CORD12
MCID: CNR013
MIFTS: 32

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 75 29 13 6 15 73
Cord12 57 12 75
Dystrophy, Cone-Rod, Type 12 40

Characteristics:

HPO:

32
cone-rod dystrophy 12:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612657
Disease Ontology 12 DOID:0111019
MedGen 42 C2675210
MeSH 44 D058499
UMLS 73 C2675210

Summaries for Cone-Rod Dystrophy 12

UniProtKB/Swiss-Prot : 75 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 eye, brain and colon, 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 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 29)
# Related Disease Score Top Affiliating Genes
1 hereditary choroidal atrophy 10.1 PLIN2 PROM1
2 partial central choroid dystrophy 10.1 PLIN2 PROM1
3 retinitis pigmentosa 26 10.1 CERKL NEUROD1
4 cone-rod dystrophy 2 10.1
5 nephronophthisis 15 10.1 BBS5 ENSG00000251569
6 bardet-biedl syndrome 5 10.1 BBS5 ENSG00000251569
7 sebaceous gland disease 10.0 IGF1 PLIN2
8 pseudohypoparathyroidism, type ia 10.0 GH1 IGF1
9 empty sella syndrome 10.0 GH1 IGF1
10 marasmus 10.0 GH1 IGF1
11 hyperpituitarism 10.0 GH1 IGF1
12 isolated growth hormone deficiency 10.0 GH1 IGF1
13 isolated growth hormone deficiency, type ib 10.0 GH1 IGF1
14 growth hormone deficiency 10.0 GH1 IGF1
15 pituitary adenoma 1, multiple types 10.0 GH1 IGF1
16 traumatic brain injury 10.0 GH1 IGF1
17 hypothyroidism, congenital, nongoitrous, 4 10.0 GH1 IGF1
18 laron syndrome 10.0 GH1 IGF1
19 isolated growth hormone deficiency, type ii 9.9 GH1 IGF1
20 pituitary tumors 9.9 GH1 IGF1
21 mccune-albright syndrome 9.9 GH1 IGF1
22 pituitary hormone deficiency, combined, 2 9.9 GH1 IGF1
23 fibrous dysplasia 9.9 GH1 IGF1
24 fundus dystrophy 9.9 BBS5 CERKL ENSG00000251569 PROM1
25 pituitary gland disease 9.9 GH1 IGF1
26 hyperprolactinemia 9.9 GH1 IGF1
27 craniopharyngioma 9.8 GH1 IGF1
28 pituitary adenoma, prolactin-secreting 9.8 GH1 IGF1
29 retinitis pigmentosa 9.8 CERKL GDNF NEUROD1 PLIN2 PROM1

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

Clinical features from OMIM:

612657

Human phenotypes related to Cone-Rod Dystrophy 12:

32
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 cone/cone-rod dystrophy 32 HP:0000548

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 12:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 BBS5 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 29 PROM1

Anatomical Context for Cone-Rod Dystrophy 12

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

41
Eye, Brain, Colon, Pituitary

Publications for Cone-Rod Dystrophy 12

Variations for Cone-Rod Dystrophy 12

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

75
# Symbol AA change Variation ID SNP ID
1 PROM1 p.Arg373Cys VAR_057961 rs137853006

ClinVar genetic disease variations for Cone-Rod Dystrophy 12:

6
# 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.1557C> A (p.Tyr519Ter) single nucleotide variant Pathogenic rs137853907 GRCh37 Chromosome 4, 16002140: 16002140
4 PROM1 NM_006017.2(PROM1): c.1557C> A (p.Tyr519Ter) single nucleotide variant Pathogenic rs137853907 GRCh38 Chromosome 4, 16000517: 16000517
5 PROM1 NM_006017.2(PROM1): c.1157T> A (p.Leu386Ter) single nucleotide variant Pathogenic rs886037880 GRCh38 Chromosome 4, 16009093: 16009093
6 PROM1 NM_006017.2(PROM1): c.1157T> A (p.Leu386Ter) single nucleotide variant Pathogenic rs886037880 GRCh37 Chromosome 4, 16010716: 16010716
7 PROM1 NM_006017.2(PROM1): c.2281-26_2281-17del deletion Pathogenic rs886037881 GRCh37 Chromosome 4, 15985995: 15986004
8 PROM1 NM_006017.2(PROM1): c.2281-26_2281-17del deletion Pathogenic rs886037881 GRCh38 Chromosome 4, 15984372: 15984381
9 PROM1 NM_006017.2(PROM1): c.262dup (p.Ile88Asnfs) duplication Pathogenic GRCh38 Chromosome 4, 16038960: 16038960
10 PROM1 NM_006017.2(PROM1): c.262dup (p.Ile88Asnfs) duplication Pathogenic GRCh37 Chromosome 4, 16040583: 16040583

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 11.46 IGF1 NEUROD1 PROM1
2 11.25 GH1 IGF1 PLIN2
3 10.82 GDNF IGF1 NEUROD1 PROM1

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 BBSome GO:0034464 8.62 BBS5 ENSG00000251569

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell differentiation GO:0045597 9.16 GDNF NEUROD1
2 positive regulation of transcription regulatory region DNA binding GO:2000679 8.96 IGF1 NEUROD1
3 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 8.8 GDNF GH1 IGF1

Sources for Cone-Rod Dystrophy 12

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
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