CORD12
MCID: CNR013
MIFTS: 34

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 58 12 76 30 13 6 15 74
Cord12 58 12 76
Dystrophy, Cone-Rod, Type 12 41

Characteristics:

HPO:

33
cone-rod dystrophy 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111019
OMIM 58 612657
MeSH 45 D058499
MedGen 43 C2675210
UMLS 74 C2675210

Summaries for Cone-Rod Dystrophy 12

UniProtKB/Swiss-Prot : 76 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 hereditary choroidal atrophy and partial central choroid dystrophy. An important gene associated with Cone-Rod Dystrophy 12 is PROM1 (Prominin 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Adipogenesis. Affiliated tissues include pituitary, eye and bone, and related phenotypes are reduced visual acuity and cone/cone-rod dystrophy

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

Description from OMIM: 612657

Related Diseases for Cone-Rod Dystrophy 12

Diseases in the Cone-Rod Dystrophy 6 family:

Cone-Rod Dystrophy 2 Cone-Rod Dystrophy 1
Cone-Rod Dystrophy 5 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 41)
# Related Disease Score Top Affiliating Genes
1 hereditary choroidal atrophy 10.3 PLIN2 PROM1
2 partial central choroid dystrophy 10.3 PLIN2 PROM1
3 retinitis pigmentosa 26 10.2 CERKL NEUROD1
4 fundus dystrophy 10.2 BBS5 CERKL PROM1
5 cone-rod dystrophy 2 10.1
6 multiple endocrine neoplasia 10.1 CALCA GDNF
7 multiple endocrine neoplasia, type iib 10.0 CALCA GDNF
8 hypoadrenalism 10.0 CALCA GH1
9 brachial plexus lesion 10.0 CALCA GDNF
10 causalgia 10.0 CALCA GDNF
11 multiple endocrine neoplasia, type iia 10.0 CALCA GDNF
12 sebaceous gland disease 10.0 IGF1 PLIN2
13 pseudohypoparathyroidism, type ia 9.9 GH1 IGF1
14 central precocious puberty 9.9 GH1 IGF1
15 empty sella syndrome 9.9 GH1 IGF1
16 marasmus 9.9 GH1 IGF1
17 hyperpituitarism 9.9 GH1 IGF1
18 isolated growth hormone deficiency, type ib 9.9 GH1 IGF1
19 isolated growth hormone deficiency 9.9 GH1 IGF1
20 growth hormone deficiency 9.9 GH1 IGF1
21 pituitary adenoma 1, multiple types 9.9 GH1 IGF1
22 traumatic brain injury 9.9 GH1 IGF1
23 hypothyroidism, congenital, nongoitrous, 4 9.9 GH1 IGF1
24 laron syndrome 9.9 GH1 IGF1
25 isolated growth hormone deficiency, type ii 9.8 GH1 IGF1
26 carcinoid syndrome 9.8 CALCA IGF1
27 osteoporosis, juvenile 9.8 CALCA IGF1
28 neuroma 9.8 CALCA GDNF
29 pituitary tumors 9.8 GH1 IGF1
30 glucocorticoid-induced osteoporosis 9.8 CALCA IGF1
31 mccune-albright syndrome 9.8 GH1 IGF1
32 pituitary hormone deficiency, combined, 2 9.8 GH1 IGF1
33 endocrine organ benign neoplasm 9.7 CALCA IGF1
34 bone resorption disease 9.7 CALCA IGF1
35 pheochromocytoma 9.7 CALCA GAP43 GDNF
36 bone remodeling disease 9.7 CALCA IGF1
37 retinitis pigmentosa 9.6 CERKL GDNF NEUROD1 PLIN2 PROM1
38 pituitary gland disease 9.6 GH1 IGF1
39 fibrous dysplasia 9.6 CALCA GH1 IGF1
40 hypothyroidism 9.5 CALCA GH1 IGF1
41 hyperprolactinemia 9.5 GH1 IGF1

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:

33
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 33 HP:0007663
2 cone/cone-rod dystrophy 33 HP:0000548

Clinical features from OMIM:

612657

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 12:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 CERKL GAP43 NEUROD1 PLIN2 PROM1

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 30 PROM1

Anatomical Context for Cone-Rod Dystrophy 12

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

42
Pituitary, Eye, Bone, Brain

Publications for Cone-Rod Dystrophy 12

Articles related to Cone-Rod Dystrophy 12:

