MCID: CNR041
MIFTS: 7

Cone-Rod Dystrophy and Hearing Loss 2

Categories: Ear diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Cone-Rod Dystrophy and Hearing Loss 2

MalaCards integrated aliases for Cone-Rod Dystrophy and Hearing Loss 2:

Name: Cone-Rod Dystrophy and Hearing Loss 2 58 6
Crdhl2 58

Classifications:



External Ids:

OMIM 58 618358

Summaries for Cone-Rod Dystrophy and Hearing Loss 2

OMIM : 58 Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss (Kubota et al., 2018). For a discussion of genetic heterogeneity of cone-rod dystrophy and hearing loss, see CRDHL1 (617236). (618358)

MalaCards based summary : Cone-Rod Dystrophy and Hearing Loss 2, is also known as crdhl2. An important gene associated with Cone-Rod Dystrophy and Hearing Loss 2 is CEP250 (Centrosomal Protein 250).

Related Diseases for Cone-Rod Dystrophy and Hearing Loss 2

Diseases in the Cone-Rod Dystrophy and Hearing Loss 1 family:

Cone-Rod Dystrophy and Hearing Loss 2

Symptoms & Phenotypes for Cone-Rod Dystrophy and Hearing Loss 2

Clinical features from OMIM:

618358

Drugs & Therapeutics for Cone-Rod Dystrophy and Hearing Loss 2

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy and Hearing Loss 2

Genetic Tests for Cone-Rod Dystrophy and Hearing Loss 2

Anatomical Context for Cone-Rod Dystrophy and Hearing Loss 2

Publications for Cone-Rod Dystrophy and Hearing Loss 2

Variations for Cone-Rod Dystrophy and Hearing Loss 2

ClinVar genetic disease variations for Cone-Rod Dystrophy and Hearing Loss 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP250 NM_007186.6(CEP250): c.3463C> T (p.Arg1155Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 35497875: 35497875
2 CEP250 NM_007186.6(CEP250): c.3463C> T (p.Arg1155Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 34085704: 34085704
3 CEP250 NM_007186.4: c.361C> T single nucleotide variant Pathogenic
4 CEP250 NM_007186.4: c.562C> T single nucleotide variant Pathogenic
5 CEP250 NM_007186.6(CEP250): c.3337A> T (p.Lys1113Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 35497749: 35497749
6 CEP250 NM_007186.6(CEP250): c.3337A> T (p.Lys1113Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 34085578: 34085578
7 CEP250 NM_007186.6(CEP250): c.4006C> T (p.Arg1336Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 34089779: 34089779
8 CEP250 NM_007186.6(CEP250): c.4006C> T (p.Arg1336Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 35501952: 35501952

Expression for Cone-Rod Dystrophy and Hearing Loss 2

Search GEO for disease gene expression data for Cone-Rod Dystrophy and Hearing Loss 2.

Pathways for Cone-Rod Dystrophy and Hearing Loss 2

GO Terms for Cone-Rod Dystrophy and Hearing Loss 2

Sources for Cone-Rod Dystrophy and Hearing Loss 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
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35 ICD10 via Orphanet
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50 NCI
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55 NINDS
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58 OMIM
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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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