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

FVH1 MCID: FVL006 MIFTS: 21	Foveal Hypoplasia 1 (FVH1) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases 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 ⁵⁷ ⁷⁵ ⁷³

Foveal Hypoplasia and Presenile Cataract Syndrome ⁷⁵ ²⁹ ⁶ ⁴⁰

Fvh1 ⁵⁷ ⁷⁵

Foveal Hypoplasia 1 with or Without Anterior Segment Anomalies and/or Cataract ⁵⁷

Foveal Hypoplasia with or Without Anterior Segment Anomalies and/or Cataract ⁷⁵

Foveal Hypoplasia-Presenile Cataract Syndrome ⁵⁹

O'donnell-Pappas Syndrome ⁵⁹

O'donnell Pappas Syndrome ⁷³

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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: ³⁴

Diseases of the eye and adnexa

Disorders of lens

Other cataract

Infantile, juvenile and presenile cataract

Orphanet: ⁵⁹

Rare eye diseases

External Ids:

OMIM ⁵⁷ 136520

Orphanet ⁵⁹ ORPHA2253

UMLS via Orphanet ⁷⁴ C2931644

ICD10 via Orphanet ³⁴ H26.0

MedGen ⁴² C3805604 C1850994 C2931644

MeSH ⁴⁴ D015785

SNOMED-CT via HPO ⁶⁹ 263681008 128602000 22066006 more

UMLS ⁷³ C3805604 C2931644

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Summaries for Foveal Hypoplasia 1

UniProtKB/Swiss-Prot : ⁷⁵ 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 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 : ⁵⁷ 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	foveal hypoplasia 2	11.1

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Symptoms & Phenotypes for Foveal Hypoplasia 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Clinical features from OMIM:

136520

Human phenotypes related to Foveal Hypoplasia 1:

⁵⁹ ³² (show all 11)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nystagmus ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000639
2	cataract ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000518
3	optic atrophy ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000648
4	abnormality of vision ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000504
5	strabismus ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000486
6	generalized hyperpigmentation ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0007440
7	visual impairment ³²			HP:0000505
8	abnormality of the eye ⁵⁹		Very frequent (99-80%)
9	hypoplasia of the fovea ³²			HP:0007750
10	congenital nystagmus ³²			HP:0006934
11	presenile cataracts ³²			HP:0007819

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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 ²⁹	PAX6

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Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

⁴¹

Eye

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Publications for Foveal Hypoplasia 1

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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	1677.6	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ 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:

