MDPT1
MCID: MCL059
MIFTS: 28

Macular Dystrophy, Patterned, 1 (MDPT1)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Macular Dystrophy, Patterned, 1

MalaCards integrated aliases for Macular Dystrophy, Patterned, 1:

Name: Macular Dystrophy, Patterned, 1 57 75
Patterned Dystrophy of Retinal Pigment Epithelium 57 53 75 29 6 73
Butterfly Dystrophy of Retinal Pigment Epithelium 57 53 75
Macular Dystrophy, Butterfly-Shaped Pigmentary 57 53 75
Mdpt1 57 12 75
Butterfly-Shaped Pigmentary Maculary Dystrophy 1 12
Butterfly-Shaped Pigment Dystrophy of the Fovea 53
Dystrophy, Macular, Patterned, Type 1 40
Patterned Macular Dystrophy 1 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in third decade of life


HPO:

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


Classifications:



External Ids:

OMIM 57 169150
Disease Ontology 12 DOID:0060866
MedGen 42 C1868569
MeSH 44 D058499
UMLS 73 C1868569

Summaries for Macular Dystrophy, Patterned, 1

OMIM : 57 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. An important gene associated with Macular Dystrophy, Patterned, 1 is PRPH2 (Peripherin 2). Affiliated tissues include testes and eye, and related phenotypes are photophobia and nyctalopia

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.

UniProtKB/Swiss-Prot : 75 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.

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 11.8
2 patterned macular dystrophy 11.5
3 retinal dystrophy, reticular pigmentary, of posterior pole 11.1
4 macular dystrophy, patterned, 3 11.1
5 butterfly-shaped pigment dystrophy 10.8
6 glaucoma-related pigment dispersion syndrome 10.1

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:

57
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:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 photophobia 32 occasional (7.5%) HP:0000613
2 nyctalopia 32 occasional (7.5%) HP:0000662
3 macular dystrophy 32 HP:0007754
4 metamorphopsia 32 occasional (7.5%) HP:0012508
5 choroidal neovascularization 32 very rare (1%) HP:0011506
6 reticular retinal dystrophy 32 HP:0007913
7 dark choroid 32 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 29 PRPH2

Anatomical Context for Macular Dystrophy, Patterned, 1

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

41
Testes, Eye

Publications for Macular Dystrophy, Patterned, 1

Articles related to Macular Dystrophy, Patterned, 1:

# Title Authors Year
1
Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea. ( 12724643 )
2003
2
Butterfly-shaped pigment dystrophy of the fovea associated with subretinal neovascularization. ( 8964534 )
1996
3
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. ( 8251014 )
1993
4
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. ( 8401530 )
1993
5
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. ( 8485574 )
1993
6
An apparent case of butterfly-shaped pigment dystrophy of the fovea. ( 7055205 )
1982
7
Butterfly-shaped pigment dystrophy of the fovea. ( 5442145 )
1970

