MCID: MCL059
MIFTS: 27

Macular Dystrophy, Patterned, 1

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Patterned, 1

MalaCards integrated aliases for Macular Dystrophy, Patterned, 1:

Name: Macular Dystrophy, Patterned, 1 54 71
Patterned Dystrophy of Retinal Pigment Epithelium 71 29 69
Mdpt1 12 71
Butterfly Dystrophy of Retinal Pigment Epithelium 71
Butterfly-Shaped Pigmentary Maculary Dystrophy 1 12
Macular Dystrophy, Butterfly-Shaped Pigmentary 71
Patterned Macular Dystrophy 1 12

Characteristics:

OMIM:

54
Miscellaneous:
onset usually in third decade of life

Inheritance:
autosomal dominant


HPO:

32
macular dystrophy, patterned, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 169150
Disease Ontology 12 DOID:0060866
MedGen 40 C1868569
MeSH 42 D058499

Summaries for Macular Dystrophy, Patterned, 1

OMIM : 54
Patterned dystrophies of the retinal pigment epithelium (RPE) refer to a heterogeneous group of macular disorders, characterized by an abnormal accumulation of lipofuscin in the RPE. The lipofuscin is most apparent in the macular area, and its distribution can show various sizes and shapes. High inter- and intrafamilial variability has been described, and retinitis pigmentosa (RP; see 268000)-like changes have sometimes been observed in association with patterned dystrophies (summary by Vaclavik et al., 2012). Three main varieties of patterned dystrophy of the RPE have been described: reticular ('fishnet-like') dystrophy (see 179840 and 267800), macroreticular ('spider-shaped') dystrophy, and butterfly-shaped pigment dystrophy of the fovea. (169150)

MalaCards based summary : Macular Dystrophy, Patterned, 1, also known as patterned dystrophy of retinal pigment epithelium, is related to patterned macular dystrophy and macular dystrophy, patterned, 2, and has symptoms including nyctalopia, photophobia and macular dystrophy. An important gene associated with Macular Dystrophy, Patterned, 1 is PRPH2 (Peripherin 2). Affiliated tissues include testes and eye.

UniProtKB/Swiss-Prot : 71 Macular dystrophy, patterned, 1: A form of retinal patterned dystrophy, a heterogeneous group of macular disorders that includes reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy.

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 PRPH2 gene on chromosome 6p21.

Related Diseases for Macular Dystrophy, Patterned, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 patterned macular dystrophy 11.5
2 macular dystrophy, patterned, 2 11.5
3 macular dystrophy, patterned, 3 10.9
4 pigment dispersion syndrome 9.9
5 retinitis 9.9

Graphical network of the top 20 diseases related to Macular Dystrophy, Patterned, 1:



Diseases related to Macular Dystrophy, Patterned, 1

Symptoms & Phenotypes for Macular Dystrophy, Patterned, 1

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
protan defect on color vision testing (in some patients)
tritan defect on color vision testing (in some patients)
choroidal neovascularization (in some patients)
dark choroid (rare)
globular deposits along major vascular arcades
more

Clinical features from OMIM:

169150

Human phenotypes related to Macular Dystrophy, Patterned, 1:

32
id Description HPO Frequency HPO Source Accession
1 nyctalopia 32 occasional (7.5%) HP:0000662
2 photophobia 32 occasional (7.5%) HP:0000613
3 macular dystrophy 32 HP:0007754
4 metamorphopsia 32 occasional (7.5%) HP:0012508
5 reticular retinal dystrophy 32 HP:0007913

Drugs & Therapeutics for Macular Dystrophy, Patterned, 1

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, 1

Genetic Tests for Macular Dystrophy, Patterned, 1

Genetic tests related to Macular Dystrophy, Patterned, 1:

id Genetic test Affiliating Genes
1 Patterned Dystrophy of Retinal Pigment Epithelium 29 24 PRPH2

Anatomical Context for Macular Dystrophy, Patterned, 1

MalaCards organs/tissues related to Macular Dystrophy, Patterned, 1:

39
Testes, Eye

Publications for Macular Dystrophy, Patterned, 1

Variations for Macular Dystrophy, Patterned, 1

UniProtKB/Swiss-Prot genetic disease variations for Macular Dystrophy, Patterned, 1:

71
id Symbol AA change Variation ID SNP ID
1 PRPH2 p.Gly68Arg VAR_006857
2 PRPH2 p.Asp157Asn VAR_006863
3 PRPH2 p.Gly167Asp VAR_006865
4 PRPH2 p.Arg172Gly VAR_006866
5 PRPH2 p.Pro210Arg VAR_006874
6 PRPH2 p.Cys213Arg VAR_006879
7 PRPH2 p.Arg220Gln VAR_006885
8 PRPH2 p.Arg220Trp VAR_006886
9 PRPH2 p.Gly167Ser VAR_032052

ClinVar genetic disease variations for Macular Dystrophy, Patterned, 1:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRPH2 NM_000322.4(PRPH2): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs121918563 GRCh37 Chromosome 6, 42689519: 42689519
2 PRPH2 NM_000322.4(PRPH2): c.500G> A (p.Gly167Asp) single nucleotide variant Pathogenic rs61755789 GRCh37 Chromosome 6, 42689573: 42689573
3 PRPH2 NM_000322.4(PRPH2): c.897_898delTG (p.Ser301Argfs) deletion Pathogenic rs61748429 GRCh37 Chromosome 6, 42666176: 42666177
4 PRPH2 NM_000322.4(PRPH2): c.418_421dupTACT (p.Tyr141Leufs) duplication Pathogenic rs672601326 GRCh37 Chromosome 6, 42689652: 42689655
5 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh38 Chromosome 6, 42721872: 42721874
6 PRPH2 NM_000322.4(PRPH2): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs61755781 GRCh37 Chromosome 6, 42689651: 42689651
7 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh37 Chromosome 6, 42672294: 42672294

Expression for Macular Dystrophy, Patterned, 1

Search GEO for disease gene expression data for Macular Dystrophy, Patterned, 1.

Pathways for Macular Dystrophy, Patterned, 1

GO Terms for Macular Dystrophy, Patterned, 1

Sources for Macular Dystrophy, Patterned, 1

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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37 KEGG
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40 MedGen
42 MeSH
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48 NDF-RT
51 NINDS
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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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