ C2931644 C3805604

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Summaries for Foveal Hypoplasia 1

UniProtKB/Swiss-Prot : ⁷⁶ Foveal hypoplasia 1: An isolated form of foveal hypoplasia, a developmental defect of the eye defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Clinical features include absence of foveal pit on optical coherence tomography, absence of foveal hyperpigmentation, absence of foveal avascularity, absence of foveal and macular reflexes, decreased visual acuity, and nystagmus. Anterior segment anomalies and cataract are observed in some FVH1 patients.

MalaCards based summary : Foveal Hypoplasia 1, also known as foveal hypoplasia and presenile cataract syndrome, is related to o donnell pappas syndrome and foveal hypoplasia 2. An important gene associated with Foveal Hypoplasia 1 is PAX6 (Paired Box 6). The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are nystagmus and cataract

OMIM : ⁵⁸ Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). (136520)

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Related Diseases for Foveal Hypoplasia 1

Diseases in the Foveal Hypoplasia 1 family:

Foveal Hypoplasia 2

Diseases related to Foveal Hypoplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	o donnell pappas syndrome	11.5
2	foveal hypoplasia 2	11.1

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Symptoms & Phenotypes for Foveal Hypoplasia 1

Human phenotypes related to Foveal Hypoplasia 1:

⁶⁰ ³³ (show all 11)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nystagmus ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000639
2	cataract ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000518
3	optic atrophy ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000648
4	abnormality of vision ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000504
5	generalized hyperpigmentation ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0007440
6	strabismus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000486
7	visual impairment ³³			HP:0000505
8	abnormality of the eye ⁶⁰		Very frequent (99-80%)
9	hypoplasia of the fovea ³³			HP:0007750
10	congenital nystagmus ³³			HP:0006934
11	presenile cataracts ³³			HP:0007819

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
congenital nystagmus
foveal hypoplasia
presenile cataract
subnormal visual acuity
peripheral corneal pannus

Clinical features from OMIM:

136520

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Drugs & Therapeutics for Foveal Hypoplasia 1

Drugs for Foveal Hypoplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#	Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1	Immunologic Factors		Phase 1
2	Vaccines		Phase 1

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	DNA-based Influenza Vaccine in the Elderly	Completed	NCT01587131	Phase 1

Search NIH Clinical Center for Foveal Hypoplasia 1

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Genetic Tests for Foveal Hypoplasia 1

Genetic tests related to Foveal Hypoplasia 1:

#	Genetic test	Affiliating Genes
1	Foveal Hypoplasia and Presenile Cataract Syndrome ³⁰	PAX6

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Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

⁴²

Eye

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Publications for Foveal Hypoplasia 1

Articles related to Foveal Hypoplasia 1:

#	Title	Authors	Year
1	Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia. ( 15629294 )	Vincent MC...Dollfus H	2004
2	PAX6 missense mutation in isolated foveal hypoplasia. ( 8640214 )	Azuma N...Yamada M	1996

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Genes for Foveal Hypoplasia 1

Genes related to Foveal Hypoplasia 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PAX6	Paired Box 6	Protein Coding	1677.59	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	8640214 15629294

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Variations for Foveal Hypoplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Foveal Hypoplasia 1:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	PAX6	p.Arg128Cys	VAR_003814	rs121907918
2	PAX6	p.Arg125Cys	VAR_017541

ClinVar genetic disease variations for Foveal Hypoplasia 1:

⁶ (show top 50) (show all 176)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PAX6	NM_000280.4(PAX6): c.-430G> C	single nucleotide variant	Uncertain significance	rs886048207	GRCh37	Chromosome 11, 31832776: 31832776
2	PAX6	NM_000280.4(PAX6): c.-430G> C	single nucleotide variant	Uncertain significance	rs886048207	GRCh38	Chromosome 11, 31811228: 31811228
3	PAX6	NM_000280.4(PAX6): c.547G> C (p.Gly183Arg)	single nucleotide variant	Uncertain significance	rs886048202	GRCh38	Chromosome 11, 31794765: 31794765
4	PAX6	NM_000280.4(PAX6): c.547G> C (p.Gly183Arg)	single nucleotide variant	Uncertain significance	rs886048202	GRCh37	Chromosome 11, 31816313: 31816313
5	PAX6	NM_000280.4(PAX6): c.831G> A (p.Gln277=)	single nucleotide variant	Likely benign	rs149053004	GRCh38	Chromosome 11, 31793737: 31793737
6	PAX6	NM_000280.4(PAX6): c.831G> A (p.Gln277=)	single nucleotide variant	Likely benign	rs149053004	GRCh37	Chromosome 11, 31815285: 31815285
7	PAX6	NM_000280.4(PAX6): c.*107G> C	single nucleotide variant	Uncertain significance	rs886048201	GRCh38	Chromosome 11, 31789827: 31789827
8	PAX6	NM_000280.4(PAX6): c.*107G> C	single nucleotide variant	Uncertain significance	rs886048201	GRCh37	Chromosome 11, 31811375: 31811375
9	PAX6	NM_000280.4(PAX6): c.*356delT	deletion	Uncertain significance	rs200391530	GRCh38	Chromosome 11, 31789578: 31789578
10	PAX6	NM_000280.4(PAX6): c.*356delT	deletion	Uncertain significance	rs200391530	GRCh37	Chromosome 11, 31811126: 31811126
11	PAX6	NM_000280.4(PAX6): c.*357A> T	single nucleotide variant	Uncertain significance	rs774473337	GRCh38	Chromosome 11, 31789577: 31789577
12	PAX6	NM_000280.4(PAX6): c.*357A> T	single nucleotide variant	Uncertain significance	rs774473337	GRCh37	Chromosome 11, 31811125: 31811125
13	PAX6	NM_000280.4(PAX6): c.*417C> T	single nucleotide variant	Likely benign	rs55756603	GRCh38	Chromosome 11, 31789517: 31789517
14	PAX6	NM_000280.4(PAX6): c.*417C> T	single nucleotide variant	Likely benign	rs55756603	GRCh37	Chromosome 11, 31811065: 31811065
15	PAX6	NM_000280.4(PAX6): c.*841C> T	single nucleotide variant	Likely benign	rs530931929	GRCh38	Chromosome 11, 31789093: 31789093
16	PAX6	NM_000280.4(PAX6): c.*841C> T	single nucleotide variant	Likely benign	rs530931929	GRCh37	Chromosome 11, 31810641: 31810641
17	PAX6	NM_000280.4(PAX6): c.*2159C> T	single nucleotide variant	Likely benign	rs3026396	GRCh37	Chromosome 11, 31809323: 31809323
18	PAX6	NM_000280.4(PAX6): c.*2159C> T	single nucleotide variant	Likely benign	rs3026396	GRCh38	Chromosome 11, 31787775: 31787775
19	PAX6	NM_000280.4(PAX6): c.*2160G> A	single nucleotide variant	Benign	rs12421026	GRCh37	Chromosome 11, 31809322: 31809322
20	PAX6	NM_000280.4(PAX6): c.*2160G> A	single nucleotide variant	Benign	rs12421026	GRCh38	Chromosome 11, 31787774: 31787774
21	PAX6	NM_000280.4(PAX6): c.*2432A> G	single nucleotide variant	Uncertain significance	rs886048192	GRCh37	Chromosome 11, 31809050: 31809050
22	PAX6	NM_000280.4(PAX6): c.*2432A> G	single nucleotide variant	Uncertain significance	rs886048192	GRCh38	Chromosome 11, 31787502: 31787502
23	PAX6	NM_000280.4(PAX6): c.*2707C> T	single nucleotide variant	Benign	rs3026398	GRCh38	Chromosome 11, 31787227: 31787227
24	PAX6	NM_000280.4(PAX6): c.*2707C> T	single nucleotide variant	Benign	rs3026398	GRCh37	Chromosome 11, 31808775: 31808775
25	PAX6	NM_000280.4(PAX6): c.*2887delG	deletion	Uncertain significance	rs886048188	GRCh38	Chromosome 11, 31787047: 31787047
26	PAX6	NM_000280.4(PAX6): c.*2887delG	deletion	Uncertain significance	rs886048188	GRCh37	Chromosome 11, 31808595: 31808595
27	PAX6	NM_000280.4(PAX6): c.2893_2896dupATTT	duplication	Benign	rs397795797	GRCh38	Chromosome 11, 31787038: 31787041
28	PAX6	NM_000280.4(PAX6): c.2893_2896dupATTT	duplication	Benign	rs397795797	GRCh37	Chromosome 11, 31808586: 31808589
29	PAX6	NM_000280.4(PAX6): c.*2906A> G	single nucleotide variant	Uncertain significance	rs886048187	GRCh38	Chromosome 11, 31787028: 31787028
30	PAX6	NM_000280.4(PAX6): c.*2906A> G	single nucleotide variant	Uncertain significance	rs886048187	GRCh37	Chromosome 11, 31808576: 31808576
31	PAX6	NM_000280.4(PAX6): c.*3202G> A	single nucleotide variant	Benign	rs608293	GRCh38	Chromosome 11, 31786732: 31786732
32	PAX6	NM_000280.4(PAX6): c.*3202G> A	single nucleotide variant	Benign	rs608293	GRCh37	Chromosome 11, 31808280: 31808280
33	PAX6	NM_000280.4(PAX6): c.*3670C> T	single nucleotide variant	Likely benign	rs149777109	GRCh38	Chromosome 11, 31786264: 31786264
34	PAX6	NM_000280.4(PAX6): c.*3670C> T	single nucleotide variant	Likely benign	rs149777109	GRCh37	Chromosome 11, 31807812: 31807812
35	PAX6	NM_000280.4(PAX6): c.3700_3701delGT	deletion	Uncertain significance	rs886048186	GRCh38	Chromosome 11, 31786233: 31786234
36	PAX6	NM_000280.4(PAX6): c.3700_3701delGT	deletion	Uncertain significance	rs886048186	GRCh37	Chromosome 11, 31807781: 31807782
37	PAX6	NM_000280.4(PAX6): c.*4296G> C	single nucleotide variant	Benign	rs16922475	GRCh37	Chromosome 11, 31807186: 31807186
38	PAX6	NM_000280.4(PAX6): c.*4296G> C	single nucleotide variant	Benign	rs16922475	GRCh38	Chromosome 11, 31785638: 31785638
39	PAX6	NM_000280.4(PAX6): c.*4370C> G	single nucleotide variant	Likely benign	rs183115097	GRCh37	Chromosome 11, 31807112: 31807112
40	PAX6	NM_000280.4(PAX6): c.*4370C> G	single nucleotide variant	Likely benign	rs183115097	GRCh38	Chromosome 11, 31785564: 31785564
41	PAX6	NM_000280.4(PAX6): c.-501delG	deletion	Uncertain significance	rs886048208	GRCh37	Chromosome 11, 31832847: 31832847
42	PAX6	NM_000280.4(PAX6): c.-501delG	deletion	Uncertain significance	rs886048208	GRCh38	Chromosome 11, 31811299: 31811299
43	PAX6	NM_000280.4(PAX6): c.-368G> A	single nucleotide variant	Uncertain significance	rs886048206	GRCh38	Chromosome 11, 31811166: 31811166
44	PAX6	NM_000280.4(PAX6): c.-368G> A	single nucleotide variant	Uncertain significance	rs886048206	GRCh37	Chromosome 11, 31832714: 31832714
45	PAX6	NM_000280.4(PAX6): c.-180A> G	single nucleotide variant	Likely benign	rs75563367	GRCh38	Chromosome 11, 31810879: 31810879
46	PAX6	NM_000280.4(PAX6): c.-180A> G	single nucleotide variant	Likely benign	rs75563367	GRCh37	Chromosome 11, 31832427: 31832427
47	PAX6	NM_000280.4(PAX6): c.-147_-146dupGA	duplication	Uncertain significance	rs886048205	GRCh38	Chromosome 11, 31810845: 31810846
48	PAX6	NM_000280.4(PAX6): c.-147_-146dupGA	duplication	Uncertain significance	rs886048205	GRCh37	Chromosome 11, 31832393: 31832394
49	PAX6	NM_000280.4(PAX6): c.-59G> T	single nucleotide variant	Uncertain significance	rs886048204	GRCh38	Chromosome 11, 31806856: 31806856
50	PAX6	NM_000280.4(PAX6): c.-59G> T	single nucleotide variant	Uncertain significance	rs886048204	GRCh37	Chromosome 11, 31828404: 31828404

