MCID: FVL006
MIFTS: 23

Foveal Hypoplasia 1

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

Aliases & Classifications for Foveal Hypoplasia 1

MalaCards integrated aliases for Foveal Hypoplasia 1:

Name: Foveal Hypoplasia 1 53 71 69
Foveal Hypoplasia and Presenile Cataract Syndrome 71 28
Fvh1 53 71
Foveal Hypoplasia 1 with or Without Anterior Segment Anomalies and/or Cataract 53
Foveal Hypoplasia with or Without Anterior Segment Anomalies and/or Cataract 71
Foveal Hypoplasia-Presenile Cataract Syndrome 55
O'donnell-Pappas Syndrome 55
O'donnell Pappas Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
foveal hypoplasia-presenile cataract syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
foveal hypoplasia 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 136520
Orphanet 55 ORPHA2253
UMLS via Orphanet 70 C2931644
ICD10 via Orphanet 33 H26.0
MeSH 41 D015785

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 and presenile cataract syndrome, is related to foveal hypoplasia 2, and has symptoms including nystagmus, cataract and optic atrophy. An important gene associated with Foveal Hypoplasia 1 is PAX6 (Paired Box 6). The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include eye.

OMIM : 53 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 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 10.9

Symptoms & Phenotypes for Foveal Hypoplasia 1

Symptoms via clinical synopsis from OMIM:

53
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:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 cataract 55 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
4 abnormality of vision 55 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
6 generalized hyperpigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007440
7 visual impairment 31 HP:0000505
8 abnormality of the eye 55 Very frequent (99-80%)
9 hypoplasia of the fovea 31 HP:0007750
10 congenital nystagmus 31 HP:0006934
11 presenile cataracts 31 HP:0007819

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 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

Genetic Tests for Foveal Hypoplasia 1

Genetic tests related to Foveal Hypoplasia 1:

# Genetic test Affiliating Genes
1 Foveal Hypoplasia and Presenile Cataract Syndrome 28 PAX6

Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

38
Eye

Publications for Foveal Hypoplasia 1

Variations for Foveal Hypoplasia 1

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

71
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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