CRDHL2
MCID: CNR041
MIFTS: 18

Cone-Rod Dystrophy and Hearing Loss 2 (CRDHL2)

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 57 74 29 6
Crdhl2 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 japanese sisters (last curated march 2019)


HPO:

32
cone-rod dystrophy and hearing loss 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MeSH 44 D054062
MedGen 42 CN258248

Summaries for Cone-Rod Dystrophy and Hearing Loss 2

UniProtKB/Swiss-Prot : 74 Cone-rod dystrophy and hearing loss 2: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone- rod dystrophy is 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 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 phenotypes are sensorineural hearing impairment and photophobia

OMIM : 57 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)

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

Human phenotypes related to Cone-Rod Dystrophy and Hearing Loss 2:

32
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 photophobia 32 HP:0000613

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
photophobia
progressive loss of visual acuity
blurred ellipsoid zones on optical coherence tomography (oct)
discontinuous interdigitation zones on oct
reduction in b-wave amplitudes on electroretinography (erg)
more
Head And Neck Ears:
sensorineural hearing loss, mild high-frequency

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

Genetic tests related to Cone-Rod Dystrophy and Hearing Loss 2:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy and Hearing Loss 2 29 CEP250

Anatomical Context for Cone-Rod Dystrophy and Hearing Loss 2

Publications for Cone-Rod Dystrophy and Hearing Loss 2

Articles related to Cone-Rod Dystrophy and Hearing Loss 2:

# Title Authors PMID Year
1
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. 8 71
30459346 2018
2
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. 8 71
29718797 2018
3
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. 8 71
24780881 2014
4
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. 8
28005958 2016

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 GRCh37 Pos GRCh38 Pos
1 CEP250 NM_007186.6(CEP250): c.3463C> T (p.Arg1155Ter) single nucleotide variant Pathogenic 20:34085704-34085704 20:35497875-35497875
2 CEP250 NM_007186.6(CEP250): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic 20:34053898-34053898 20:35466073-35466073
3 CEP250 NM_007186.6(CEP250): c.562C> T (p.Arg188Ter) single nucleotide variant Pathogenic 20:34054860-34054860 20:35467035-35467035
4 CEP250 NM_007186.6(CEP250): c.3337A> T (p.Lys1113Ter) single nucleotide variant Pathogenic 20:34085578-34085578 20:35497749-35497749
5 CEP250 NM_007186.6(CEP250): c.4006C> T (p.Arg1336Ter) single nucleotide variant Pathogenic 20:34089779-34089779 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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