CORD12
MCID: CNR013
MIFTS: 36

Cone-Rod Dystrophy 12 (CORD12)

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

Aliases & Classifications for Cone-Rod Dystrophy 12

MalaCards integrated aliases for Cone-Rod Dystrophy 12:

Name: Cone-Rod Dystrophy 12 57 12 72 29 13 6 15 70
Cord12 57 12 72
Dystrophy, Cone-Rod, Type 12 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant (in one family)

Miscellaneous:
onset in the first decade


HPO:

31

Classifications:



External Ids:

Disease Ontology 12 DOID:0111019
OMIM® 57 612657
OMIM Phenotypic Series 57 PS120970
MeSH 44 D000071700
MedGen 41 C2675210
UMLS 70 C2675210

Summaries for Cone-Rod Dystrophy 12

UniProtKB/Swiss-Prot : 72 Cone-rod dystrophy 12: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

MalaCards based summary : Cone-Rod Dystrophy 12, also known as cord12, is related to yemenite deaf-blind hypopigmentation syndrome and cone dystrophy. An important gene associated with Cone-Rod Dystrophy 12 is PROM1 (Prominin 1), and among its related pathways/superpathways is Visual Cycle in Retinal Rods. Affiliated tissues include eye, and related phenotypes are reduced visual acuity and nyctalopia

Disease Ontology : 12 A cone-rod dystrophy that has material basis in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15.

More information from OMIM: 612657 PS120970

Related Diseases for Cone-Rod Dystrophy 12

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
# Related Disease Score Top Affiliating Genes
1 yemenite deaf-blind hypopigmentation syndrome 29.7 GUCY2D AIPL1
2 cone dystrophy 28.8 PROM1 PITPNM3 GUCY2D GUCA1A AIPL1
3 cone-rod dystrophy 2 28.4 RIMS1 PROM1 PITPNM3 GUCY2D GUCA1A AIPL1
4 retinitis pigmentosa 27.8 ZNF513 RIMS1 PROM1 PITPNM3 GUCY2D GUCA1A
5 cone-rod dystrophy 7 10.1 RIMS1 PITPNM3
6 isolated macular dystrophy 10.0 PROM1 GUCA1A
7 pseudopapilledema 9.9 GUCY2D AIPL1
8 retinitis pigmentosa-deafness syndrome 9.9 PROM1 GUCA1A
9 leber congenital amaurosis 7 9.9 GUCY2D AIPL1
10 leber congenital amaurosis 16 9.9 GUCY2D AIPL1
11 leber congenital amaurosis 8 9.9 GUCY2D AIPL1
12 pigmented paravenous chorioretinal atrophy 9.9 GUCY2D AIPL1
13 bardet-biedl syndrome 5 9.9
14 neuroretinitis 9.9
15 retinitis 9.9
16 leber congenital amaurosis 6 9.9 GUCY2D AIPL1
17 scotoma 9.9 GUCY2D GUCA1A
18 leber congenital amaurosis 9 9.9 GUCY2D AIPL1
19 leber congenital amaurosis 10 9.9 GUCY2D AIPL1
20 cone-rod dystrophy 5 9.9 RIMS1 PITPNM3 GUCY2D
21 leber congenital amaurosis 3 9.9 GUCY2D AIPL1
22 leber congenital amaurosis 4 9.9 GUCY2D AIPL1
23 leber congenital amaurosis 2 9.8 GUCY2D AIPL1
24 color blindness 9.8 GUCY2D AIPL1
25 cone-rod dystrophy 6 9.8 GUCY2D GUCA1A
26 senior-loken syndrome 1 9.7 GUCY2D AIPL1
27 leber congenital amaurosis 12 9.7 GUCY2D GUCA1A AIPL1
28 eye degenerative disease 9.6 GUCY2D GUCA1A AIPL1
29 achromatopsia 9.6 GUCY2D GUCA1A AIPL1
30 pathologic nystagmus 9.6 GUCY2D AIPL1
31 cone-rod dystrophy 17 9.5 RIMS1 PITPNM3 GUCY2D AIPL1
32 cone-rod dystrophy 8 9.5 ZNF513 GUCY2D AIPL1
33 leber congenital amaurosis 1 9.5 PROM1 GUCY2D GUCA1A AIPL1
34 stargardt disease 9.5 PROM1 GUCY2D GUCA1A AIPL1
35 usher syndrome 9.5 PROM1 GUCY2D GUCA1A AIPL1
36 retinal disease 9.4 RIMS1 GUCY2D GUCA1A AIPL1
37 retinal degeneration 9.3 PROM1 PITPNM3 GUCY2D GUCA1A AIPL1
38 partial central choroid dystrophy 9.3 RIMS1 PITPNM3 GUCY2D GUCA1A AIPL1
39 hereditary choroidal atrophy 9.3 RIMS1 PITPNM3 GUCY2D GUCA1A AIPL1
40 choroidal dystrophy, central areolar, 1 9.3 RIMS1 PITPNM3 GUCY2D GUCA1A AIPL1
41 congenital stationary night blindness 9.0 ZNF513 RIMS1 GUCY2D GUCA1A AIPL1
42 leber plus disease 8.8 ZNF513 RIMS1 PROM1 GUCY2D GUCA1A AIPL1
43 fundus dystrophy 8.6 ZNF513 RIMS1 PROM1 PITPNM3 GUCY2D GUCA1A

