MCID: FVL006
MIFTS: 23

Foveal Hypoplasia 1

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

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:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 136520
Orphanet 59 ORPHA2253
UMLS via Orphanet 74 C2931644
ICD10 via Orphanet 34 H26.0
MeSH 44 D015785

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 drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are strabismus 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)

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:

57
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:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
2 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
3 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
4 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
5 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
6 generalized hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007440
7 abnormality of the eye 59 Very frequent (99-80%)
8 visual impairment 32 HP:0000505
9 congenital nystagmus 32 HP:0006934
10 hypoplasia of the fovea 32 HP:0007750
11 presenile cataracts 32 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 29 PAX6

Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

41
Eye

Publications for Foveal Hypoplasia 1

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 GRCh38 Chromosome 11, 31810819: 31810819
6 PAX6 NM_000280.4(PAX6): c.-129+9G> A single nucleotide variant Benign/Likely benign rs56139994 GRCh37 Chromosome 11, 31832367: 31832367
7 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh37 Chromosome 11, 31815362: 31815362
8 PAX6 NM_001604.5(PAX6): c.808-12C> T single nucleotide variant Benign rs667773 GRCh38 Chromosome 11, 31793814: 31793814
9 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh37 Chromosome 11, 31812304: 31812304
10 PAX6 NM_000280.4(PAX6): c.1137A> C (p.Thr379=) single nucleotide variant Conflicting interpretations of pathogenicity rs143477661 GRCh38 Chromosome 11, 31790756: 31790756
11 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh37 Chromosome 11, 31806855: 31806855
12 PAX6 NM_000280.4(PAX6): c.*4627A> C single nucleotide variant Likely benign rs140971065 GRCh38 Chromosome 11, 31785307: 31785307
13 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh37 Chromosome 11, 31807406: 31807406
14 PAX6 NM_000280.4(PAX6): c.*4076A> C single nucleotide variant Uncertain significance rs886048183 GRCh38 Chromosome 11, 31785858: 31785858
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.*4003G> T single nucleotide variant Uncertain significance rs886048184 GRCh37 Chromosome 11, 31807479: 31807479
17 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh37 Chromosome 11, 31808164: 31808164
18 PAX6 NM_000280.4(PAX6): c.*3318A> G single nucleotide variant Likely benign rs371438311 GRCh38 Chromosome 11, 31786616: 31786616
19 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh37 Chromosome 11, 31808581: 31808581
20 PAX6 NM_000280.4(PAX6): c.*2901T> C single nucleotide variant Likely benign rs542906080 GRCh38 Chromosome 11, 31787033: 31787033
21 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh37 Chromosome 11, 31808775: 31808777
22 PAX6 NM_000280.4(PAX6): c.*2705_*2707delAGC deletion Uncertain significance rs886048189 GRCh38 Chromosome 11, 31787227: 31787229
23 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh37 Chromosome 11, 31809961: 31809961
24 PAX6 NM_000280.4(PAX6): c.*1521C> T single nucleotide variant Uncertain significance rs886048196 GRCh38 Chromosome 11, 31788413: 31788413
25 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh37 Chromosome 11, 31810088: 31810088
26 PAX6 NM_000280.4(PAX6): c.*1394A> C single nucleotide variant Uncertain significance rs776894983 GRCh38 Chromosome 11, 31788540: 31788540
27 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh37 Chromosome 11, 31810195: 31810195
28 PAX6 NM_000280.4(PAX6): c.*1287A> T single nucleotide variant Likely benign rs576321279 GRCh38 Chromosome 11, 31788647: 31788647
29 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh37 Chromosome 11, 31810298: 31810298
30 PAX6 NM_000280.4(PAX6): c.*1184A> T single nucleotide variant Benign rs1506 GRCh38 Chromosome 11, 31788750: 31788750
31 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh37 Chromosome 11, 31810419: 31810419
32 PAX6 NM_000280.4(PAX6): c.*1063A> G single nucleotide variant Benign rs117590302 GRCh38 Chromosome 11, 31788871: 31788871
33 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh37 Chromosome 11, 31823139: 31823139
34 PAX6 NM_000280.4(PAX6): c.327G> A (p.Glu109=) single nucleotide variant Benign/Likely benign rs114384476 GRCh38 Chromosome 11, 31801591: 31801591
35 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh37 Chromosome 11, 31823332: 31823332
36 PAX6 NM_000280.4(PAX6): c.142-8C> T single nucleotide variant Uncertain significance rs886048203 GRCh38 Chromosome 11, 31801784: 31801784
37 PAX6 NM_000280.4(PAX6): c.-316-8C> G single nucleotide variant Likely benign rs566281941 GRCh37 Chromosome 11, 31832571: 31832571
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

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

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7 CNVD
9 Cosmic
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11 DGIdb
17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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