MCID: ISL145
MIFTS: 22

Isolated Macular Dystrophy

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Isolated Macular Dystrophy

MalaCards integrated aliases for Isolated Macular Dystrophy:

Name: Isolated Macular Dystrophy 58 6

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


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Orphanet 58 ORPHA519302

Summaries for Isolated Macular Dystrophy

MalaCards based summary : Isolated Macular Dystrophy is related to interval angle-closure glaucoma and stargardt macular degeneration. An important gene associated with Isolated Macular Dystrophy is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Affiliated tissues include eye, and related phenotypes are pigmentation and vision/eye

Related Diseases for Isolated Macular Dystrophy

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

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 interval angle-closure glaucoma 10.2 BEST1 ABCA4
2 stargardt macular degeneration 10.2 PRPH2 ABCA4
3 chorioretinal scar 10.2 BEST1 ABCA4
4 macular degeneration, age-related, 6 10.2 BEST1 ABCA4
5 macular degeneration, age-related, 4 10.2 BEST1 ABCA4
6 occult macular dystrophy 10.2 PRPH2 ABCA4
7 retinal drusen 10.2 BEST1 ABCA4
8 retinitis pigmentosa 73 10.1 IMPG1 CERKL
9 retinitis 10.1 PRPH2 CERKL ABCA4
10 cone-rod dystrophy 3 10.1 IMPG1 ABCA4
11 hereditary retinal dystrophy 10.1 PRPH2 BEST1 ABCA4
12 choroid disease 10.1 PRPH2 BEST1 ABCA4
13 doyne honeycomb retinal dystrophy 10.1 PRPH2 BEST1 ABCA4
14 night blindness 10.1 PRPH2 CERKL ABCA4
15 degeneration of macula and posterior pole 10.1 PRPH2 BEST1 ABCA4
16 choroideremia 10.1 PRPH2 BEST1 ABCA4
17 basal laminar drusen 10.1 IMPG1 BEST1 ABCA4
18 digenic disease 10.0 PRPH2 COL4A5
19 optic nerve hypoplasia, bilateral 10.0 BEST1 ABCA4
20 nystagmus 7, congenital, autosomal dominant 10.0 PROM1 ABCA4
21 usher syndrome type 2 10.0 PRPH2 CERKL ABCA4
22 macular dystrophy, vitelliform, 3 10.0 PRPH2 IMPG1 BEST1
23 macular dystrophy, vitelliform, 2 10.0 PRPH2 IMPG1 BEST1
24 nystagmus 2, congenital, autosomal dominant 10.0 PROM1 ABCA4
25 retinitis pigmentosa 26 10.0 ITGA4 CERKL
26 nystagmus 4, congenital, autosomal dominant 10.0 PROM1 ABCA4
27 retinitis pigmentosa 41 10.0 PROM1 CERKL
28 retinitis pigmentosa 25 10.0 PRPH2 IMPG1 CERKL
29 macular dystrophy, dominant cystoid 10.0 MAK BEST1 ABCA4
30 late-onset retinal degeneration 10.0 PRPH2 ABCA4
31 developmental and epileptic encephalopathy 12 10.0 ITGA4 CERKL
32 peripheral retinal degeneration 9.9 PRPH2 CERKL BEST1 ABCA4
33 retinitis pigmentosa 7 9.9 PRPH2 GUCA1A
34 fundus albipunctatus 9.9 PRPH2 CERKL BEST1 ABCA4
35 bestrophinopathy, autosomal recessive 9.9 PRPH2 IMPG1 BEST1 ABCA4
36 vitreoretinochoroidopathy 9.9 PRPH2 IMPG1 BEST1 ABCA4
37 retinoschisis 1, x-linked, juvenile 9.9 BEST1 ABCA4
38 scotoma 9.9 GUCA1A ABCA4
39 partial central choroid dystrophy 9.8 PRPH2 GUCA1A ABCA4
40 cone dystrophy 3 9.8 LOC118142757 GUCA1A
41 hereditary choroidal atrophy 9.8 PRPH2 GUCA1A ABCA4
42 retinitis pigmentosa-deafness syndrome 9.8 PROM1 LOC118142757
43 stargardt disease 1 9.8 PRPH2 PROM1 BEST1 ABCA4
44 cone-rod dystrophy 12 9.8 PROM1 GUCA1A
45 cone-rod dystrophy 6 9.7 PRPH2 GUCA1A BEST1 ABCA4
46 gyrate atrophy of choroid and retina 9.7 PRPH2 MAK CERKL BEST1 ABCA4
47 achromatopsia 9.6 PRPH2 GUCA1A BEST1 ABCA4
48 choroidal dystrophy, central areolar, 1 9.6 PRPH2 GUCA1A CERKL ABCA4
49 vitelliform macular dystrophy 9.6 PRPH2 MAK IMPG1 BEST1 ABCA4
50 leber congenital amaurosis 1 9.6 PRPH2 PROM1 GUCA1A

Graphical network of the top 20 diseases related to Isolated Macular Dystrophy:



Diseases related to Isolated Macular Dystrophy

Symptoms & Phenotypes for Isolated Macular Dystrophy

MGI Mouse Phenotypes related to Isolated Macular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.26 ABCA4 BEST1 PROM1 PRPH2
2 vision/eye MP:0005391 9.17 ABCA4 BEST1 CERKL COL4A5 GUCA1A PROM1

