MDPT1
MCID: MCL059
MIFTS: 29

Macular Dystrophy, Patterned, 1 (MDPT1)

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

Aliases & Classifications for Macular Dystrophy, Patterned, 1

MalaCards integrated aliases for Macular Dystrophy, Patterned, 1:

Name: Macular Dystrophy, Patterned, 1 57 72 29 6
Patterned Dystrophy of Retinal Pigment Epithelium 57 72 70
Mdpt1 57 12 72
Butterfly Dystrophy of Retinal Pigment Epithelium 57 72
Macular Dystrophy, Butterfly-Shaped Pigmentary 57 72
Butterfly-Shaped Pigmentary Maculary Dystrophy 1 12
Dystrophy, Macular, Patterned, Type 1 39
Patterned Macular Dystrophy 1 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset usually in third decade of life


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0060866
OMIM® 57 169150
OMIM Phenotypic Series 57 PS169150
MeSH 44 D058499
UMLS 70 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) (Updated 05-Apr-2021)

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 retina, 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 : 72 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 11.7
2 patterned macular dystrophy 11.6
3 retinal dystrophy, reticular pigmentary, of posterior pole 10.9
4 macular dystrophy, patterned, 3 10.9

Symptoms & Phenotypes for Macular Dystrophy, Patterned, 1

Human phenotypes related to Macular Dystrophy, Patterned, 1:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 photophobia 31 occasional (7.5%) HP:0000613
2 nyctalopia 31 occasional (7.5%) HP:0000662
3 metamorphopsia 31 occasional (7.5%) HP:0012508
4 dark choroid 31 occasional (7.5%) HP:0025148
5 choroidal neovascularization 31 very rare (1%) HP:0011506
6 macular dystrophy 31 HP:0007754
7 reticular retinal dystrophy 31 HP:0007913

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 Macular Dystrophy, Patterned, 1 29 PRPH2

Anatomical Context for Macular Dystrophy, Patterned, 1

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

40
Retina

Publications for Macular Dystrophy, Patterned, 1

Articles related to Macular Dystrophy, Patterned, 1:

(show all 20)
# Title Authors PMID Year
1
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. 57 6
23847139 2013
2
Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections. 6 57
22466463 2012
3
A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. 57 6
15370544 2004
4
Founder effect, seen in the British population, of the 172 peripherin/RDS mutation-and further refinement of genetic positioning of the peripherin/RDS gene. 6 57
9443872 1998
5
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene. 6 57
7710395 1995
6
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea. 57 6
8251014 1993
7
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. 6 57
8485574 1993
8
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
9
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 6
30718709 2019
10
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. 6
25001182 2014
11
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. 6
11297544 2001
12
Pattern dystrophies of the retinal pigment epithelium. 57
8689482 1996
13
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. 6
8202715 1994
14
Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. 6
8240110 1993
15
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. 6
1684223 1991
16
Vitelliform dystrophy and pattern dystrophy of the retinal pigment epithelium: concomitant presence in a family. 57
3718916 1986
17
Pattern dystrophy of the retinal pigment epithelium. 57
6984500 1982
18
Pigment epithelial pattern dystrophy. Four different manifestations in a family. 57
7115165 1982
19
Pattern dystrophy of the pigment epithelium. 57
900215 1977
20
Patterned dystrophies of the retinal pigment epithelium. 57
843272 1977

