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 pathologic nystagmus and iris disease. 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 iris disease 9.8 PAX6 SLC38A8
3 congenital nystagmus 9.8 PAX6 SLC38A8
4 aniridia 1 9.8 PAX6 SLC38A8
5 anterior segment dysgenesis 9.8 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:

41
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
Spectral-domain optical coherence tomographic characteristics of autosomal recessive isolated foveal hypoplasia. ( 23044950 )
2012
7
Isolated foveal hypoplasia: tomographic, angiographic and autofluorescence patterns. ( 22900218 )
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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