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

Sources

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

Sources

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)

Sources

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

Sources

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

Sources

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

Sources

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

Sources

Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

⁴²

Eye

Sources

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

Sources

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

Sources

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.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.1268A> T (p.Ter423Leu)	single nucleotide variant	Pathogenic	rs121907922	GRCh37	Chromosome 11, 31811483: 31811483
4	PAX6	NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu)	single nucleotide variant	Pathogenic	rs121907922	GRCh38	Chromosome 11, 31789935: 31789935
5	PAX6	NM_000280.4(PAX6): c.10+5G> C	single nucleotide variant	Pathogenic	rs587776572	GRCh38	Chromosome 11, 31806397: 31806397
6	PAX6	NM_000280.4(PAX6): c.10+5G> C	single nucleotide variant	Pathogenic	rs587776572	GRCh37	Chromosome 11, 31827945: 31827945
7	PAX6	NM_000280.4(PAX6): c.-129+9G> A	single nucleotide variant	Benign/Likely benign	rs56139994	GRCh38	Chromosome 11, 31810819: 31810819
8	PAX6	NM_000280.4(PAX6): c.-129+9G> A	single nucleotide variant	Benign/Likely benign	rs56139994	GRCh37	Chromosome 11, 31832367: 31832367
9	PAX6	NM_001604.5(PAX6): c.808-12C> T	single nucleotide variant	Benign	rs667773	GRCh37	Chromosome 11, 31815362: 31815362
10	PAX6	NM_001604.5(PAX6): c.808-12C> T	single nucleotide variant	Benign	rs667773	GRCh38	Chromosome 11, 31793814: 31793814
11	PAX6	NM_000280.4(PAX6): c.781C> T (p.Arg261Ter)	single nucleotide variant	Pathogenic	rs886041222	GRCh38	Chromosome 11, 31793787: 31793787
12	PAX6	NM_000280.4(PAX6): c.781C> T (p.Arg261Ter)	single nucleotide variant	Pathogenic	rs886041222	GRCh37	Chromosome 11, 31815335: 31815335
13	PAX6	NM_000280.4(PAX6): c.1137A> C (p.Thr379=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143477661	GRCh37	Chromosome 11, 31812304: 31812304
14	PAX6	NM_000280.4(PAX6): c.1137A> C (p.Thr379=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143477661	GRCh38	Chromosome 11, 31790756: 31790756
15	PAX6	NM_000280.4(PAX6): c.*4627A> C	single nucleotide variant	Likely benign	rs140971065	GRCh38	Chromosome 11, 31785307: 31785307
16	PAX6	NM_000280.4(PAX6): c.*4627A> C	single nucleotide variant	Likely benign	rs140971065	GRCh37	Chromosome 11, 31806855: 31806855
17	PAX6	NM_000280.4(PAX6): c.*4076A> C	single nucleotide variant	Uncertain significance	rs886048183	GRCh38	Chromosome 11, 31785858: 31785858
18	PAX6	NM_000280.4(PAX6): c.*4076A> C	single nucleotide variant	Uncertain significance	rs886048183	GRCh37	Chromosome 11, 31807406: 31807406
19	PAX6	NM_000280.4(PAX6): c.*4003G> T	single nucleotide variant	Uncertain significance	rs886048184	GRCh37	Chromosome 11, 31807479: 31807479
20	PAX6	NM_000280.4(PAX6): c.*4003G> T	single nucleotide variant	Uncertain significance	rs886048184	GRCh38	Chromosome 11, 31785931: 31785931
21	PAX6	NM_000280.4(PAX6): c.*3318A> G	single nucleotide variant	Likely benign	rs371438311	GRCh37	Chromosome 11, 31808164: 31808164
22	PAX6	NM_000280.4(PAX6): c.*3318A> G	single nucleotide variant	Likely benign	rs371438311	GRCh38	Chromosome 11, 31786616: 31786616
23	PAX6	NM_000280.4(PAX6): c.*2901T> C	single nucleotide variant	Likely benign	rs542906080	GRCh37	Chromosome 11, 31808581: 31808581
24	PAX6	NM_000280.4(PAX6): c.*2901T> C	single nucleotide variant	Likely benign	rs542906080	GRCh38	Chromosome 11, 31787033: 31787033
