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 60

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 60  
Rare eye diseases


External Ids:

Orphanet 60 ORPHA519398

Summaries for Isolated Foveal Hypoplasia

MalaCards based summary : Isolated Foveal Hypoplasia is related to pathologic nystagmus and foveal hypoplasia 1. 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:

# Related Disease Score Top Affiliating Genes
1 pathologic nystagmus 29.5 PAX6 SLC38A8
2 foveal hypoplasia 1 10.0
3 foveal hypoplasia 2 10.0
4 iris disease 9.7 PAX6 SLC38A8
5 congenital nystagmus 9.7 PAX6 SLC38A8
6 aniridia 1 9.7 PAX6 SLC38A8
7 anterior segment dysgenesis 9.6 PAX6 SLC38A8

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:

42
Eye

Publications for Isolated Foveal Hypoplasia

Articles related to Isolated Foveal Hypoplasia:

(show all 14)
# Title Authors Year
1
Unilateral isolated foveal hypoplasia. ( 29784171 )
2018
2
The Diagnostic Role of Multimodal Imaging Techniques in Isolated Foveal Hypoplasia. ( 29109903 )
2017
3
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. ( 24045842 )
2014
4
Isolated foveal hypoplasia without nystagmus. ( 24442758 )
2014
5
Isolated foveal hypoplasia: clinical presentation and imaging findings. ( 24637485 )
2014
6
Isolated foveal hypoplasia: tomographic, angiographic and autofluorescence patterns. ( 22900218 )
2012
7
Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia. ( 23044950 )
2012
8
Isolated foveal hypoplasia: report of a new case and detailed genetic investigation. ( 21264491 )
2011
9
Isolated foveal hypoplasia. ( 18401554 )
2009
10
Isolated foveal hypoplasia. ( 18997616 )
2008
11
Isolated foveal hypoplasia detected by optical coherence tomography. ( 16333181 )
2005
12
PAX6 missense mutation in isolated foveal hypoplasia. ( 8640214 )
1996
13
Isolated foveal hypoplasia. ( 3427001 )
1987
14
Isolated foveal hypoplasia. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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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