CRDHL2
MCID: CNR041
MIFTS: 19

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 56 73 29 6
Crdhl2 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
cone-rod dystrophy and hearing loss 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 618358
OMIM Phenotypic Series 56 PS617236
MeSH 43 D054062

Summaries for Cone-Rod Dystrophy and Hearing Loss 2

UniProtKB/Swiss-Prot : 73 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). Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and photophobia

OMIM : 56 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:

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 photophobia 31 HP:0000613

Symptoms via clinical synopsis from OMIM:

56
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

MalaCards organs/tissues related to Cone-Rod Dystrophy and Hearing Loss 2:

40
Eye

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. 56 6
30459346 2018
2
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. 56 6
29718797 2018
3
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. 56 6
24780881 2014
4
Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP250 NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter)SNV Pathogenic 620658 rs749314857 20:34085704-34085704 20:35497875-35497875
2 CEP250 NM_007186.6(CEP250):c.361C>T (p.Arg121Ter)SNV Pathogenic 620659 rs1341298773 20:34053898-34053898 20:35466073-35466073
3 CEP250 NM_007186.6(CEP250):c.562C>T (p.Arg188Ter)SNV Pathogenic 620660 rs1369076411 20:34054860-34054860 20:35467035-35467035
4 CEP250 NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter)SNV Pathogenic 620661 rs1568820302 20:34085578-34085578 20:35497749-35497749
5 CEP250 NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter)SNV Pathogenic 620662 rs774702094 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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