25	PAX6	NM_000280.4(PAX6): c.2705_2707delAGC	deletion	Uncertain significance	rs886048189	GRCh37	Chromosome 11, 31808775: 31808777
26	PAX6	NM_000280.4(PAX6): c.2705_2707delAGC	deletion	Uncertain significance	rs886048189	GRCh38	Chromosome 11, 31787227: 31787229
27	PAX6	NM_000280.4(PAX6): c.*1521C> T	single nucleotide variant	Uncertain significance	rs886048196	GRCh38	Chromosome 11, 31788413: 31788413
28	PAX6	NM_000280.4(PAX6): c.*1521C> T	single nucleotide variant	Uncertain significance	rs886048196	GRCh37	Chromosome 11, 31809961: 31809961
29	PAX6	NM_000280.4(PAX6): c.*1394A> C	single nucleotide variant	Uncertain significance	rs776894983	GRCh38	Chromosome 11, 31788540: 31788540
30	PAX6	NM_000280.4(PAX6): c.*1394A> C	single nucleotide variant	Uncertain significance	rs776894983	GRCh37	Chromosome 11, 31810088: 31810088
31	PAX6	NM_000280.4(PAX6): c.*1287A> T	single nucleotide variant	Likely benign	rs576321279	GRCh38	Chromosome 11, 31788647: 31788647
32	PAX6	NM_000280.4(PAX6): c.*1287A> T	single nucleotide variant	Likely benign	rs576321279	GRCh37	Chromosome 11, 31810195: 31810195
33	PAX6	NM_000280.4(PAX6): c.*1184A> T	single nucleotide variant	Benign	rs1506	GRCh38	Chromosome 11, 31788750: 31788750
34	PAX6	NM_000280.4(PAX6): c.*1184A> T	single nucleotide variant	Benign	rs1506	GRCh37	Chromosome 11, 31810298: 31810298
35	PAX6	NM_000280.4(PAX6): c.*1063A> G	single nucleotide variant	Benign	rs117590302	GRCh38	Chromosome 11, 31788871: 31788871
36	PAX6	NM_000280.4(PAX6): c.*1063A> G	single nucleotide variant	Benign	rs117590302	GRCh37	Chromosome 11, 31810419: 31810419
37	PAX6	NM_000280.4(PAX6): c.327G> A (p.Glu109=)	single nucleotide variant	Benign/Likely benign	rs114384476	GRCh37	Chromosome 11, 31823139: 31823139
38	PAX6	NM_000280.4(PAX6): c.327G> A (p.Glu109=)	single nucleotide variant	Benign/Likely benign	rs114384476	GRCh38	Chromosome 11, 31801591: 31801591
39	PAX6	NM_000280.4(PAX6): c.142-8C> T	single nucleotide variant	Uncertain significance	rs886048203	GRCh37	Chromosome 11, 31823332: 31823332
40	PAX6	NM_000280.4(PAX6): c.142-8C> T	single nucleotide variant	Uncertain significance	rs886048203	GRCh38	Chromosome 11, 31801784: 31801784
41	PAX6	NM_000280.4(PAX6): c.-316-8C> G	single nucleotide variant	Likely benign	rs566281941	GRCh37	Chromosome 11, 31832571: 31832571
42	PAX6	NM_000280.4(PAX6): c.-316-8C> G	single nucleotide variant	Likely benign	rs566281941	GRCh38	Chromosome 11, 31811023: 31811023
43	PAX6	NM_000280.4(PAX6): c.*5108A> G	single nucleotide variant	Likely benign	rs146579778	GRCh38	Chromosome 11, 31784826: 31784826
44	PAX6	NM_000280.4(PAX6): c.*5108A> G	single nucleotide variant	Likely benign	rs146579778	GRCh37	Chromosome 11, 31806374: 31806374
45	PAX6	NM_000280.4(PAX6)	indel	Uncertain significance	rs886048180	GRCh38	Chromosome 11, 31785013: 31785015
46	PAX6	NM_000280.4(PAX6)	indel	Uncertain significance	rs886048180	GRCh37	Chromosome 11, 31806561: 31806563
47	PAX6	NM_000280.4(PAX6): c.*4696G> C	single nucleotide variant	Likely benign	rs180780893	GRCh38	Chromosome 11, 31785238: 31785238
48	PAX6	NM_000280.4(PAX6): c.*4696G> C	single nucleotide variant	Likely benign	rs180780893	GRCh37	Chromosome 11, 31806786: 31806786
49	PAX6	NM_000280.4(PAX6): c.*4599T> G	single nucleotide variant	Likely benign	rs185968715	GRCh38	Chromosome 11, 31785335: 31785335
50	PAX6	NM_000280.4(PAX6): c.*4599T> G	single nucleotide variant	Likely benign	rs185968715	GRCh37	Chromosome 11, 31806883: 31806883

Sources

Expression for Foveal Hypoplasia 1

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

Sources

Pathways for Foveal Hypoplasia 1

Sources

GO Terms for Foveal Hypoplasia 1

Sources

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

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