MCID: MCL059
MIFTS: 26

Macular Dystrophy, Patterned, 1

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Macular Dystrophy, Patterned, 1

MalaCards integrated aliases for Macular Dystrophy, Patterned, 1:

Name: Macular Dystrophy, Patterned, 1 53 71
Patterned Dystrophy of Retinal Pigment Epithelium 53 49 71 28 69
Butterfly Dystrophy of Retinal Pigment Epithelium 53 49 71
Macular Dystrophy, Butterfly-Shaped Pigmentary 53 49 71
Mdpt1 53 12 71
Butterfly-Shaped Pigmentary Maculary Dystrophy 1 12
Butterfly-Shaped Pigment Dystrophy of the Fovea 49
Patterned Macular Dystrophy 1 12

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in third decade of life


HPO:

31
macular dystrophy, patterned, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 169150
Disease Ontology 12 DOID:0060866
MedGen 39 C1868569
MeSH 41 D058499
UMLS 69 C1868569

Summaries for Macular Dystrophy, Patterned, 1

OMIM : 53 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 macular dystrophy, patterned, 2 and patterned macular dystrophy, and has symptoms including photophobia, metamorphopsia and nyctalopia. 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, 1 Macular Dystrophy, Patterned, 2
Macular Dystrophy, Patterned, 3

Diseases related to Macular Dystrophy, Patterned, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 macular dystrophy, patterned, 2 11.6
2 patterned macular dystrophy 11.4
3 retinal dystrophy, reticular pigmentary, of posterior pole 10.9
4 macular dystrophy, patterned, 3 10.9
5 butterfly-shaped pigment dystrophy 10.7
6 radin blood group antigen 10.5
7 glaucoma-related pigment dispersion syndrome 10.0
8 retinitis 10.0

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:

53
Head And Neck Eyes:
loss of central vision
metamorphopsia (in some patients)
night blindness (in some patients)
photophobia (rare)
abnormal deposit of pigment in perifoveal retinal pigment epithelium
more

Clinical features from OMIM:

169150

Human phenotypes related to Macular Dystrophy, Patterned, 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 occasional (7.5%) HP:0000613
2 metamorphopsia 31 occasional (7.5%) HP:0012508
3 nyctalopia 31 occasional (7.5%) HP:0000662
4 macular dystrophy 31 HP:0007754
5 reticular retinal dystrophy 31 HP:0007913
6 dark choroid 31 occasional (7.5%) HP:0025148

Drugs & Therapeutics for Macular Dystrophy, Patterned, 1

Search Clinical Trials , NIH Clinical Center for Macular Dystrophy, Patterned, 1

Genetic Tests for Macular Dystrophy, Patterned, 1

Genetic tests related to Macular Dystrophy, Patterned, 1:

# Genetic test Affiliating Genes
1 Patterned Dystrophy of Retinal Pigment Epithelium 28 PRPH2

Anatomical Context for Macular Dystrophy, Patterned, 1

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

38
Testes, Eye

Publications for Macular Dystrophy, Patterned, 1

Articles related to Macular Dystrophy, Patterned, 1:

# Title Authors Year
1
Pigment dispersion syndrome and pigmented pattern dystrophy of retinal pigment epithelium. ( 6871146 )
1983

Variations for Macular Dystrophy, Patterned, 1

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

71
# 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
# 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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