FVH1
MCID: FVL006
MIFTS: 25

Foveal Hypoplasia 1 (FVH1)

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

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:

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

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)

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

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

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

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

Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

42
Eye

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 )
2004
2
PAX6 missense mutation in isolated foveal hypoplasia. ( 8640214 )
1996

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.-430G> C single nucleotide variant Uncertain significance rs886048207 GRCh37 Chromosome 11, 31832776: 31832776
2 PAX6 NM_000280.4(PAX6): c.-430G> C single nucleotide variant Uncertain significance rs886048207 GRCh38 Chromosome 11, 31811228: 31811228
3 PAX6 NM_000280.4(PAX6): c.547G> C (p.Gly183Arg) single nucleotide variant Uncertain significance rs886048202 GRCh38 Chromosome 11, 31794765: 31794765
4 PAX6 NM_000280.4(PAX6): c.547G> C (p.Gly183Arg) single nucleotide variant Uncertain significance rs886048202 GRCh37 Chromosome 11, 31816313: 31816313
5 PAX6 NM_000280.4(PAX6): c.831G> A (p.Gln277=) single nucleotide variant Likely benign rs149053004 GRCh38 Chromosome 11, 31793737: 31793737
6 PAX6 NM_000280.4(PAX6): c.831G> A (p.Gln277=) single nucleotide variant Likely benign rs149053004 GRCh37 Chromosome 11, 31815285: 31815285
7 PAX6 NM_000280.4(PAX6): c.*107G> C single nucleotide variant Uncertain significance rs886048201 GRCh38 Chromosome 11, 31789827: 31789827
8 PAX6 NM_000280.4(PAX6): c.*107G> C single nucleotide variant Uncertain significance rs886048201 GRCh37 Chromosome 11, 31811375: 31811375
9 PAX6 NM_000280.4(PAX6): c.*356delT deletion Uncertain significance rs200391530 GRCh38 Chromosome 11, 31789578: 31789578
10 PAX6 NM_000280.4(PAX6): c.*356delT deletion Uncertain significance rs200391530 GRCh37 Chromosome 11, 31811126: 31811126
11 PAX6 NM_000280.4(PAX6): c.*357A> T single nucleotide variant Uncertain significance rs774473337 GRCh38 Chromosome 11, 31789577: 31789577
12 PAX6 NM_000280.4(PAX6): c.*357A> T single nucleotide variant Uncertain significance rs774473337 GRCh37 Chromosome 11, 31811125: 31811125
13 PAX6 NM_000280.4(PAX6): c.*417C> T single nucleotide variant Likely benign rs55756603 GRCh38 Chromosome 11, 31789517: 31789517
14 PAX6 NM_000280.4(PAX6): c.*417C> T single nucleotide variant Likely benign rs55756603 GRCh37 Chromosome 11, 31811065: 31811065
15 PAX6 NM_000280.4(PAX6): c.*841C> T single nucleotide variant Likely benign rs530931929 GRCh38 Chromosome 11, 31789093: 31789093
16 PAX6 NM_000280.4(PAX6): c.*841C> T single nucleotide variant Likely benign rs530931929 GRCh37 Chromosome 11, 31810641: 31810641
17 PAX6 NM_000280.4(PAX6): c.*2159C> T single nucleotide variant Likely benign rs3026396 GRCh37 Chromosome 11, 31809323: 31809323
18 PAX6 NM_000280.4(PAX6): c.*2159C> T single nucleotide variant Likely benign rs3026396 GRCh38 Chromosome 11, 31787775: 31787775
19 PAX6 NM_000280.4(PAX6): c.*2160G> A single nucleotide variant Benign rs12421026 GRCh37 Chromosome 11, 31809322: 31809322
20 PAX6 NM_000280.4(PAX6): c.*2160G> A single nucleotide variant Benign rs12421026 GRCh38 Chromosome 11, 31787774: 31787774
21 PAX6 NM_000280.4(PAX6): c.*2432A> G single nucleotide variant Uncertain significance rs886048192 GRCh37 Chromosome 11, 31809050: 31809050
22 PAX6 NM_000280.4(PAX6): c.*2432A> G single nucleotide variant Uncertain significance rs886048192 GRCh38 Chromosome 11, 31787502: 31787502
23 PAX6 NM_000280.4(PAX6): c.*2707C> T single nucleotide variant Benign rs3026398 GRCh38 Chromosome 11, 31787227: 31787227