Variations for Macular Dystrophy, Patterned, 1

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

75
# 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 (show top 50) (show all 116)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPH2 NM_000322.4(PRPH2): c.318T> C (p.Val106=) single nucleotide variant Benign/Likely benign rs7764439 GRCh37 Chromosome 6, 42689755: 42689755
2 PRPH2 NM_000322.4(PRPH2): c.318T> C (p.Val106=) single nucleotide variant Benign/Likely benign rs7764439 GRCh38 Chromosome 6, 42722017: 42722017
3 PRPH2 NM_000322.4(PRPH2): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs61755781 GRCh37 Chromosome 6, 42689651: 42689651
4 PRPH2 NM_000322.4(PRPH2): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs61755781 GRCh38 Chromosome 6, 42721913: 42721913
5 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh37 Chromosome 6, 42672294: 42672294
6 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh38 Chromosome 6, 42704556: 42704556
7 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh37 Chromosome 6, 42666136: 42666136
8 PRPH2 NM_000322.4(PRPH2): c.938C> T (p.Pro313Leu) single nucleotide variant Uncertain significance rs61748434 GRCh38 Chromosome 6, 42698398: 42698398
9 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh38 Chromosome 6, 42698426: 42698426
10 PRPH2 NM_000322.4(PRPH2): c.910C> G (p.Gln304Glu) single nucleotide variant Benign/Likely benign rs390659 GRCh37 Chromosome 6, 42666164: 42666164
11 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh37 Chromosome 6, 42666145: 42666145
12 PRPH2 NM_000322.4(PRPH2): c.929G> A (p.Arg310Lys) single nucleotide variant Benign/Likely benign rs425876 GRCh38 Chromosome 6, 42698407: 42698407
13 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh37 Chromosome 6, 42666061: 42666061
14 PRPH2 NM_000322.4(PRPH2): c.1013A> G (p.Asp338Gly) single nucleotide variant Benign/Likely benign rs434102 GRCh38 Chromosome 6, 42698323: 42698323
15 PRPH2 NM_000322.4(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh37 Chromosome 6, 42690083: 42690083
16 PRPH2 NM_000322.4(PRPH2): c.-11A> C single nucleotide variant Benign/Likely benign rs114062933 GRCh38 Chromosome 6, 42722345: 42722345
17 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh37 Chromosome 6, 42666020: 42666020
18 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh38 Chromosome 6, 42698282: 42698282
19 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh37 Chromosome 6, 42672130: 42672130
20 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Conflicting interpretations of pathogenicity rs189358082 GRCh38 Chromosome 6, 42704392: 42704392
21 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh38 Chromosome 6, 42696715: 42696715
22 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh37 Chromosome 6, 42664453: 42664453
23 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh37 Chromosome 6, 42664734: 42664734
24 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh38 Chromosome 6, 42696996: 42696996
25 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh37 Chromosome 6, 42665044: 42665044
26 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh38 Chromosome 6, 42697306: 42697306
27 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh37 Chromosome 6, 42665194: 42665194
28 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh38 Chromosome 6, 42697456: 42697456
29 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh37 Chromosome 6, 42665271: 42665271
30 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh38 Chromosome 6, 42697533: 42697533
31 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh37 Chromosome 6, 42665820: 42665820
32 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh38 Chromosome 6, 42698082: 42698082
33 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh37 Chromosome 6, 42689610: 42689612
34 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh38 Chromosome 6, 42721872: 42721874
35 PRPH2 NM_000322.4(PRPH2): c.418_421dupTACT (p.Tyr141Leufs) duplication Pathogenic rs672601326 GRCh38 Chromosome 6, 42721914: 42721917
36 PRPH2 NM_000322.4(PRPH2): c.418_421dupTACT (p.Tyr141Leufs) duplication Pathogenic rs672601326 GRCh37 Chromosome 6, 42689652: 42689655
37 PRPH2 NM_000322.4(PRPH2): c.897_898delTG (p.Ser301Argfs) deletion Pathogenic rs61748429 GRCh38 Chromosome 6, 42698438: 42698439
38 PRPH2 NM_000322.4(PRPH2): c.897_898delTG (p.Ser301Argfs) deletion Pathogenic rs61748429 GRCh37 Chromosome 6, 42666176: 42666177
39 PRPH2 NM_000322.4(PRPH2): c.500G> A (p.Gly167Asp) single nucleotide variant Pathogenic rs61755789 GRCh38 Chromosome 6, 42721835: 42721835
40 PRPH2 NM_000322.4(PRPH2): c.500G> A (p.Gly167Asp) single nucleotide variant Pathogenic rs61755789 GRCh37 Chromosome 6, 42689573: 42689573
41 PRPH2 NM_000322.4(PRPH2): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs121918563 GRCh38 Chromosome 6, 42721781: 42721781
42 PRPH2 NM_000322.4(PRPH2): c.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs121918563 GRCh37 Chromosome 6, 42689519: 42689519
43 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh37 Chromosome 6, 42665859: 42665859
44 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh38 Chromosome 6, 42698121: 42698121
45 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh37 Chromosome 6, 42665879: 42665879
46 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh38 Chromosome 6, 42698141: 42698141
47 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh37 Chromosome 6, 42690131: 42690131
48 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh38 Chromosome 6, 42722393: 42722393
49 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh37 Chromosome 6, 42690354: 42690354
50 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh38 Chromosome 6, 42722616: 42722616

Expression for Macular Dystrophy, Patterned, 1

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Pathways for Macular Dystrophy, Patterned, 1

GO Terms for Macular Dystrophy, Patterned, 1

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