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 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 11.6
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 glaucoma-related pigment dispersion syndrome 10.0
7 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:

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 6)
# 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 reticular retinal dystrophy 32 HP:0007913
6 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
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:

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 104)
# 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.554T> C (p.Leu185Pro) single nucleotide variant Pathogenic rs121918563 GRCh38 Chromosome 6, 42721781: 42721781
3 PRPH2 NM_000322.4(PRPH2): c.500G> A (p.Gly167Asp) single nucleotide variant Pathogenic rs61755789 GRCh37 Chromosome 6, 42689573: 42689573
4 PRPH2 NM_000322.4(PRPH2): c.500G> A (p.Gly167Asp) single nucleotide variant Pathogenic rs61755789 GRCh38 Chromosome 6, 42721835: 42721835
5 PRPH2 NM_000322.4(PRPH2): c.897_898delTG (p.Ser301Argfs) deletion Pathogenic rs61748429 GRCh37 Chromosome 6, 42666176: 42666177
6 PRPH2 NM_000322.4(PRPH2): c.897_898delTG (p.Ser301Argfs) deletion Pathogenic rs61748429 GRCh38 Chromosome 6, 42698438: 42698439
7 PRPH2 NM_000322.4(PRPH2): c.418_421dupTACT (p.Tyr141Leufs) duplication Pathogenic rs672601326 GRCh37 Chromosome 6, 42689652: 42689655
8 PRPH2 NM_000322.4(PRPH2): c.418_421dupTACT (p.Tyr141Leufs) duplication Pathogenic rs672601326 GRCh38 Chromosome 6, 42721914: 42721917
9 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh38 Chromosome 6, 42721872: 42721874
10 PRPH2 NM_000322.4(PRPH2): c.461_463delAGA (p.Lys154del) deletion Pathogenic rs61755786 GRCh37 Chromosome 6, 42689610: 42689612
11 PRPH2 NM_000322.4(PRPH2): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs61755781 GRCh37 Chromosome 6, 42689651: 42689651
12 PRPH2 NM_000322.4(PRPH2): c.422A> G (p.Tyr141Cys) single nucleotide variant Pathogenic rs61755781 GRCh38 Chromosome 6, 42721913: 42721913
13 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh37 Chromosome 6, 42672294: 42672294
14 PRPH2 NM_000322.4(PRPH2): c.637T> C (p.Cys213Arg) single nucleotide variant Pathogenic rs61755802 GRCh38 Chromosome 6, 42704556: 42704556
15 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh37 Chromosome 6, 42666020: 42666020
16 PRPH2 NM_000322.4(PRPH2): c.*13C> T single nucleotide variant Benign/Likely benign rs361524 GRCh38 Chromosome 6, 42698282: 42698282
17 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Uncertain significance rs189358082 GRCh37 Chromosome 6, 42672130: 42672130
18 PRPH2 NM_000322.4(PRPH2): c.801C> T (p.Val267=) single nucleotide variant Uncertain significance rs189358082 GRCh38 Chromosome 6, 42704392: 42704392
19 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh38 Chromosome 6, 42696715: 42696715
20 PRPH2 NM_000322.4(PRPH2): c.*1580C> G single nucleotide variant Uncertain significance rs886061399 GRCh37 Chromosome 6, 42664453: 42664453
21 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh37 Chromosome 6, 42664734: 42664734
22 PRPH2 NM_000322.4(PRPH2): c.*1299C> T single nucleotide variant Uncertain significance rs535380944 GRCh38 Chromosome 6, 42696996: 42696996
23 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh37 Chromosome 6, 42665044: 42665044
24 PRPH2 NM_000322.4(PRPH2): c.*989G> A single nucleotide variant Likely benign rs142990052 GRCh38 Chromosome 6, 42697306: 42697306
25 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh37 Chromosome 6, 42665194: 42665194
26 PRPH2 NM_000322.4(PRPH2): c.*839G> A single nucleotide variant Likely benign rs73426405 GRCh38 Chromosome 6, 42697456: 42697456
27 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh37 Chromosome 6, 42665271: 42665271
28 PRPH2 NM_000322.4(PRPH2): c.*762C> T single nucleotide variant Likely benign rs1758213 GRCh38 Chromosome 6, 42697533: 42697533
29 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh37 Chromosome 6, 42665820: 42665820
30 PRPH2 NM_000322.4(PRPH2): c.*213A> C single nucleotide variant Uncertain significance rs886061402 GRCh38 Chromosome 6, 42698082: 42698082
31 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh37 Chromosome 6, 42665859: 42665859
32 PRPH2 NM_000322.4(PRPH2): c.*174C> T single nucleotide variant Likely benign rs73426412 GRCh38 Chromosome 6, 42698121: 42698121
33 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh37 Chromosome 6, 42665879: 42665879
34 PRPH2 NM_000322.4(PRPH2): c.*154C> T single nucleotide variant Uncertain significance rs886061403 GRCh38 Chromosome 6, 42698141: 42698141
35 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh37 Chromosome 6, 42690131: 42690131
36 PRPH2 NM_000322.4(PRPH2): c.-59G> A single nucleotide variant Uncertain significance rs886061405 GRCh38 Chromosome 6, 42722393: 42722393
37 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh37 Chromosome 6, 42690354: 42690354
38 PRPH2 NM_000322.4(PRPH2): c.-282G> A single nucleotide variant Uncertain significance rs886061408 GRCh38 Chromosome 6, 42722616: 42722616
39 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh38 Chromosome 6, 42696608: 42696608
40 PRPH2 NM_000322.4(PRPH2): c.*1687C> T single nucleotide variant Uncertain significance rs139177846 GRCh37 Chromosome 6, 42664346: 42664346
41 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh38 Chromosome 6, 42696761: 42696761
42 PRPH2 NM_000322.4(PRPH2): c.*1534T> C single nucleotide variant Likely benign rs115252154 GRCh37 Chromosome 6, 42664499: 42664499
43 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh37 Chromosome 6, 42664625: 42664625
44 PRPH2 NM_000322.4(PRPH2): c.*1408G> C single nucleotide variant Uncertain significance rs573667549 GRCh38 Chromosome 6, 42696887: 42696887
45 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh37 Chromosome 6, 42664658: 42664658
46 PRPH2 NM_000322.4(PRPH2): c.*1375C> T single nucleotide variant Likely benign rs405043 GRCh38 Chromosome 6, 42696920: 42696920
47 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh37 Chromosome 6, 42665116: 42665116
48 PRPH2 NM_000322.4(PRPH2): c.*917G> A single nucleotide variant Uncertain significance rs185036139 GRCh38 Chromosome 6, 42697378: 42697378
49 PRPH2 NM_000322.4(PRPH2): c.*898C> A single nucleotide variant Likely benign rs3176988 GRCh37 Chromosome 6, 42665135: 42665135
50 PRPH2 NM_000322.4(PRPH2): c.*898C> A single nucleotide variant Likely benign rs3176988 GRCh38 Chromosome 6, 42697397: 42697397

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....