24 PAX6 NM_000280.4(PAX6): c.*2707C> T single nucleotide variant Benign rs3026398 GRCh37 Chromosome 11, 31808775: 31808775
25 PAX6 NM_000280.4(PAX6): c.*2887delG deletion Uncertain significance rs886048188 GRCh38 Chromosome 11, 31787047: 31787047
26 PAX6 NM_000280.4(PAX6): c.*2887delG deletion Uncertain significance rs886048188 GRCh37 Chromosome 11, 31808595: 31808595
27 PAX6 NM_000280.4(PAX6): c.*2893_*2896dupATTT duplication Benign rs397795797 GRCh38 Chromosome 11, 31787038: 31787041
28 PAX6 NM_000280.4(PAX6): c.*2893_*2896dupATTT duplication Benign rs397795797 GRCh37 Chromosome 11, 31808586: 31808589
29 PAX6 NM_000280.4(PAX6): c.*2906A> G single nucleotide variant Uncertain significance rs886048187 GRCh38 Chromosome 11, 31787028: 31787028
30 PAX6 NM_000280.4(PAX6): c.*2906A> G single nucleotide variant Uncertain significance rs886048187 GRCh37 Chromosome 11, 31808576: 31808576
31 PAX6 NM_000280.4(PAX6): c.*3202G> A single nucleotide variant Benign rs608293 GRCh38 Chromosome 11, 31786732: 31786732
32 PAX6 NM_000280.4(PAX6): c.*3202G> A single nucleotide variant Benign rs608293 GRCh37 Chromosome 11, 31808280: 31808280
33 PAX6 NM_000280.4(PAX6): c.*3670C> T single nucleotide variant Likely benign rs149777109 GRCh38 Chromosome 11, 31786264: 31786264
34 PAX6 NM_000280.4(PAX6): c.*3670C> T single nucleotide variant Likely benign rs149777109 GRCh37 Chromosome 11, 31807812: 31807812
35 PAX6 NM_000280.4(PAX6): c.*3700_*3701delGT deletion Uncertain significance rs886048186 GRCh38 Chromosome 11, 31786233: 31786234
36 PAX6 NM_000280.4(PAX6): c.*3700_*3701delGT deletion Uncertain significance rs886048186 GRCh37 Chromosome 11, 31807781: 31807782
37 PAX6 NM_000280.4(PAX6): c.*4296G> C single nucleotide variant Benign rs16922475 GRCh37 Chromosome 11, 31807186: 31807186
38 PAX6 NM_000280.4(PAX6): c.*4296G> C single nucleotide variant Benign rs16922475 GRCh38 Chromosome 11, 31785638: 31785638
39 PAX6 NM_000280.4(PAX6): c.*4370C> G single nucleotide variant Likely benign rs183115097 GRCh37 Chromosome 11, 31807112: 31807112
40 PAX6 NM_000280.4(PAX6): c.*4370C> G single nucleotide variant Likely benign rs183115097 GRCh38 Chromosome 11, 31785564: 31785564
41 PAX6 NM_000280.4(PAX6): c.-501delG deletion Uncertain significance rs886048208 GRCh37 Chromosome 11, 31832847: 31832847
42 PAX6 NM_000280.4(PAX6): c.-501delG deletion Uncertain significance rs886048208 GRCh38 Chromosome 11, 31811299: 31811299
43 PAX6 NM_000280.4(PAX6): c.-368G> A single nucleotide variant Uncertain significance rs886048206 GRCh38 Chromosome 11, 31811166: 31811166
44 PAX6 NM_000280.4(PAX6): c.-368G> A single nucleotide variant Uncertain significance rs886048206 GRCh37 Chromosome 11, 31832714: 31832714
45 PAX6 NM_000280.4(PAX6): c.-180A> G single nucleotide variant Likely benign rs75563367 GRCh38 Chromosome 11, 31810879: 31810879
46 PAX6 NM_000280.4(PAX6): c.-180A> G single nucleotide variant Likely benign rs75563367 GRCh37 Chromosome 11, 31832427: 31832427
47 PAX6 NM_000280.4(PAX6): c.-147_-146dupGA duplication Uncertain significance rs886048205 GRCh38 Chromosome 11, 31810845: 31810846
48 PAX6 NM_000280.4(PAX6): c.-147_-146dupGA duplication Uncertain significance rs886048205 GRCh37 Chromosome 11, 31832393: 31832394
49 PAX6 NM_000280.4(PAX6): c.-59G> T single nucleotide variant Uncertain significance rs886048204 GRCh38 Chromosome 11, 31806856: 31806856
50 PAX6 NM_000280.4(PAX6): c.-59G> T single nucleotide variant Uncertain significance rs886048204 GRCh37 Chromosome 11, 31828404: 31828404

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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
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50 NCI
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55 NINDS
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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