Variations for Macular Dystrophy, Patterned, 1

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

6 (show top 50) (show all 129)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPH2 NM_000322.5(PRPH2):c.500G>A (p.Gly167Asp) SNV Pathogenic 13169 rs61755789 GRCh37: 6:42689573-42689573
GRCh38: 6:42721835-42721835
2 PRPH2 NM_000322.5(PRPH2):c.897_898del (p.Ser301fs) Deletion Pathogenic 13171 rs61748429 GRCh37: 6:42666176-42666177
GRCh38: 6:42698438-42698439
3 PRPH2 NM_000322.5(PRPH2):c.418_421dup (p.Tyr141fs) Duplication Pathogenic 13174 rs672601326 GRCh37: 6:42689651-42689652
GRCh38: 6:42721913-42721914
4 PRPH2 NM_000322.5(PRPH2):c.637T>C (p.Cys213Arg) SNV Pathogenic 98691 rs61755802 GRCh37: 6:42672294-42672294
GRCh38: 6:42704556-42704556
5 PRPH2 NM_000322.5(PRPH2):c.829-4C>G SNV Pathogenic 802213 rs1582759785 GRCh37: 6:42666249-42666249
GRCh38: 6:42698511-42698511
6 PRPH2 NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter) SNV Pathogenic 802214 rs1582764697 GRCh37: 6:42672194-42672194
GRCh38: 6:42704456-42704456
7 PRPH2 NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter) SNV Pathogenic 802215 rs1203908646 GRCh37: 6:42689846-42689846
GRCh38: 6:42722108-42722108
8 PRPH2 NM_000322.5(PRPH2):c.458_460AGA[1] (p.Lys154del) Microsatellite Pathogenic 13178 rs61755786 GRCh37: 6:42689610-42689612
GRCh38: 6:42721872-42721874
9 PRPH2 NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) SNV Pathogenic 623212 rs121918567 GRCh37: 6:42672347-42672347
GRCh38: 6:42704609-42704609
10 PRPH2 NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter) SNV Pathogenic 973708 GRCh37: 6:42672319-42672319
GRCh38: 6:42704581-42704581
11 PRPH2 NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) SNV Pathogenic 13179 rs61755771 GRCh37: 6:42689937-42689937
GRCh38: 6:42722199-42722199
12 PRPH2 NM_000322.5(PRPH2):c.310_313del (p.Ile104fs) Deletion Pathogenic 958838 GRCh37: 6:42689760-42689763
GRCh38: 6:42722022-42722025
13 PRPH2 NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter) SNV Pathogenic 866925 GRCh37: 6:42672223-42672223
GRCh38: 6:42704485-42704485
14 PRPH2 NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) SNV Pathogenic 13165 rs121918563 GRCh37: 6:42689519-42689519
GRCh38: 6:42721781-42721781
15 PRPH2 NM_000322.5(PRPH2):c.828+3A>T SNV Pathogenic 98713 rs281865373 GRCh37: 6:42672100-42672100
GRCh38: 6:42704362-42704362
16 PRPH2 NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) SNV Pathogenic 13164 rs61755806 GRCh37: 6:42672284-42672284
GRCh38: 6:42704546-42704546
17 PRPH2 NM_000322.5(PRPH2):c.639C>G (p.Cys213Trp) SNV Pathogenic 941494 GRCh37: 6:42672292-42672292
GRCh38: 6:42704554-42704554
18 PRPH2 NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) SNV Pathogenic 98690 rs61755801 GRCh37: 6:42672296-42672296
GRCh38: 6:42704558-42704558
19 PRPH2 NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) SNV Pathogenic 98703 rs61755814 GRCh37: 6:42672216-42672216
GRCh38: 6:42704478-42704478
20 PRPH2 NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) SNV Pathogenic 13167 rs61755793 GRCh37: 6:42689558-42689558
GRCh38: 6:42721820-42721820
21 PRPH2 NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) SNV Pathogenic 98666 rs61755781 GRCh37: 6:42689651-42689651
GRCh38: 6:42721913-42721913
22 PRPH2 NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) SNV Pathogenic 437965 rs139185976 GRCh37: 6:42672308-42672308
GRCh38: 6:42704570-42704570
23 PRPH2 NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg) SNV Pathogenic 13173 rs61755798 GRCh37: 6:42672302-42672302
GRCh38: 6:42704564-42704564
24 PRPH2 NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) SNV Pathogenic 98666 rs61755781 GRCh37: 6:42689651-42689651
GRCh38: 6:42721913-42721913
25 PRPH2 NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) SNV Pathogenic 13183 rs61755783 GRCh37: 6:42689649-42689649
GRCh38: 6:42721911-42721911
26 PRPH2 NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) SNV Pathogenic 13170 rs61755792 GRCh37: 6:42689559-42689559
GRCh38: 6:42721821-42721821
27 PRPH2 NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) SNV Pathogenic/Likely pathogenic 13179 rs61755771 GRCh37: 6:42689937-42689937
GRCh38: 6:42722199-42722199
28 PRPH2 NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter) SNV Likely pathogenic 973722 GRCh37: 6:42672348-42672348
