MCID: CNR013
MIFTS: 15

Cone-Rod Dystrophy 12

Categories: Genetic diseases, Eye 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 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 cone-rod dystrophy 2. An important gene associated with Cone-Rod Dystrophy 12 is PROM1 (Prominin 1). Affiliated tissues include eye, and related phenotypes are cone/cone-rod dystrophy and reduced visual acuity

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

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 10.0

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 cone/cone-rod dystrophy 32 HP:0000548
2 reduced visual acuity 32 HP:0007663

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

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

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

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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