MCID: ISL131
MIFTS: 12

Isolated Foveal Hypoplasia

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Isolated Foveal Hypoplasia

MalaCards integrated aliases for Isolated Foveal Hypoplasia:

Name: Isolated Foveal Hypoplasia 59

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

Orphanet 59 ORPHA519398

Summaries for Isolated Foveal Hypoplasia

MalaCards based summary : Isolated Foveal Hypoplasia is related to aniridia 1 and congenital nystagmus. An important gene associated with Isolated Foveal Hypoplasia is PAX6 (Paired Box 6). Affiliated tissues include eye.

Related Diseases for Isolated Foveal Hypoplasia

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

(show all 12)
# Related Disease Score Top Affiliating Genes
1 aniridia 1 29.8 SLC38A8 PAX6
2 congenital nystagmus 29.6 SLC38A8 PAX6
3 pathologic nystagmus 29.3 SLC38A8 PAX6
4 foveal hypoplasia 1 10.3
5 albinism 10.3
6 albinism, oculocutaneous, type ii 10.0
7 foveal hypoplasia 2 10.0
8 oculocutaneous albinism 10.0
9 ocular albinism 10.0
10 achromatopsia 10.0
11 iris disease 9.5 SLC38A8 PAX6
12 anterior segment dysgenesis 9.4 SLC38A8 PAX6

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



Diseases related to Isolated Foveal Hypoplasia

Symptoms & Phenotypes for Isolated Foveal Hypoplasia

Drugs & Therapeutics for Isolated Foveal Hypoplasia

Search Clinical Trials , NIH Clinical Center for Isolated Foveal Hypoplasia

Genetic Tests for Isolated Foveal Hypoplasia

Anatomical Context for Isolated Foveal Hypoplasia

MalaCards organs/tissues related to Isolated Foveal Hypoplasia:

41
Eye

Publications for Isolated Foveal Hypoplasia

Articles related to Isolated Foveal Hypoplasia:

(show all 24)
# Title Authors PMID Year
1
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability. 38
30555098 2018
2
Unilateral isolated foveal hypoplasia. 38
29784171 2018
3
The Diagnostic Role of Multimodal Imaging Techniques in Isolated Foveal Hypoplasia. 38
29109903 2017
4
Evaluating outer segment length as a surrogate measure of peak foveal cone density. 38
27887888 2017
5
The ophthalmic presentation of Hermansky-Pudlak syndrome 6. 38
26823395 2016
6
'Congenital' nystagmus may hide various ophthalmic diagnoses. 38
23889849 2014
7
Isolated foveal hypoplasia without nystagmus. 38
24442758 2014
8
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. 38
24045842 2014
9
Isolated foveal hypoplasia: clinical presentation and imaging findings. 38
24637485 2014
10
Potential of handheld optical coherence tomography to determine cause of infantile nystagmus in children by using foveal morphology. 38
24161406 2013
11
Optical coherence tomography studies provides new insights into diagnosis and prognosis of infantile nystagmus: a review. 38
23211143 2012
12
Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia. 38
23044950 2012
13
Isolated foveal hypoplasia: tomographic, angiographic and autofluorescence patterns. 38
22900218 2012
14
Isolated foveal hypoplasia: report of a new case and detailed genetic investigation. 38
21264491 2011
15
Isolated foveal hypoplasia. 38
18401554 2009
16
Isolated foveal hypoplasia. 38
18997616 2008
17
PAX6 mutations may be associated with high myopia. 38
17896318 2007
18
Isolated foveal hypoplasia detected by optical coherence tomography. 38
16333181 2005
19
A new set of primers for mutation analysis of the human PAX6 gene. 38
9671274 1998
20
PAX6 mutations reviewed. 38
9482572 1998
21
PAX6 missense mutation in isolated foveal hypoplasia. 38
8640214 1996
22
Isolated foveal hypoplasia. 38
3427001 1987
23
Autosomal dominant foveal hypoplasia and presenile cataracts. A new syndrome. 38
7065945 1982
24
Isolated foveal hypoplasia. 38
1247409 1976

Variations for Isolated Foveal Hypoplasia

Expression for Isolated Foveal Hypoplasia

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

Pathways for Isolated Foveal Hypoplasia

GO Terms for Isolated Foveal Hypoplasia

Sources for Isolated Foveal Hypoplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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