Foveal Hypoplasia 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

FVH1 MCID: FVL006 MIFTS: 33	Foveal Hypoplasia 1 (FVH1) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the eye and adnexa

Disorders of lens

Other cataract

Infantile, juvenile and presenile cataract

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

MedGen ⁴¹ C1850994 C2931644 C3805604

SNOMED-CT via HPO ⁶⁸ 128306009 128602000 193570009 more

UMLS ⁷⁰ C2931644 C3805604

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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)

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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:

(show all 22)

#	Related Disease	Score	Top Affiliating Genes
1	o donnell pappas syndrome	11.3
2	foveal hypoplasia 2	10.9
3	aniridia 2	9.8	PAX6 ELP4
4	hereditary wilms' tumor	9.8	PAX6 ELP4
5	isolated aniridia	9.8	PAX6 ELP4
6	anterior segment dysgenesis 5	9.8	PAX6 ELP4
7	coloboma of optic nerve	9.8	PAX6 ELP4
8	coloboma, ocular, autosomal dominant	9.8	PAX6 ELP4
9	iris disease	9.8	PAX6 ELP4
10	aland island eye disease	9.8	PAX6 ELP4
11	optic nerve hypoplasia, bilateral	9.8	PAX6 ELP4
12	wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	9.8	PAX6 ELP4
13	aniridia 1	9.8	PAX6 ELP4
14	hypertelorism	9.8	PAX6 ELP4
15	keratitis, hereditary	9.7	PAX6 ELP4
16	pathologic nystagmus	9.7	PAX6 ELP4
17	optic nerve disease	9.7	PAX6 ELP4
18	coloboma of macula	9.7	PAX6 ELP4
19	peters-plus syndrome	9.7	PAX6 ELP4
20	benign epilepsy with centrotemporal spikes	9.6	PAX6 ELP4
21	microphthalmia	9.6	PAX6 ELP4
22	cataract	9.5	PAX6 ELP4

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

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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)

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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

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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

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Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

⁴⁰

Eye

Sources

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	Vincent MC...Dollfus H	15629294	2004
2	PAX6 missense mutation in isolated foveal hypoplasia. ⁵⁷ ⁶	Azuma N...Yamada M	8640214	1996
3	Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. ⁵⁷	Perez Y...Birk OS	24045842	2014
4	Optical coherence tomography in the diagnosis of foveal hypoplasia. ⁵⁷	Recchia FM...Trese MT	12427081	2002
5	Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. ⁵⁷	Hanson I...van Heyningen V	9931324	1999
6	Isolated foveal hypoplasia. ⁵⁷	Oliver MD...Abraham FA	3427001	1987
7	Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome. ⁵⁷	O'Donnell FE...Pappas HR	7065945	1982
8	Isolated foveal hypoplasia. ⁵⁷	Curran RE...Robb RM	1247409	1976
9	Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations. ⁶¹	Matsushita I...Kondo H	32857266	2020
10	The recombinant anti-TNF-α fusion protein ameliorates rheumatoid arthritis by the protective role of autophagy. ⁶¹	Chen X...Yang J	32880389	2020
11	A gene encoding a hydrophobin, fvh1, is specifically expressed after the induction of fruiting in the edible mushroom Flammulina velutipes. ⁶¹	Ando A...Tamai Y	11409181	2001

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Genes for Foveal Hypoplasia 1

Genes related to Foveal Hypoplasia 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PAX6	Paired Box 6	Protein Coding	1691.67	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	15629294 9931324
2	ELP4	Elongator Acetyltransferase Complex Subunit 4	Protein Coding	400	Pathogenic ⁶

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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

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Expression for Foveal Hypoplasia 1

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

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Pathways for Foveal Hypoplasia 1

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

#	Super pathways	Score	Top Affiliating Genes
1	Mesodermal Commitment Pathway ¹ Show member pathways Endoderm Differentiation ¹	11.1	PAX6 ELP4

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GO Terms for Foveal Hypoplasia 1

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Sources for Foveal Hypoplasia 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Foveal Hypoplasia 1 (FVH1)

Aliases & Classifications for Foveal Hypoplasia 1

MalaCards integrated aliases for Foveal Hypoplasia 1:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Foveal Hypoplasia 1

Related Diseases for Foveal Hypoplasia 1

Diseases in the Foveal Hypoplasia 1 family:

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

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

Symptoms & Phenotypes for Foveal Hypoplasia 1

Human phenotypes related to Foveal Hypoplasia 1:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Foveal Hypoplasia 1

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

Interventional clinical trials:

Genetic Tests for Foveal Hypoplasia 1

Genetic tests related to Foveal Hypoplasia 1:

Anatomical Context for Foveal Hypoplasia 1

MalaCards organs/tissues related to Foveal Hypoplasia 1:

Publications for Foveal Hypoplasia 1

Articles related to Foveal Hypoplasia 1:

Genes for Foveal Hypoplasia 1

Genes related to Foveal Hypoplasia 1 (2 elite genes):

Variations for Foveal Hypoplasia 1

ClinVar genetic disease variations for Foveal Hypoplasia 1:

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

Expression for Foveal Hypoplasia 1

Pathways for Foveal Hypoplasia 1

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

GO Terms for Foveal Hypoplasia 1

Sources for Foveal Hypoplasia 1