FVH1
MCID: FVL006
MIFTS: 33

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 57 72 70
Foveal Hypoplasia and Presenile Cataract Syndrome 72 29 6 39
Fvh1 57 72
Foveal Hypoplasia 1 with or Without Anterior Segment Anomalies and/or Cataract 57
Foveal Hypoplasia with or Without Anterior Segment Anomalies and/or Cataract 72
Foveal Hypoplasia-Presenile Cataract Syndrome 58
O'donnell-Pappas Syndrome 58
O'donnell Pappas Syndrome 70

Characteristics:

Orphanet epidemiological data:

58
foveal hypoplasia-presenile cataract syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
foveal hypoplasia 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 136520
OMIM Phenotypic Series 57 PS136520
MeSH 44 D015785
ICD10 via Orphanet 33 H26.0
UMLS via Orphanet 71 C2931644
Orphanet 58 ORPHA2253
UMLS 70 C2931644 C3805604

Summaries for Foveal Hypoplasia 1

UniProtKB/Swiss-Prot : 72 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), and among its related pathways/superpathways is Mesodermal Commitment Pathway. The drug Vaccines has been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are nystagmus 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) (Updated 20-May-2021)

Related Diseases for Foveal Hypoplasia 1

Graphical network of the top 20 diseases related to Foveal Hypoplasia 1:



Diseases related to Foveal Hypoplasia 1

Symptoms & Phenotypes for Foveal Hypoplasia 1

Human phenotypes related to Foveal Hypoplasia 1:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
4 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 generalized hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007440
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 visual impairment 31 HP:0000505
8 abnormality of the eye 58 Very frequent (99-80%)
9 hypoplasia of the fovea 31 HP:0007750
10 congenital nystagmus 31 HP:0006934
11 presenile cataracts 31 HP:0007819

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
congenital nystagmus
foveal hypoplasia
presenile cataract
subnormal visual acuity
peripheral corneal pannus

Clinical features from OMIM®:

136520 (Updated 20-May-2021)

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 Phase I, Open Label Study of a DNA Vaccine's Ability to Increase the Immune Response to the Trivalent Seasonal 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:

40
Eye

Publications for Foveal Hypoplasia 1

Articles related to Foveal Hypoplasia 1:

(show all 11)
# Title Authors PMID Year
1
Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia. 57 6
15629294 2004
2
PAX6 missense mutation in isolated foveal hypoplasia. 57 6
8640214 1996
3
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. 57
24045842 2014
4
Optical coherence tomography in the diagnosis of foveal hypoplasia. 57
12427081 2002
5
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. 57
9931324 1999
6
Isolated foveal hypoplasia. 57
3427001 1987
7
Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome. 57
7065945 1982
8
Isolated foveal hypoplasia. 57
1247409 1976
9
Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations. 61
32857266 2020
10
The recombinant anti-TNF-α fusion protein ameliorates rheumatoid arthritis by the protective role of autophagy. 61
32880389 2020
11
A gene encoding a hydrophobin, fvh1, is specifically expressed after the induction of fruiting in the edible mushroom Flammulina velutipes. 61
11409181 2001

Variations for Foveal Hypoplasia 1

ClinVar genetic disease variations for Foveal Hypoplasia 1:

