MCID: MCL071
MIFTS: 20

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 57 75 29 6
Mdpt2 57 12 75
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 57 75
Butterfly-Shaped Pigmentary Maculary Dystrophy 2 12
Patterned Macular Dystrophy 2 12

Characteristics:

OMIM:

57
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)


HPO:

32
macular dystrophy, patterned, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608970
Disease Ontology 12 DOID:0060864
MedGen 42 C1837029
MeSH 44 D058499
SNOMED-CT via HPO 69 263681008

Summaries for Macular Dystrophy, Patterned, 2

UniProtKB/Swiss-Prot : 75 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, is also known as mdpt2. An important gene associated with Macular Dystrophy, Patterned, 2 is CTNNA1 (Catenin Alpha 1). Affiliated tissues include eye, retina and bone.

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.

OMIM : 57 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)

Related Diseases for Macular Dystrophy, Patterned, 2

Diseases in the Patterned Macular Dystrophy family:

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

Symptoms & Phenotypes for Macular Dystrophy, Patterned, 2

Symptoms via clinical synopsis from OMIM:

57
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

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Patterned, 2

Genetic Tests for Macular Dystrophy, Patterned, 2

Genetic tests related to Macular Dystrophy, Patterned, 2:

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

Anatomical Context for Macular Dystrophy, Patterned, 2

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

41
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:

75
# 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
# 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.953T> C (p.Leu318Ser) single nucleotide variant Pathogenic rs869320696 GRCh37 Chromosome 5, 138163298: 138163298
3 CTNNA1 NM_001903.4(CTNNA1): c.1293T> G (p.Ile431Met) single nucleotide variant Pathogenic rs755215402 GRCh38 Chromosome 5, 138887639: 138887639
4 CTNNA1 NM_001903.4(CTNNA1): c.1293T> G (p.Ile431Met) single nucleotide variant Pathogenic rs755215402 GRCh37 Chromosome 5, 138223328: 138223328
5 CTNNA1 NM_001903.4(CTNNA1): c.919G> A (p.Glu307Lys) single nucleotide variant Pathogenic rs869320697 GRCh38 Chromosome 5, 138827575: 138827575
6 CTNNA1 NM_001903.4(CTNNA1): c.919G> A (p.Glu307Lys) single nucleotide variant Pathogenic rs869320697 GRCh37 Chromosome 5, 138163264: 138163264

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
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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