GRCh38: 6:42704610-42704610
29 PRPH2 NM_000322.5(PRPH2):c.903_906del (p.Ser301fs) Deletion Likely pathogenic 866239 GRCh37: 6:42666168-42666171
GRCh38: 6:42698430-42698433
30 PRPH2 NM_000322.5(PRPH2):c.794T>G (p.Met265Arg) SNV Likely pathogenic 812385 rs1582764600 GRCh37: 6:42672137-42672137
GRCh38: 6:42704399-42704399
31 PRPH2 NM_000322.5(PRPH2):c.597del (p.Asn199fs) Deletion Likely pathogenic 973706 GRCh37: 6:42672334-42672334
GRCh38: 6:42704596-42704596
32 PRPH2 NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) SNV Likely pathogenic 813079 GRCh37: 6:42672278-42672278
GRCh38: 6:42704540-42704540
33 PRPH2 NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) SNV Likely pathogenic 860907 GRCh37: 6:42672272-42672272
GRCh38: 6:42704534-42704534
34 PRPH2 NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile) SNV Likely pathogenic 847943 GRCh37: 6:42672248-42672248
GRCh38: 6:42704510-42704510
35 PRPH2 NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) SNV Likely pathogenic 13165 rs121918563 GRCh37: 6:42689519-42689519
GRCh38: 6:42721781-42721781
36 PRPH2 NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln) SNV Likely pathogenic 973718 GRCh37: 6:42672170-42672170
GRCh38: 6:42704432-42704432
37 PRPH2 NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) SNV Likely pathogenic 623212 rs121918567 GRCh37: 6:42672347-42672347
GRCh38: 6:42704609-42704609
38 PRPH2 NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) SNV Likely pathogenic 13170 rs61755792 GRCh37: 6:42689559-42689559
GRCh38: 6:42721821-42721821
39 PRPH2 NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) SNV Likely pathogenic 13183 rs61755783 GRCh37: 6:42689649-42689649
GRCh38: 6:42721911-42721911
40 PRPH2 NM_000322.5(PRPH2):c.605G>A (p.Gly202Glu) SNV Likely pathogenic 971980 GRCh37: 6:42672326-42672326
GRCh38: 6:42704588-42704588
41 PRPH2 NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs) Deletion Likely pathogenic 1048171 GRCh37: 6:42672305-42672320
GRCh38: 6:42704567-42704582
42 PRPH2 NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys) SNV Likely pathogenic 866955 GRCh37: 6:42689536-42689536
GRCh38: 6:42721798-42721798
43 PRPH2 NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) SNV Conflicting interpretations of pathogenicity 98653 rs61755770 GRCh37: 6:42689940-42689940
GRCh38: 6:42722202-42722202
44 PRPH2 NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) SNV Uncertain significance 908040 GRCh37: 6:42689727-42689727
GRCh38: 6:42721989-42721989
45 PRPH2 NM_000322.5(PRPH2):c.249C>T (p.Tyr83=) SNV Uncertain significance 98658 rs61755775 GRCh37: 6:42689824-42689824
GRCh38: 6:42722086-42722086
46 PRPH2 NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) SNV Uncertain significance 908107 GRCh37: 6:42689906-42689906
GRCh38: 6:42722168-42722168
47 PRPH2 NM_000322.5(PRPH2):c.*1533A>G SNV Uncertain significance 908376 GRCh37: 6:42664500-42664500
GRCh38: 6:42696762-42696762
48 PRPH2 NM_000322.5(PRPH2):c.*350C>T SNV Uncertain significance 908772 GRCh37: 6:42665683-42665683
GRCh38: 6:42697945-42697945
49 PRPH2 NM_000322.5(PRPH2):c.*152G>C SNV Uncertain significance 908832 GRCh37: 6:42665881-42665881
GRCh38: 6:42698143-42698143
50 PRPH2 NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) SNV Uncertain significance 908960 GRCh37: 6:42666119-42666119
GRCh38: 6:42698381-42698381

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

72
# Symbol AA change Variation ID SNP ID
1 PRPH2 p.Gly68Arg VAR_006857 rs61755774
2 PRPH2 p.Asp157Asn VAR_006863 rs61755787
3 PRPH2 p.Gly167Asp VAR_006865 rs61755789
4 PRPH2 p.Arg172Gly VAR_006866 rs61755792
5 PRPH2 p.Pro210Arg VAR_006874 rs61755798
6 PRPH2 p.Cys213Arg VAR_006879 rs61755802
7 PRPH2 p.Arg220Gln VAR_006885 rs61755810
8 PRPH2 p.Arg220Trp VAR_006886 rs61755809
9 PRPH2 p.Gly167Ser VAR_032052 rs527236098

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
17 EFO
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19 FMA
20 GARD
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29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
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69 Tocris
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71 UMLS via Orphanet
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