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 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:

ICD10 via Orphanet 34 H35.5
Orphanet 59 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 retinal degeneration and vitelliform macular dystrophy. 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 retina, 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 (showing 4, show less)
# 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, Retina

Publications for Butterfly-Shaped Pigment Dystrophy

Articles related to Butterfly-Shaped Pigment Dystrophy:

(showing 24, show less)
# Title Authors PMID Year
1
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. 38 71
26691986 2016
2
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. 38 71
8251014 1993
3
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. 38 71
8485574 1993
4
Butterfly-shaped pigment dystrophy of the fovea. 38 71
5442145 1970
5
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. 71
25001182 2014
6
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 71
23847139 2013
7
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections. 71
22466463 2012
8
A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. 71
15370544 2004
9
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. 71
11297544 2001
10
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 71
9443872 1998
11
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene. 71
7710395 1995
12
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. 71
8202715 1994
13
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. 71
8240110 1993
14
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. 71
1684223 1991
15
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. 38
28453600 2017
16
Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism. 38
22893068 2012
17
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea. 38
12724643 2003
18
Butterfly-shaped pigment dystrophy of the fovea associated with subretinal neovascularization. 38
8964534 1996
19
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. 38
8401530 1993
20
An apparent case of butterfly-shaped pigment dystrophy of the fovea. 38
7055205 1982
21
Sporadic butterfly macular dystrophy. 38
7325502 1981
22
[Juvenile macula degeneration]. 38
399491 1979
23
Patterned dystrophies of the retinal pigment epithelium. 38
843272 1977
24
[Butterfly-shaped dystrophy of the macula (author's transl)]. 38
994401 1976

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:

(showing 6, show less)
# Super pathways Score Top Affiliating Genes
1 11.46 VCL CTNNA1
2 11.35 VCL CTNNA1
3 11.02 VCL CTNNA1
4 10.81 VCL CTNNA1
5 10.7 VCL CTNNA1
6 10.23 VCL CTNNA1

GO Terms for Butterfly-Shaped Pigment Dystrophy

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

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.26 VCL CTNNA1
2 cell-cell adherens junction GO:0005913 9.16 VCL CTNNA1
3 adherens junction GO:0005912 8.96 VCL CTNNA1
4 zonula adherens GO:0005915 8.62 VCL CTNNA1

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

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

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

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 8.96 VCL CTNNA1
2 beta-catenin binding GO:0008013 8.62 VCL CTNNA1

Sources for Butterfly-Shaped Pigment Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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