MCID: BTT011
MIFTS: 25

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 55
Butterfly-Shaped Pigmentary Macular Dystrophy 55
Butterfly-Shaped Pattern Dystrophy 55

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Rare eye diseases


External Ids:

Orphanet 55 ORPHA99001
ICD10 via Orphanet 33 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 macular dystrophy, patterned, 2. 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

Diseases related to Butterfly-Shaped Pigment Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 macular dystrophy, patterned, 1 12.0
2 macular dystrophy, patterned, 2 11.2
3 radin blood group antigen 10.3
4 retinitis 10.1
5 peripheral retinal degeneration 9.7 PRPH2 ROM1
6 rhyns syndrome 9.7 PRPH2 ROM1
7 retinitis pigmentosa 7 9.7 PRPH2 ROM1
8 vitelliform macular dystrophy 9.6 PRPH2 ROM1
9 retinal disease 9.6 PRPH2 ROM1
10 fundus dystrophy 9.5 PRPH2 ROM1
11 retinal degeneration 9.4 PRPH2 ROM1

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 CTNNA1 OTX2 PRPH2 ROM1 VCL
2 nervous system MP:0003631 9.55 CTNNA1 OTX2 PRPH2 ROM1 VCL
3 pigmentation MP:0001186 9.13 CTNNA1 OTX2 PRPH2
4 vision/eye MP:0005391 8.92 CTNNA1 OTX2 PRPH2 ROM1

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:

38
Eye

Publications for Butterfly-Shaped Pigment Dystrophy

Articles related to Butterfly-Shaped Pigment Dystrophy:

# 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. ( 8251014 )
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. ( 8401530 )
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:

# Super pathways Score Top Affiliating Genes
1 11.34 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.26 PRPH2 ROM1
2 cell adhesion GO:0007155 9.26 CTNNA1 PRPH2 ROM1 VCL
3 epithelial cell-cell adhesion GO:0090136 9.16 CTNNA1 VCL
4 apical junction assembly GO:0043297 8.62 CTNNA1 VCL

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....