Drugs & Therapeutics for Isolated Macular Dystrophy

Search Clinical Trials , NIH Clinical Center for Isolated Macular Dystrophy

Genetic Tests for Isolated Macular Dystrophy

Anatomical Context for Isolated Macular Dystrophy

MalaCards organs/tissues related to Isolated Macular Dystrophy:

40
Eye

Publications for Isolated Macular Dystrophy

Articles related to Isolated Macular Dystrophy:

# Title Authors PMID Year
1
Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy. 61
33507209 2021
2
HOMOZYGOSITY FOR A NOVEL DOUBLE MUTANT ALLELE (G1961E/L857P) UNDERLIES CHILDHOOD-ONSET ABCA4-RELATED RETINOPATHY IN THE UNITED ARAB EMIRATES. 61
31318848 2020
3
CRX-linked macular dystrophy with intrafamilial variable expressivity. 61
30067412 2018

Variations for Isolated Macular Dystrophy

ClinVar genetic disease variations for Isolated Macular Dystrophy:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BEST1 NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) SNV Pathogenic 444253 rs886041141 11:61719315-61719315 11:61951843-61951843
2 BEST1 NM_004183.4(BEST1):c.247+2del Deletion Pathogenic 623772 rs1565387045 11:61722675-61722675 11:61955203-61955203
3 COL4A5 NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val) SNV Pathogenic 807800 rs104886173 X:107850042-107850042 X:108606812-108606812
4 PRPH2 NM_000322.5(PRPH2):c.331del (p.Ile111fs) Deletion Pathogenic 624247 rs1562434099 6:42689742-42689742 6:42722004-42722004
5 ABCA4 NM_000350.3(ABCA4):c.1912C>T (p.Pro638Ser) SNV Pathogenic 813128 1:94528158-94528158 1:94062602-94062602
6 ABCA4 NM_000350.3(ABCA4):c.2294G>C (p.Ser765Thr) SNV Pathogenic 813130 1:94522245-94522245 1:94056689-94056689
7 ABCA4 NM_000350.3(ABCA4):c.2579T>C (p.Val860Ala) SNV Pathogenic 813132 1:94520675-94520675 1:94055119-94055119
8 ABCA4 NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn) SNV Pathogenic 806169 rs1570426424 1:94568678-94568678 1:94103122-94103122
9 ABCA4 NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) SNV Pathogenic 813140 1:94480230-94480230 1:94014674-94014674
10 ABCA4 NM_000350.3(ABCA4):c.2588-161_2615del Deletion Pathogenic 813146 1:94517227-94517415 1:94051671-94051859
11 ABCA4 NM_000350.3(ABCA4):c.5198T>C (p.Met1733Thr) SNV Pathogenic 813148 1:94481409-94481409 1:94015853-94015853
12 MAK NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs) Deletion Pathogenic 444672 rs1347914291 6:10770433-10770436 6:10770200-10770203
13 PROM1 NM_006017.3(PROM1):c.1767+4A>G SNV Pathogenic 813204 4:15995606-15995606 4:15993983-15993983
14 ABCA4 NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) SNV Pathogenic 424902 rs368846708 1:94512518-94512518 1:94046962-94046962
15 IMPG1 NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter) SNV Pathogenic 493439 rs373792616 6:76744428-76744428 6:76034711-76034711
16 CERKL NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs) Duplication Pathogenic 425251 rs1064797278 2:182402944-182402945 2:181538217-181538218
17 LOC118142757 NM_000409.5(GUCA1A):c.359G>T (p.Arg120Leu) SNV Pathogenic 802212 rs1582323732 6:42146547-42146547 6:42178809-42178809
18 PRPH2 NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) SNV Pathogenic 425378 rs986748364 6:42672278-42672278 6:42704540-42704540

Expression for Isolated Macular Dystrophy

Search GEO for disease gene expression data for Isolated Macular Dystrophy.

Pathways for Isolated Macular Dystrophy

GO Terms for Isolated Macular Dystrophy

Cellular components related to Isolated Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.65 PRPH2 PROM1 MAK IMPG1 GUCA1A
2 photoreceptor inner segment GO:0001917 9.43 PRPH2 MAK LOC118142757 IMPG1 GUCA1A CERKL
3 photoreceptor disc membrane GO:0097381 9.33 LOC118142757 GUCA1A ABCA4
4 photoreceptor outer segment GO:0001750 9.17 PRPH2 PROM1 MAK IMPG1 GUCA1A CERKL

Biological processes related to Isolated Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.71 PRPH2 GUCA1A BEST1 ABCA4
2 phototransduction GO:0007602 9.43 LOC118142757 GUCA1A
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.37 LOC118142757 GUCA1A
4 detection of light stimulus involved in visual perception GO:0050908 9.32 PRPH2 BEST1
5 positive regulation of guanylate cyclase activity GO:0031284 9.26 LOC118142757 GUCA1A
6 positive regulation of cGMP-mediated signaling GO:0010753 9.16 LOC118142757 GUCA1A
7 photoreceptor cell maintenance GO:0045494 9.13 PROM1 MAK ABCA4
8 visual perception GO:0007601 9.1 PRPH2 LOC118142757 IMPG1 GUCA1A BEST1 ABCA4

Molecular functions related to Isolated Macular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium sensitive guanylate cyclase activator activity GO:0008048 8.96 LOC118142757 GUCA1A
2 guanylate cyclase regulator activity GO:0030249 8.62 LOC118142757 GUCA1A

Sources for Isolated Macular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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