MCID: MCL071
MIFTS: 23

Macular Dystrophy, Patterned, 2

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Patterned, 2

MalaCards integrated aliases for Macular Dystrophy, Patterned, 2:

Name: Macular Dystrophy, Patterned, 2 54 71 29
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 54 71
Mdpt2 12 71
Butterfly-Shaped Pigmentary Maculary Dystrophy 2 12
Macular Dystrophy, Patterned 2 24
Patterned Macular Dystrophy 2 12

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset of symptoms in third to fourth decade of life
pigmentation not always butterfly-shaped
variable severity between patients and between eyes (in some patients)


Classifications:



External Ids:

OMIM 54 608970
Disease Ontology 12 DOID:0060864
MedGen 40 C1837029
MeSH 42 D058499

Summaries for Macular Dystrophy, Patterned, 2

UniProtKB/Swiss-Prot : 71 Macular dystrophy, patterned, 2: A form of retinal patterned dystrophy, a heterogeneous group of macular disorders caused by abnormal accumulation of lipofuscin in the retinal pigment epithelium. Lipofuscin distribution can show various shapes that define different types of macular dystrophy, including reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy. MDPT2 is an autosomal dominant form characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly.

MalaCards based summary : Macular Dystrophy, Patterned, 2, also known as macular dystrophy, butterfly-shaped pigmentary, 2, is related to deafness, autosomal dominant 1. An important gene associated with Macular Dystrophy, Patterned, 2 is CTNNA1 (Catenin Alpha 1). Affiliated tissues include eye, retina and bone.

OMIM : 54
Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by van Lith-Verhoeven et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see 169150. (608970)

Disease Ontology : 12 A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.

Related Diseases for Macular Dystrophy, Patterned, 2

Diseases in the Patterned Macular Dystrophy family:

Macular Dystrophy, Patterned, 3 Macular Dystrophy, Patterned, 2
Macular Dystrophy, Patterned, 1

Diseases related to Macular Dystrophy, Patterned, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 deafness, autosomal dominant 1 9.5 CTNNA1 MDBS2

Symptoms & Phenotypes for Macular Dystrophy, Patterned, 2

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
butterfly-shaped foveal hyperpigmentation
pigmentation consists of closely packed pigment granules in the retina pigment epithelium (rpe)
butterfly surrounded by hypopigmentation (in some patients)
uneven distribution of macular yellow
diffuse pigment mottling in peripheral retina
more

Clinical features from OMIM:

608970

Drugs & Therapeutics for Macular Dystrophy, Patterned, 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Morphological and Functional Retinal Changes Following Retinal Photocoagulation Completed NCT00682240 Phase 4

Search NIH Clinical Center for Macular Dystrophy, Patterned, 2

Genetic Tests for Macular Dystrophy, Patterned, 2

Genetic tests related to Macular Dystrophy, Patterned, 2:

id Genetic test Affiliating Genes
1 Macular Dystrophy, Patterned, 2 29
2 Macular Dystrophy, Patterned 2 24 CTNNA1

Anatomical Context for Macular Dystrophy, Patterned, 2

MalaCards organs/tissues related to Macular Dystrophy, Patterned, 2:

39
Eye, Retina, Bone

Publications for Macular Dystrophy, Patterned, 2

Variations for Macular Dystrophy, Patterned, 2

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Patterned, 2:

71
id Symbol AA change Variation ID SNP ID
1 CTNNA1 p.Arg54Cys VAR_076586 rs781520852
2 CTNNA1 p.Glu307Lys VAR_076587 rs869320697
3 CTNNA1 p.Leu318Ser VAR_076588 rs869320696
4 CTNNA1 p.Ile431Met VAR_076589 rs755215402

ClinVar genetic disease variations for Macular Dystrophy, Patterned, 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CTNNA1 NM_001903.4(CTNNA1): c.953T> C (p.Leu318Ser) single nucleotide variant Pathogenic rs869320696 GRCh38 Chromosome 5, 138827609: 138827609
2 CTNNA1 NM_001903.4(CTNNA1): c.1293T> G (p.Ile431Met) single nucleotide variant Pathogenic rs755215402 GRCh38 Chromosome 5, 138887639: 138887639
3 CTNNA1 NM_001903.4(CTNNA1): c.919G> A (p.Glu307Lys) single nucleotide variant Pathogenic rs869320697 GRCh38 Chromosome 5, 138827575: 138827575

Expression for Macular Dystrophy, Patterned, 2

Search GEO for disease gene expression data for Macular Dystrophy, Patterned, 2.

Pathways for Macular Dystrophy, Patterned, 2

GO Terms for Macular Dystrophy, Patterned, 2

Sources for Macular Dystrophy, Patterned, 2

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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