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 12:



Diseases related to Cone-Rod Dystrophy 12

Symptoms & Phenotypes for Cone-Rod Dystrophy 12

Human phenotypes related to Cone-Rod Dystrophy 12:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 nyctalopia 31 HP:0000662
3 color vision defect 31 HP:0000551
4 cone/cone-rod dystrophy 31 HP:0000548
5 central scotoma 31 HP:0000603
6 abnormal light- and dark-adapted electroretinogram 31 HP:0008323
7 bull's eye maculopathy 31 HP:0011504

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
progressive visual loss
high myopia
bull's eye maculopathy
central scotomas
more

Clinical features from OMIM®:

612657 (Updated 20-May-2021)

Drugs & Therapeutics for Cone-Rod Dystrophy 12

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy 12

Genetic Tests for Cone-Rod Dystrophy 12

Genetic tests related to Cone-Rod Dystrophy 12:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 12 29 PROM1

Anatomical Context for Cone-Rod Dystrophy 12

MalaCards organs/tissues related to Cone-Rod Dystrophy 12:

40
Eye

Publications for Cone-Rod Dystrophy 12

Articles related to Cone-Rod Dystrophy 12:

# Title Authors PMID Year
1
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. 57 6
26702251 2015
2
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. 6 57
24474277 2014
3
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 57 6
18654668 2008
4
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 6
33546218 2021
5
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. 6
20393116 2010
6
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. 6
19718270 2009
7
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. 6
12657606 2003
8
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 6
10205271 1999
9
Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis. 61
31836589 2019
10
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. 61
21496248 2011

Variations for Cone-Rod Dystrophy 12

ClinVar genetic disease variations for Cone-Rod Dystrophy 12:

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROM1 NM_006017.3(PROM1):c.2281-20_2281-11del Deletion Pathogenic 253327 rs886037881 GRCh37: 4:15985989-15985998
GRCh38: 4:15984366-15984375
2 PROM1 NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) SNV Pathogenic 253326 rs886037880 GRCh37: 4:16010716-16010716
GRCh38: 4:16009093-16009093
3 PROM1 NM_006017.3(PROM1):c.262dup (p.Ile88fs) Duplication Pathogenic 560486 rs1210104601 GRCh37: 4:16040582-16040583
GRCh38: 4:16038959-16038960
4 PROM1 NM_006017.3(PROM1):c.2490-2A>G SNV Pathogenic 867032 GRCh37: 4:15981529-15981529
GRCh38: 4:15979906-15979906
5 PROM1 NM_006017.3(PROM1):c.439C>T (p.Gln147Ter) SNV Pathogenic 1028998 GRCh37: 4:16034997-16034997
GRCh38: 4:16033374-16033374
6 PROM1 NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) SNV Pathogenic 5610 rs137853006 GRCh37: 4:16014922-16014922
GRCh38: 4:16013299-16013299
7 PROM1 NM_006017.3(PROM1):c.1142-1G>A SNV Likely pathogenic 809626 rs752619497 GRCh37: 4:16010732-16010732
GRCh38: 4:16009109-16009109
8 PROM1 NM_006017.3(PROM1):c.2476G>C (p.Asp826His) SNV Likely pathogenic 1048148 GRCh37: 4:15982058-15982058
GRCh38: 4:15980435-15980435
9 PROM1 NM_006017.3(PROM1):c.380G>A (p.Gly127Glu) SNV Likely pathogenic 1048165 GRCh37: 4:16035056-16035056
GRCh38: 4:16033433-16033433
10 PROM1 NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) SNV Likely pathogenic 802057 rs374017889 GRCh37: 4:16025960-16025960
GRCh38: 4:16024337-16024337
11 PROM1 NM_006017.3(PROM1):c.1301+2T>C SNV Likely pathogenic 623211 rs775957498 GRCh37: 4:16010570-16010570
GRCh38: 4:16008947-16008947
12 PROM1 NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) Duplication Likely pathogenic 372711 rs543698823 GRCh37: 4:16008260-16008261
GRCh38: 4:16006637-16006638
13 PROM1 NM_006017.3(PROM1):c.2489+8T>C SNV Uncertain significance 902154 GRCh37: 4:15982037-15982037
GRCh38: 4:15980414-15980414
14 PROM1 NM_006017.3(PROM1):c.*198T>C SNV Uncertain significance 902975 GRCh37: 4:15970818-15970818
GRCh38: 4:15969195-15969195
15 PROM1 NM_006017.3(PROM1):c.*781G>A SNV Uncertain significance 900368 GRCh37: 4:15970235-15970235
GRCh38: 4:15968612-15968612
16 PROM1 NM_006017.3(PROM1):c.*1143A>C SNV Uncertain significance 902864 GRCh37: 4:15969873-15969873
GRCh38: 4:15968250-15968250
17 PROM1 NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) SNV Uncertain significance 902806 GRCh37: 4:16040595-16040595
GRCh38: 4:16038972-16038972
18 PROM1 NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) SNV Uncertain significance 902565 GRCh37: 4:15991381-15991381
GRCh38: 4:15989758-15989758
19 PROM1 NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) SNV Uncertain significance 348010 rs778896066 GRCh37: 4:16077375-16077375
GRCh38: 4:16075752-16075752
20 PROM1 NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) SNV Uncertain significance 347985 rs886059200 GRCh37: 4:15993911-15993911
GRCh38: 4:15992288-15992288
21 PROM1 NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) SNV Uncertain significance 348006 rs369512467 GRCh37: 4:16026889-16026889
GRCh38: 4:16025266-16025266
22 PROM1 NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) SNV Uncertain significance 347982 rs372632641 GRCh37: 4:15992846-15992846
GRCh38: 4:15991223-15991223
23 PROM1 NM_006017.3(PROM1):c.*580T>A SNV Uncertain significance 902098 GRCh37: 4:15970436-15970436
GRCh38: 4:15968813-15968813
24 PROM1 NM_006017.3(PROM1):c.*640T>A SNV Uncertain significance 901516 GRCh37: 4:15970376-15970376
GRCh38: 4:15968753-15968753
25 PROM1 NM_006017.3(PROM1):c.*1149A>G SNV Uncertain significance 901959 GRCh37: 4:15969867-15969867
GRCh38: 4:15968244-15968244
26 PROM1 NM_006017.3(PROM1):c.677C>T (p.Ala226Val) SNV Uncertain significance 809628 rs376198840 GRCh37: 4:16025935-16025935
GRCh38: 4:16024312-16024312
27 PROM1 NM_006017.3(PROM1):c.1579-12A>C SNV Uncertain significance 901585 GRCh37: 4:16000123-16000123
GRCh38: 4:15998500-15998500
28 PROM1 NM_006017.3(PROM1):c.*985C>G SNV Uncertain significance 901462 GRCh37: 4:15970031-15970031
GRCh38: 4:15968408-15968408
29 PROM1 NM_006017.3(PROM1):c.706G>A (p.Val236Met) SNV Uncertain significance 901286 GRCh37: 4:16025027-16025027
GRCh38: 4:16023404-16023404
30 PROM1 NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) SNV Uncertain significance 901091 GRCh37: 4:16008228-16008228
GRCh38: 4:16006605-16006605
31 PROM1 NM_006017.3(PROM1):c.*107G>T SNV Uncertain significance 900421 GRCh37: 4:15970909-15970909
GRCh38: 4:15969286-15969286
32 PROM1 NM_006017.3(PROM1):c.*189A>G SNV Uncertain significance 900420 GRCh37: 4:15970827-15970827
GRCh38: 4:15969204-15969204
33 PROM1 NM_006017.3(PROM1):c.*681C>G SNV Uncertain significance 900369 GRCh37: 4:15970335-15970335
GRCh38: 4:15968712-15968712
34 PROM1 NM_006017.3(PROM1):c.380G>T (p.Gly127Val) SNV Uncertain significance 900186 GRCh37: 4:16035056-16035056
GRCh38: 4:16033433-16033433
35 PROM1 NM_006017.3(PROM1):c.1002+5G>A SNV Uncertain significance 438212 rs1196489060 GRCh37: 4:16019941-16019941
GRCh38: 4:16018318-16018318
36 PROM1 NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) SNV Uncertain significance 864624 GRCh37: 4:16017830-16017830
GRCh38: 4:16016207-16016207
37 PROM1 NM_006017.3(PROM1):c.2397A>G (p.Gly799=) SNV Uncertain significance 899417 GRCh37: 4:15982137-15982137
GRCh38: 4:15980514-15980514
38 PROM1 NM_006017.3(PROM1):c.2540A>G (p.His847Arg) SNV Uncertain significance 931849 GRCh37: 4:15981060-15981060
GRCh38: 4:15979437-15979437
39 PROM1 NM_006017.3(PROM1):c.449A>G (p.Asn150Ser) SNV Uncertain significance 1028999 GRCh37: 4:16034987-16034987
GRCh38: 4:16033364-16033364
40 PROM1 NM_006017.3(PROM1):c.105A>G (p.Glu35=) SNV Uncertain significance 348011 rs886059205 GRCh37: 4:16077425-16077425
GRCh38: 4:16075802-16075802
41 PROM1 NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) SNV Uncertain significance 425331 rs761911901 GRCh37: 4:15992882-15992882
GRCh38: 4:15991259-15991259
42 PROM1 NM_006017.3(PROM1):c.1632G>T (p.Gly544=) SNV Uncertain significance 236524 rs753308387 GRCh37: 4:16000058-16000058
GRCh38: 4:15998435-15998435
43 PROM1 NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) SNV Uncertain significance 191189 rs140872693 GRCh37: 4:16026841-16026841
GRCh38: 4:16025218-16025218
44 PROM1 NM_006017.3(PROM1):c.-127A>G SNV Uncertain significance 348014 rs886059206 GRCh37: 4:16077656-16077656
GRCh38: 4:16076033-16076033
45 PROM1 NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) SNV Uncertain significance 347972 rs201910962 GRCh37: 4:15981049-15981049
GRCh38: 4:15979426-15979426
46 PROM1 NM_006017.3(PROM1):c.1218C>G (p.Leu406=) SNV Uncertain significance 347996 rs886059203 GRCh37: 4:16010655-16010655
GRCh38: 4:16009032-16009032
47 PROM1 NM_006017.3(PROM1):c.2373+13C>G SNV Uncertain significance 347976 rs886059199 GRCh37: 4:15985873-15985873
GRCh38: 4:15984250-15984250
48 PROM1 NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) SNV Uncertain significance 347986 rs886059201 GRCh37: 4:15995660-15995660
GRCh38: 4:15994037-15994037
49 PROM1 NM_006017.3(PROM1):c.*1070A>G SNV Uncertain significance 347964 rs886059195 GRCh37: 4:15969946-15969946
GRCh38: 4:15968323-15968323
50 PROM1 NM_006017.3(PROM1):c.1578+9G>C SNV Uncertain significance 347989 rs747638667 GRCh37: 4:16002110-16002110
GRCh38: 4:16000487-16000487