⁷⁵

#	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 172)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	PAX6	NM_000280.4(PAX6): c.382C> T (p.Arg128Cys)	single nucleotide variant	Pathogenic	rs121907918	GRCh37	Chromosome 11, 31822380: 31822380
2	PAX6	NM_000280.4(PAX6): c.382C> T (p.Arg128Cys)	single nucleotide variant	Pathogenic	rs121907918	GRCh38	Chromosome 11, 31800832: 31800832
3	PAX6	NM_000280.4(PAX6): c.10+5G> C	single nucleotide variant	Pathogenic	rs587776572	GRCh38	Chromosome 11, 31806397: 31806397
4	PAX6	NM_000280.4(PAX6): c.10+5G> C	single nucleotide variant	Pathogenic	rs587776572	GRCh37	Chromosome 11, 31827945: 31827945
5	PAX6	NM_000280.4(PAX6): c.-129+9G> A	single nucleotide variant	Benign/Likely benign	rs56139994	GRCh37	Chromosome 11, 31832367: 31832367
6	PAX6	NM_001604.5(PAX6): c.808-12C> T	single nucleotide variant	Benign	rs667773	GRCh37	Chromosome 11, 31815362: 31815362
7	PAX6	NM_001604.5(PAX6): c.808-12C> T	single nucleotide variant	Benign	rs667773	GRCh38	Chromosome 11, 31793814: 31793814
8	PAX6	NM_000280.4(PAX6): c.1137A> C (p.Thr379=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143477661	GRCh37	Chromosome 11, 31812304: 31812304
9	PAX6	NM_000280.4(PAX6): c.1137A> C (p.Thr379=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143477661	GRCh38	Chromosome 11, 31790756: 31790756
10	PAX6	NM_000280.4(PAX6): c.*4627A> C	single nucleotide variant	Likely benign	rs140971065	GRCh37	Chromosome 11, 31806855: 31806855
11	PAX6	NM_000280.4(PAX6): c.*4627A> C	single nucleotide variant	Likely benign	rs140971065	GRCh38	Chromosome 11, 31785307: 31785307
12	PAX6	NM_000280.4(PAX6): c.*4076A> C	single nucleotide variant	Uncertain significance	rs886048183	GRCh37	Chromosome 11, 31807406: 31807406
13	PAX6	NM_000280.4(PAX6): c.*4076A> C	single nucleotide variant	Uncertain significance	rs886048183	GRCh38	Chromosome 11, 31785858: 31785858
14	PAX6	NM_000280.4(PAX6): c.*4003G> T	single nucleotide variant	Uncertain significance	rs886048184	GRCh37	Chromosome 11, 31807479: 31807479
15	PAX6	NM_000280.4(PAX6): c.*4003G> T	single nucleotide variant	Uncertain significance	rs886048184	GRCh38	Chromosome 11, 31785931: 31785931
16	PAX6	NM_000280.4(PAX6): c.*3318A> G	single nucleotide variant	Likely benign	rs371438311	GRCh37	Chromosome 11, 31808164: 31808164
17	PAX6	NM_000280.4(PAX6): c.*3318A> G	single nucleotide variant	Likely benign	rs371438311	GRCh38	Chromosome 11, 31786616: 31786616
18	PAX6	NM_000280.4(PAX6): c.*2901T> C	single nucleotide variant	Likely benign	rs542906080	GRCh37	Chromosome 11, 31808581: 31808581
19	PAX6	NM_000280.4(PAX6): c.*2901T> C	single nucleotide variant	Likely benign	rs542906080	GRCh38	Chromosome 11, 31787033: 31787033
20	PAX6	NM_000280.4(PAX6): c.2705_2707delAGC	deletion	Uncertain significance	rs886048189	GRCh37	Chromosome 11, 31808775: 31808777
21	PAX6	NM_000280.4(PAX6): c.2705_2707delAGC	deletion	Uncertain significance	rs886048189	GRCh38	Chromosome 11, 31787227: 31787229
22	PAX6	NM_000280.4(PAX6): c.*1521C> T	single nucleotide variant	Uncertain significance	rs886048196	GRCh37	Chromosome 11, 31809961: 31809961
23	PAX6	NM_000280.4(PAX6): c.*1521C> T	single nucleotide variant	Uncertain significance	rs886048196	GRCh38	Chromosome 11, 31788413: 31788413
24	PAX6	NM_000280.4(PAX6): c.*1394A> C	single nucleotide variant	Uncertain significance	rs776894983	GRCh37	Chromosome 11, 31810088: 31810088
25	PAX6	NM_000280.4(PAX6): c.*1394A> C	single nucleotide variant	Uncertain significance	rs776894983	GRCh38	Chromosome 11, 31788540: 31788540
