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 59
Butterfly-Shaped Pigmentary Macular Dystrophy 59
Butterfly-Shaped Pattern Dystrophy 59

Characteristics:

Orphanet epidemiological data:

59
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: 59  
Rare eye diseases


External Ids:

Orphanet 59 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 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:

46
# 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:

41
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 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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