MCID: BTT011
MIFTS: 26

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 60
Butterfly-Shaped Pigmentary Macular Dystrophy 60
Butterfly-Shaped Pattern Dystrophy 60

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare eye diseases


External Ids:

ICD10 via Orphanet 35 H35.5
Orphanet 60 ORPHA99001

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 Remodeling of Adherens Junctions and Adhesion. 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:

47
# 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:

42
Eye

Publications for Butterfly-Shaped Pigment Dystrophy

Articles related to Butterfly-Shaped Pigment Dystrophy:

(show all 11)
# Title Authors Year
1
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. ( 26691986 )
2016
2
Butterfly-shaped pattern dystrophy in myotonic dystrophy. ( 22892517 )
2012
3
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea. ( 12724643 )
2003
4
Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report. ( 11934323 )
2002
5
Pigment dispersion syndrome and butterfly-shaped pattern dystrophy of the retinal pigment epithelium. ( 11040921 )
2000
6
Butterfly-shaped pigment dystrophy of the fovea associated with subretinal neovascularization. ( 8964534 )
1996
7
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. ( 8251014 )
1993
8
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. ( 8401530 )
1993
9
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. ( 8485574 )
1993
10
An apparent case of butterfly-shaped pigment dystrophy of the fovea. ( 7055205 )
1982
11
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 11.41 CTNNA1 VCL
2 11.35 CTNNA1 VCL
3 11.02 CTNNA1 VCL
4 10.81 CTNNA1 VCL
5 10.75 CTNNA1 VCL
6 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
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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