26	PAX6	NM_000280.4(PAX6): c.*1287A> T	single nucleotide variant	Likely benign	rs576321279	GRCh37	Chromosome 11, 31810195: 31810195
27	PAX6	NM_000280.4(PAX6): c.*1287A> T	single nucleotide variant	Likely benign	rs576321279	GRCh38	Chromosome 11, 31788647: 31788647
28	PAX6	NM_000280.4(PAX6): c.*1184A> T	single nucleotide variant	Benign	rs1506	GRCh37	Chromosome 11, 31810298: 31810298
29	PAX6	NM_000280.4(PAX6): c.*1184A> T	single nucleotide variant	Benign	rs1506	GRCh38	Chromosome 11, 31788750: 31788750
30	PAX6	NM_000280.4(PAX6): c.*1063A> G	single nucleotide variant	Benign	rs117590302	GRCh37	Chromosome 11, 31810419: 31810419
31	PAX6	NM_000280.4(PAX6): c.*1063A> G	single nucleotide variant	Benign	rs117590302	GRCh38	Chromosome 11, 31788871: 31788871
32	PAX6	NM_000280.4(PAX6): c.327G> A (p.Glu109=)	single nucleotide variant	Benign/Likely benign	rs114384476	GRCh37	Chromosome 11, 31823139: 31823139
33	PAX6	NM_000280.4(PAX6): c.327G> A (p.Glu109=)	single nucleotide variant	Benign/Likely benign	rs114384476	GRCh38	Chromosome 11, 31801591: 31801591
34	PAX6	NM_000280.4(PAX6): c.142-8C> T	single nucleotide variant	Uncertain significance	rs886048203	GRCh37	Chromosome 11, 31823332: 31823332
35	PAX6	NM_000280.4(PAX6): c.142-8C> T	single nucleotide variant	Uncertain significance	rs886048203	GRCh38	Chromosome 11, 31801784: 31801784
36	PAX6	NM_000280.4(PAX6): c.-316-8C> G	single nucleotide variant	Likely benign	rs566281941	GRCh37	Chromosome 11, 31832571: 31832571
37	PAX6	NM_000280.4(PAX6): c.-129+9G> A	single nucleotide variant	Benign/Likely benign	rs56139994	GRCh38	Chromosome 11, 31810819: 31810819
38	PAX6	NM_000280.4(PAX6): c.-316-8C> G	single nucleotide variant	Likely benign	rs566281941	GRCh38	Chromosome 11, 31811023: 31811023
39	PAX6	NM_000280.4(PAX6): c.*5108A> G	single nucleotide variant	Likely benign	rs146579778	GRCh37	Chromosome 11, 31806374: 31806374
40	PAX6	NM_000280.4(PAX6): c.*5108A> G	single nucleotide variant	Likely benign	rs146579778	GRCh38	Chromosome 11, 31784826: 31784826
41	PAX6	NM_000280.4(PAX6)	indel	Uncertain significance	rs886048180	GRCh37	Chromosome 11, 31806561: 31806563
42	PAX6	NM_000280.4(PAX6)	indel	Uncertain significance	rs886048180	GRCh38	Chromosome 11, 31785013: 31785015
43	PAX6	NM_000280.4(PAX6): c.*4696G> C	single nucleotide variant	Likely benign	rs180780893	GRCh37	Chromosome 11, 31806786: 31806786
44	PAX6	NM_000280.4(PAX6): c.*4696G> C	single nucleotide variant	Likely benign	rs180780893	GRCh38	Chromosome 11, 31785238: 31785238
45	PAX6	NM_000280.4(PAX6): c.*4599T> G	single nucleotide variant	Likely benign	rs185968715	GRCh37	Chromosome 11, 31806883: 31806883
46	PAX6	NM_000280.4(PAX6): c.*4599T> G	single nucleotide variant	Likely benign	rs185968715	GRCh38	Chromosome 11, 31785335: 31785335
47	PAX6	NM_000280.4(PAX6): c.*4361T> C	single nucleotide variant	Uncertain significance	rs886048181	GRCh37	Chromosome 11, 31807121: 31807121
48	PAX6	NM_000280.4(PAX6): c.*4361T> C	single nucleotide variant	Uncertain significance	rs886048181	GRCh38	Chromosome 11, 31785573: 31785573
49	PAX6	NM_000280.4(PAX6): c.*3958G> A	single nucleotide variant	Benign	rs3026401	GRCh37	Chromosome 11, 31807524: 31807524
50	PAX6	NM_000280.4(PAX6): c.*3958G> A	single nucleotide variant	Benign	rs3026401	GRCh38	Chromosome 11, 31785976: 31785976

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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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Foveal Hypoplasia 1:

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

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