MCID: BTT011
MIFTS: 23

Butterfly-Shaped Pigment Dystrophy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Butterfly-Shaped Pigment Dystrophy

MalaCards integrated aliases for Butterfly-Shaped Pigment Dystrophy:

Name: Butterfly-Shaped Pigment Dystrophy 56
Butterfly-Shaped Pigmentary Macular Dystrophy 56
Butterfly-Shaped Pattern Dystrophy 56

Characteristics:

Orphanet epidemiological data:

56
butterfly-shaped pigment dystrophy
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

Orphanet 56 ORPHA99001
ICD10 via Orphanet 34 H35.5

Summaries for Butterfly-Shaped Pigment Dystrophy

MalaCards based summary : Butterfly-Shaped Pigment Dystrophy, also known as butterfly-shaped pigmentary macular dystrophy, is related to macular dystrophy, patterned, 1 and patterned macular dystrophy. An important gene associated with Butterfly-Shaped Pigment Dystrophy is CTNNA1 (Catenin Alpha 1), and among its related pathways/superpathways are Adhesion and Bacterial invasion of epithelial cells. Affiliated tissues include eye, and related phenotypes are cardiovascular system and nervous system

Related Diseases for Butterfly-Shaped Pigment Dystrophy

Graphical network of the top 20 diseases related to Butterfly-Shaped Pigment Dystrophy:



Diseases related to Butterfly-Shaped Pigment Dystrophy

Symptoms & Phenotypes for Butterfly-Shaped Pigment Dystrophy

MGI Mouse Phenotypes related to Butterfly-Shaped Pigment Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 VCL CTNNA1 OTX2 PRPH2 ROM1
2 nervous system MP:0003631 9.55 ROM1 VCL CTNNA1 OTX2 PRPH2
3 pigmentation MP:0001186 9.13 CTNNA1 OTX2 PRPH2
4 vision/eye MP:0005391 8.92 ROM1 CTNNA1 OTX2 PRPH2

Drugs & Therapeutics for Butterfly-Shaped Pigment Dystrophy

Search Clinical Trials , NIH Clinical Center for Butterfly-Shaped Pigment Dystrophy

Genetic Tests for Butterfly-Shaped Pigment Dystrophy

Anatomical Context for Butterfly-Shaped Pigment Dystrophy

MalaCards organs/tissues related to Butterfly-Shaped Pigment Dystrophy:

39
Eye

Publications for Butterfly-Shaped Pigment Dystrophy

Articles related to Butterfly-Shaped Pigment Dystrophy:

id Title Authors Year
1
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. ( 26691986 )
2016
2
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea. ( 12724643 )
2003
3
Butterfly-shaped pigment dystrophy of the fovea associated with subretinal neovascularization. ( 8964534 )
1996
4
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. ( 8401530 )
1993
5
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. ( 8485574 )
1993
6
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. ( 8251014 )
1993
7
An apparent case of butterfly-shaped pigment dystrophy of the fovea. ( 7055205 )
1982
8
Butterfly-shaped pigment dystrophy of the fovea. ( 5442145 )
1970

Variations for Butterfly-Shaped Pigment Dystrophy

Expression for Butterfly-Shaped Pigment Dystrophy

Search GEO for disease gene expression data for Butterfly-Shaped Pigment Dystrophy.

Pathways for Butterfly-Shaped Pigment Dystrophy

Pathways related to Butterfly-Shaped Pigment Dystrophy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.3 CTNNA1 VCL
2 11.04 CTNNA1 VCL
3 10.81 CTNNA1 VCL
4 10.7 CTNNA1 VCL
5 10.23 CTNNA1 VCL

GO Terms for Butterfly-Shaped Pigment Dystrophy

Cellular components related to Butterfly-Shaped Pigment Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.26 CTNNA1 VCL
2 cell-cell adherens junction GO:0005913 9.16 CTNNA1 VCL
3 adherens junction GO:0005912 8.96 CTNNA1 VCL
4 zonula adherens GO:0005915 8.62 CTNNA1 VCL

Biological processes related to Butterfly-Shaped Pigment Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.46 CTNNA1 PRPH2 ROM1 VCL
2 epithelial cell-cell adhesion GO:0090136 8.96 CTNNA1 VCL
3 apical junction assembly GO:0043297 8.62 CTNNA1 VCL

Molecular functions related to Butterfly-Shaped Pigment Dystrophy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.96 CTNNA1 VCL
2 beta-catenin binding GO:0008013 8.62 CTNNA1 VCL

Sources for Butterfly-Shaped Pigment Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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