MCID: FVL006
MIFTS: 22

Foveal Hypoplasia 1

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Foveal Hypoplasia 1

MalaCards integrated aliases for Foveal Hypoplasia 1:

Name: Foveal Hypoplasia 1 54 71 69
Foveal Hypoplasia with or Without Anterior Segment Anomalies and/or Cataract 71
Foveal Hypoplasia and Presenile Cataract Syndrome 71
Foveal Hypoplasia-Presenile Cataract Syndrome 56
O'donnell-Pappas Syndrome 56
O'donnell Pappas Syndrome 69
Fvh1 71

Characteristics:

Orphanet epidemiological data:

56
foveal hypoplasia-presenile cataract syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
foveal hypoplasia 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare eye diseases


Summaries for Foveal Hypoplasia 1

UniProtKB/Swiss-Prot : 71 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 with or without anterior segment anomalies and/or cataract, is related to o donnell pappas syndrome and foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, and has symptoms including optic atrophy, nystagmus and strabismus. An important gene associated with Foveal Hypoplasia 1 is PAX6 (Paired Box 6). The drugs Vaccines and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye.

OMIM : 54
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)

Related Diseases for Foveal Hypoplasia 1

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

id Related Disease Score Top Affiliating Genes
1 o donnell pappas syndrome 11.4
2 foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis 10.8

Symptoms & Phenotypes for Foveal Hypoplasia 1

Symptoms via clinical synopsis from OMIM:

54

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


Clinical features from OMIM:

136520

Human phenotypes related to Foveal Hypoplasia 1:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000648
2 nystagmus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000639
3 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
4 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
5 abnormality of vision 56 32 hallmark (90%) Very frequent (99-80%) HP:0000504
6 generalized hyperpigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007440
7 visual impairment 32 HP:0000505
8 presenile cataracts 32 HP:0007819
9 congenital nystagmus 32 HP:0006934
10 abnormality of the eye 56 Very frequent (99-80%)
11 hypoplasia of the fovea 32 HP:0007750

Drugs & Therapeutics for Foveal Hypoplasia 1

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1
2 Ophthalmic Solutions Phase 1
3 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 DNA-based Influenza Vaccine in the Elderly Completed NCT01587131 Phase 1
2 Spectral Domain Optical Coherence Tomography Imaging of the Eyes of Neonates Completed NCT01404247 Phase 1

Search NIH Clinical Center for Foveal Hypoplasia 1

Genetic Tests for Foveal Hypoplasia 1

Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

39
Eye

Publications for Foveal Hypoplasia 1

Variations for Foveal Hypoplasia 1

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

71
id 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
id 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.10+5G> C single nucleotide variant Pathogenic rs587776572 GRCh38 Chromosome 11, 31806397: 31806397

Expression for Foveal Hypoplasia 1

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

Pathways for Foveal Hypoplasia 1

GO Terms for Foveal Hypoplasia 1

Sources for Foveal Hypoplasia 1

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
Content
Loading form....