# Title Authors Year
1
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. ( 26702251 )
2015
2
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping. ( 24474277 )
2014
3
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. ( 21496248 )
2011
4
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy. ( 20393116 )
2010
5
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. ( 18654668 )
2008
6
An autosomal dominant bull's-eye macular dystrophy (MCDR2) that maps to the short arm of chromosome 4. ( 12657606 )
2003
7
A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. ( 10205271 )
1999

Variations for Cone-Rod Dystrophy 12

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

76
# Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

ClinVar genetic disease variations for Cone-Rod Dystrophy 12:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh37 Chromosome 4, 16014922: 16014922
2 PROM1 NM_006017.2(PROM1): c.1117C> T (p.Arg373Cys) single nucleotide variant Pathogenic rs137853006 GRCh38 Chromosome 4, 16013299: 16013299
3 PROM1 NM_006017.2(PROM1): c.604C> G (p.Arg202Gly) single nucleotide variant Uncertain significance rs140872693 GRCh37 Chromosome 4, 16026841: 16026841
4 PROM1 NM_006017.2(PROM1): c.604C> G (p.Arg202Gly) single nucleotide variant Uncertain significance rs140872693 GRCh38 Chromosome 4, 16025218: 16025218
5 PROM1 NM_006017.2(PROM1): c.1632G> T (p.Gly544=) single nucleotide variant Uncertain significance rs753308387 GRCh37 Chromosome 4, 16000058: 16000058
6 PROM1 NM_006017.2(PROM1): c.1632G> T (p.Gly544=) single nucleotide variant Uncertain significance rs753308387 GRCh38 Chromosome 4, 15998435: 15998435
7 PROM1 NM_006017.2(PROM1): c.1157T> A (p.Leu386Ter) single nucleotide variant Pathogenic rs886037880 GRCh38 Chromosome 4, 16009093: 16009093
8 PROM1 NM_006017.2(PROM1): c.1157T> A (p.Leu386Ter) single nucleotide variant Pathogenic rs886037880 GRCh37 Chromosome 4, 16010716: 16010716
9 PROM1 NM_006017.2(PROM1): c.2281-26_2281-17del deletion Pathogenic rs886037881 GRCh37 Chromosome 4, 15985995: 15986004
10 PROM1 NM_006017.2(PROM1): c.2281-26_2281-17del deletion Pathogenic rs886037881 GRCh38 Chromosome 4, 15984372: 15984381
11 PROM1 NM_006017.2(PROM1): c.1354dupT (p.Tyr452Leufs) duplication Pathogenic/Likely pathogenic rs543698823 GRCh37 Chromosome 4, 16008261: 16008261
12 PROM1 NM_006017.2(PROM1): c.1354dupT (p.Tyr452Leufs) duplication Pathogenic/Likely pathogenic rs543698823 GRCh38 Chromosome 4, 16006638: 16006638
13 PROM1 NM_006017.2(PROM1): c.1946C> T (p.Ser649Leu) single nucleotide variant Uncertain significance rs761911901 GRCh37 Chromosome 4, 15992882: 15992882
14 PROM1 NM_006017.2(PROM1): c.1946C> T (p.Ser649Leu) single nucleotide variant Uncertain significance rs761911901 GRCh38 Chromosome 4, 15991259: 15991259
15 PROM1 NM_006017.2(PROM1): c.262dup (p.Ile88Asnfs) duplication Pathogenic GRCh38 Chromosome 4, 16038960: 16038960
16 PROM1 NM_006017.2(PROM1): c.262dup (p.Ile88Asnfs) duplication Pathogenic GRCh37 Chromosome 4, 16040583: 16040583
17 PROM1 NM_006017.2(PROM1): c.1301+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 4, 16010570: 16010570
18 PROM1 NM_006017.2(PROM1): c.1301+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 4, 16008947: 16008947

Expression for Cone-Rod Dystrophy 12

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

Pathways for Cone-Rod Dystrophy 12

GO Terms for Cone-Rod Dystrophy 12

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

# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.46 CALCA GDNF GH1 IGF1
2 positive regulation of cell differentiation GO:0045597 9.26 GDNF NEUROD1
3 response to heat GO:0009408 9.02 IGF1
4 positive regulation of transcription regulatory region DNA binding GO:2000679 8.96 IGF1 NEUROD1
5 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.62 GH1 IGF1

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

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.13 GDNF GH1 IGF1
2 hormone activity GO:0005179 8.8 CALCA GH1 IGF1

Sources for Cone-Rod Dystrophy 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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