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 12:

72
# Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

Expression for Cone-Rod Dystrophy 12

Search GEO for disease gene expression data for Cone-Rod Dystrophy 12.

Pathways for Cone-Rod Dystrophy 12

Pathways related to Cone-Rod Dystrophy 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.6 GUCY2D GUCA1A

GO Terms for Cone-Rod Dystrophy 12

Cellular components related to Cone-Rod Dystrophy 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.35 RIMS1 PROM1 PITPNM3 GUCY2D GUCA1A
2 photoreceptor inner segment GO:0001917 9.32 GUCA1A AIPL1
3 photoreceptor disc membrane GO:0097381 9.26 GUCY2D GUCA1A
4 photoreceptor outer segment membrane GO:0042622 9.16 PROM1 GUCY2D
5 photoreceptor outer segment GO:0001750 8.8 PROM1 GUCY2D GUCA1A

Biological processes related to Cone-Rod Dystrophy 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.55 ZNF513 RIMS1 GUCY2D GUCA1A AIPL1
2 regulation of rhodopsin mediated signaling pathway GO:0022400 9.13 GUCY2D GUCA1A AIPL1
3 visual perception GO:0007601 9.02 ZNF513 RIMS1 GUCY2D GUCA1A AIPL1

Sources for Cone-Rod Dystrophy 12

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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