6 (show top 50) (show all 131)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX6 NM_000280.4(PAX6):c.10+5G>C SNV Pathogenic 3479 rs587776572 GRCh37: 11:31827945-31827945
GRCh38: 11:31806397-31806397
2 PAX6 NM_000280.4(PAX6):c.382C>T (p.Arg128Cys) SNV Pathogenic 3470 rs121907918 GRCh37: 11:31822380-31822380
GRCh38: 11:31800832-31800832
3 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
4 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
5 PAX6 NM_000280.4(PAX6):c.112C>G (p.Arg38Gly) SNV Likely pathogenic 637045 rs397514640 GRCh37: 11:31824281-31824281
GRCh38: 11:31802733-31802733
6 PAX6 NM_000280.4(PAX6):c.214G>C (p.Gly72Arg) SNV Likely pathogenic 800413 rs759557055 GRCh37: 11:31823252-31823252
GRCh38: 11:31801704-31801704
7 ELP4 , PAX6 NM_019040.5(ELP4):c.*6067del Deletion Uncertain significance 304349 rs200391530 GRCh37: 11:31811126-31811126
GRCh38: 11:31789578-31789578
8 PAX6 , ELP4 NM_019040.5(ELP4):c.*2502G>A SNV Uncertain significance 304302 rs886048185 GRCh37: 11:31807574-31807574
GRCh38: 11:31786026-31786026
9 LOC106014249 , PAX6 NM_000280.4(PAX6):c.-430G>C SNV Uncertain significance 304367 rs886048207 GRCh37: 11:31832776-31832776
GRCh38: 11:31811228-31811228
10 PAX6 , ELP4 NM_019040.5(ELP4):c.*2049A>G SNV Uncertain significance 304296 rs886048181 GRCh37: 11:31807121-31807121
GRCh38: 11:31785573-31785573
11 ELP4 , PAX6 NM_019040.5(ELP4):c.*6303C>G SNV Uncertain significance 304355 rs886048201 GRCh37: 11:31811375-31811375
GRCh38: 11:31789827-31789827
12 PAX6 , ELP4 NM_019040.5(ELP4):c.*4806T>A SNV Uncertain significance 304336 rs189545730 GRCh37: 11:31809878-31809878
GRCh38: 11:31788330-31788330
13 LOC106014249 , PAX6 NM_000280.4(PAX6):c.-501del Deletion Uncertain significance 304368 rs886048208 GRCh37: 11:31832847-31832847
GRCh38: 11:31811299-31811299
14 ELP4 , PAX6 NM_019040.5(ELP4):c.*6075A>G SNV Uncertain significance 304351 rs766518284 GRCh37: 11:31811147-31811147
GRCh38: 11:31789599-31789599
15 PAX6 , ELP4 NM_019040.5(ELP4):c.*5123T>A SNV Uncertain significance 304340 rs576321279 GRCh37: 11:31810195-31810195
GRCh38: 11:31788647-31788647
16 PAX6 , ELP4 NM_019040.5(ELP4):c.*4889G>A SNV Uncertain significance 304337 rs886048196 GRCh37: 11:31809961-31809961
GRCh38: 11:31788413-31788413
17 PAX6 , ELP4 NM_019040.5(ELP4):c.*3703_*3705del Deletion Uncertain significance 304320 rs886048189 GRCh37: 11:31808775-31808777
GRCh38: 11:31787227-31787229
18 PAX6 , ELP4 NM_019040.5(ELP4):c.*3859G>A SNV Uncertain significance 304323 rs886048190 GRCh37: 11:31808931-31808931
GRCh38: 11:31787383-31787383
19 PAX6 , ELP4 NM_019040.5(ELP4):c.*2710_*2711CA[2] Microsatellite Uncertain significance 304306 rs886048186 GRCh37: 11:31807781-31807782
GRCh38: 11:31786233-31786234
20 LOC106014249 , PAX6 NM_000280.4(PAX6):c.-507T>C SNV Uncertain significance 304369 rs886048209 GRCh37: 11:31832853-31832853
GRCh38: 11:31811305-31811305
21 PAX6 , ELP4 NM_019040.5(ELP4):c.*4023C>A SNV Uncertain significance 304330 rs886048194 GRCh37: 11:31809095-31809095
GRCh38: 11:31787547-31787547
22 ELP4 , PAX6 NM_019040.5(ELP4):c.*6203C>T SNV Uncertain significance 304353 rs886048199 GRCh37: 11:31811275-31811275
GRCh38: 11:31789727-31789727
23 PAX6 , ELP4 NM_019040.5(ELP4):c.*3978T>C SNV Uncertain significance 304326 rs886048192 GRCh37: 11:31809050-31809050
GRCh38: 11:31787502-31787502
24 PAX6 NM_000280.4(PAX6):c.547G>C (p.Gly183Arg) SNV Uncertain significance 304358 rs886048202 GRCh37: 11:31816313-31816313
GRCh38: 11:31794765-31794765
25 PAX6 NM_000280.4(PAX6):c.142-8C>T SNV Uncertain significance 304360 rs886048203 GRCh37: 11:31823332-31823332
GRCh38: 11:31801784-31801784
26 PAX6 NM_000280.4(PAX6):c.-59G>T SNV Uncertain significance 304361 rs886048204 GRCh37: 11:31828404-31828404
GRCh38: 11:31806856-31806856
27 PAX6 , ELP4 NM_019040.5(ELP4):c.*3523del Deletion Uncertain significance 304318 rs886048188 GRCh37: 11:31808595-31808595
GRCh38: 11:31787047-31787047