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Expression for Foveal Hypoplasia 1

Search GEO for disease gene expression data for Foveal Hypoplasia 1.

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Pathways for Foveal Hypoplasia 1

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GO Terms for Foveal Hypoplasia 1

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Sources for Foveal Hypoplasia 1

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³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Foveal Hypoplasia 1 (FVH1)

Aliases & Classifications for Foveal Hypoplasia 1

MalaCards integrated aliases for Foveal Hypoplasia 1:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Foveal Hypoplasia 1

Related Diseases for Foveal Hypoplasia 1

Diseases in the Foveal Hypoplasia 1 family:

Diseases related to Foveal Hypoplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Foveal Hypoplasia 1

Human phenotypes related to Foveal Hypoplasia 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Foveal Hypoplasia 1

Drugs for Foveal Hypoplasia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Foveal Hypoplasia 1

Genetic tests related to Foveal Hypoplasia 1:

Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

Publications for Foveal Hypoplasia 1

Articles related to Foveal Hypoplasia 1:

Genes for Foveal Hypoplasia 1

Genes related to Foveal Hypoplasia 1 (1 elite genes):

Variations for Foveal Hypoplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Foveal Hypoplasia 1:

ClinVar genetic disease variations for Foveal Hypoplasia 1:

Expression for Foveal Hypoplasia 1

Pathways for Foveal Hypoplasia 1

GO Terms for Foveal Hypoplasia 1

Sources for Foveal Hypoplasia 1