MDPT2
MCID: MCL071
MIFTS: 22

Macular Dystrophy, Patterned, 2 (MDPT2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Patterned, 2

MalaCards integrated aliases for Macular Dystrophy, Patterned, 2:

Name: Macular Dystrophy, Patterned, 2 57 72 29 6
Mdpt2 57 12 72
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2 57 72
Butterfly-Shaped Pigmentary Maculary Dystrophy 2 12
Patterned Macular Dystrophy 2 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
macular dystrophy, patterned, 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060864
OMIM® 57 608970
OMIM Phenotypic Series 57 PS169150
MeSH 44 D058499
MedGen 41 C1837029
SNOMED-CT via HPO 68 18695008 263681008

Summaries for Macular Dystrophy, Patterned, 2

UniProtKB/Swiss-Prot : 72 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, and related phenotypes are drusen and foveal hyperpigmentation

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) (Updated 20-May-2021)

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

Human phenotypes related to Macular Dystrophy, Patterned, 2:

31 (showing 2, show less)
# Description HPO Frequency HPO Source Accession
1 drusen 31 HP:0011510
2 foveal hyperpigmentation 31 HP:0008001

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye, Retina, Bone

Publications for Macular Dystrophy, Patterned, 2

Articles related to Macular Dystrophy, Patterned, 2:

(showing 4, show less)
# Title Authors PMID Year
1
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. 57 6
26691986 2016
2
Butterfly-shaped pigment dystrophy of the fovea. 57 6
5442145 1970
3
Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2. 57
15342701 2004
4
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea. 57
12724643 2003

Variations for Macular Dystrophy, Patterned, 2

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

6 (showing 4, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNNA1 NM_001903.5(CTNNA1):c.1293T>G (p.Ile431Met) SNV Pathogenic 225127 rs755215402 GRCh37: 5:138223328-138223328
GRCh38: 5:138887639-138887639
2 CTNNA1 NM_001903.5(CTNNA1):c.919G>A (p.Glu307Lys) SNV Pathogenic 225128 rs869320697 GRCh37: 5:138163264-138163264
GRCh38: 5:138827575-138827575
3 CTNNA1 NM_001903.5(CTNNA1):c.953T>C (p.Leu318Ser) SNV Pathogenic 225126 rs869320696 GRCh37: 5:138163298-138163298
GRCh38: 5:138827609-138827609
4 CTNNA1 NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) SNV Uncertain significance 437999 rs1554085478 GRCh37: 5:138163310-138163310
GRCh38: 5:138827621-138827621

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

72 (showing 4, show less)
# 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

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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