28 PAX6 , ELP4 NM_019040.5(ELP4):c.*3504T>C SNV Uncertain significance 304315 rs886048187 GRCh37: 11:31808576-31808576
GRCh38: 11:31787028-31787028
29 PAX6 , ELP4 NM_019040.5(ELP4):c.*3920C>T SNV Uncertain significance 304325 rs886048191 GRCh37: 11:31808992-31808992
GRCh38: 11:31787444-31787444
30 ELP4 , PAX6 NM_019040.5(ELP4):c.*6227dup Duplication Uncertain significance 304354 rs886048200 GRCh37: 11:31811298-31811299
GRCh38: 11:31789750-31789751
31 PAX6 , ELP4 NM_019040.5(ELP4):c.*3383C>T SNV Uncertain significance 304312 rs541022955 GRCh37: 11:31808455-31808455
GRCh38: 11:31786907-31786907
32 ELP4 , PAX6 NM_019040.5(ELP4):c.*6053T>A SNV Uncertain significance 304348 rs774473337 GRCh37: 11:31811125-31811125
GRCh38: 11:31789577-31789577
33 PAX6 , ELP4 NM_019040.5(ELP4):c.*1877A>G SNV Uncertain significance 304294 rs745626044 GRCh37: 11:31806949-31806949
GRCh38: 11:31785401-31785401
34 ELP4 , PAX6 NM_019040.5(ELP4):c.*6184A>G SNV Uncertain significance 304352 rs753595935 GRCh37: 11:31811256-31811256
GRCh38: 11:31789708-31789708
35 PAX6 , ELP4 NM_019040.5(ELP4):c.*2334T>G SNV Uncertain significance 304299 rs886048183 GRCh37: 11:31807406-31807406
GRCh38: 11:31785858-31785858
36 PAX6 , ELP4 NM_019040.5(ELP4):c.*5471T>C SNV Uncertain significance 304344 rs886048198 GRCh37: 11:31810543-31810543
GRCh38: 11:31788995-31788995
37 PAX6 , ELP4 NM_019040.5(ELP4):c.*4017A>G SNV Uncertain significance 304329 rs886048193 GRCh37: 11:31809089-31809089
GRCh38: 11:31787541-31787541
38 PAX6 , ELP4 NM_019040.5(ELP4):c.*2282G>A SNV Uncertain significance 304298 rs886048182 GRCh37: 11:31807354-31807354
GRCh38: 11:31785806-31785806
39 PAX6 , ELP4 NM_019040.5(ELP4):c.*5016T>G SNV Uncertain significance 304339 rs776894983 GRCh37: 11:31810088-31810088
GRCh38: 11:31788540-31788540
40 PAX6 , ELP4 NM_019040.5(ELP4):c.*2407C>A SNV Uncertain significance 304300 rs886048184 GRCh37: 11:31807479-31807479
GRCh38: 11:31785931-31785931
41 PAX6 NM_000280.4(PAX6):c.-147_-146dup Duplication Uncertain significance 304363 rs886048205 GRCh37: 11:31832392-31832393
GRCh38: 11:31810844-31810845
42 PAX6 , ELP4 NM_019040.5(ELP4):c.*4251G>A SNV Uncertain significance 304335 rs3026396 GRCh37: 11:31809323-31809323
GRCh38: 11:31787775-31787775
43 ELP4 , PAX6 NM_019040.5(ELP4):c.*6054A>T SNV Uncertain significance 304350 rs774392481 GRCh37: 11:31811126-31811126
GRCh38: 11:31789578-31789578
44 LOC106014249 , PAX6 NM_000280.4(PAX6):c.-368G>A SNV Uncertain significance 304366 rs886048206 GRCh37: 11:31832714-31832714
GRCh38: 11:31811166-31811166
45 PAX6 , ELP4 NM_019040.5(ELP4):c.*5357A>G SNV Uncertain significance 304343 rs886048197 GRCh37: 11:31810429-31810429
GRCh38: 11:31788881-31788881
46 PAX6 , ELP4 NM_019040.5(ELP4):c.*4323G>T SNV Uncertain significance 878980 GRCh37: 11:31809395-31809395
GRCh38: 11:31787847-31787847
47 PAX6 NM_001368894.2(PAX6):c.690C>T (p.Ser230=) SNV Uncertain significance 878681 GRCh37: 11:31816212-31816212
GRCh38: 11:31794664-31794664
48 PAX6 NM_001368894.2(PAX6):c.219G>A (p.Arg73=) SNV Uncertain significance 878737 GRCh37: 11:31823289-31823289
GRCh38: 11:31801741-31801741
49 PAX6 , ELP4 NM_019040.5(ELP4):c.*3772G>C SNV Uncertain significance 878295 GRCh37: 11:31808844-31808844
GRCh38: 11:31787296-31787296
50 PAX6 , ELP4 NM_019040.5(ELP4):c.*4571A>G SNV Uncertain significance 877418 GRCh37: 11:31809643-31809643
GRCh38: 11:31788095-31788095

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

72
# Symbol AA change Variation ID SNP ID
1 PAX6 p.Arg128Cys VAR_003814 rs121907918
2 PAX6 p.Arg125Cys VAR_017541

Expression for Foveal Hypoplasia 1

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

Pathways for Foveal Hypoplasia 1

Pathways related to Foveal Hypoplasia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.1 PAX6 ELP4

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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