CRDHL2
MCID: CNR041
MIFTS: 23

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 58 30 6
Crdhl2 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


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, also known as crdhl2, is related to perrault syndrome 1 and schizophrenia. An important gene associated with Cone-Rod Dystrophy and Hearing Loss 2 is CEP250 (Centrosomal Protein 250). Affiliated tissues include eye.

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

Diseases related to Cone-Rod Dystrophy and Hearing Loss 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.5 MMVP1 MMVP2 MMVP3 MYP1 MYP11 OTSC3
2 schizophrenia 10.8 SCZD1 SCZD10 SCZD2 SCZD3

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

Symptoms via clinical synopsis from OMIM:

58
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 30 AA1 AA2 ACLS AD5 ADFN AF8T AFA AFD1 AGMX2 AHR AIC AIH3 AIS1 AIS2 AIS3 AKR1C2 ALS3 ALS5 ALS7 AMCN ANIB1 ANIB2 ANIB3 ANIB4 ANOP1 APMR2 ARVD3 ARVD4 ASD1 ASDP ATD ATHS AUNX1 AVSD1 AZF1 BACH2 BMIQ1 BMIQ2 BMIQ3 BMIQ5 BMIQ6 BRCA3 CACD CANDN1 CCA1 CCAL1 CCT CCV CDAN3 CDB2 CELIAC2 CEP250 CGF1 CKBE CLA3 CLAM CLN9 CMD1B CMD1H CMD1K CMD1Q CMM CMT2G CMTX2 CMTX3 CNA1 CNC2 COA7 COD2 COLGALT1 CORD1 CORD17 CORD8 CPAT1 CRCS6 CRCS7 CTAA1 CTAA2 CTD CTPL1 CTPP5 CUX1 CXB3S CYMD CYP4F22 DDU DEGS1 DEL16P11.2 DFNA16 DFNA18 DFNA21 DFNA24 DFNA30 DFNA31 DFNA33 DFNA43 DFNA47 DFNA49 DFNA53 DFNA54 DFNA58 DFNA59 DFNA7 DFNB13 DFNB14 DFNB17 DFNB20 DFNB27 DFNB32 DFNB33 DFNB38 DFNB40 DFNB45 DFNB46 DFNB47 DFNB5 DFNB51 DFNB55 DFNB62 DFNB65 DFNB71 DFNB81 DFNB83 DFNB85 DFNB96 DFNM1 DFNX3 DFNY1 DIANPH DNMBP DURS1 DWS DYT13 DYT15 DYT17 DYT2 DYT21 DYT7 DYX1 DYX3 DYX5 DYX6 DYX8 DYX9 E11S EBM EBR3 ECA1 EEC1 EEGV1 EGI EJM2 EJM4 EKD2 EMWX ENUR1 ENUR2 ETL4 ETM2 EVR3 EXOC6B EXT3 FCMTE1 FCMTE2 FCP1 FCSK FEB1 FEB2 FEB5 FEB6 FEB7 FGS2 FGS3 FGS5 FRDA2 FSHMD1A FSHMD1B FUSE FUT8 GBD2 GBD3 GC06P027612 GCY GDAP2 GFM2 GINGF2 GINGF3 GINGF4 GLC1B GLC1C GLC1D GLC1H GLC1I GLC1J GLC1K GLC1M GLC1N GLC1P GLC3B GLC3C GLYS1 GPDS1 GSM1 GTS HCL2 HCVS HDLCQ1 HPCX HPE1 HPFH2 HPLH1 HPP1 HPT HTC1 HTC2 HYD2 IBD2 IBD3 IBD4 IBD5 IBD6 IBD7 IBD8 IBD9 IBGC1 IDDM11 IDDM13 IDDM15 IDDM17 IDDM18 IDDM3 IDDM4 IDDM6 IDDM7 IDDM8 IGAD1 IGES IHG1 IQSEC2 IV JBS KCNK4 KWE LCS1 LFS3 LGMD1G LGMD1H MAA MACF1 MACOM MAFD1 MAFD2 MAFD4 MAP11 MBS1 MBS2 MBS3 MBTPS1 MBTPS2 MCDR1 MCDR3 MCS MDRV MEHMO MGS MHAC MHS2 MHS4 MHS6 MICOS13 MMVP1 MMVP2 MMVP3 MROS MRPS14 MRSD MRSS MRT10 MRT11 MRT17 MRT19 MRT23 MRT24 MRT25 MRT27 MRT28 MRT32 MRT4 MRT8 MRT9 MRX14 MRX20 MRX23 MRX42 MRX49 MRX50 MRX53 MRX73 MRX77 MRX81 MRX82 MRX84 MRXS11 MRXS7 MS MSD MSPC MTHFS MT-ND3 MT-TD MT-TH MT-TL2 MT-TM MT-TN MT-TR MT-TY MYL1 MYMY1 MYMY3 MYP1 MYP10 MYP11 MYP12 MYP13 MYP14 MYP15 MYP16 MYP17 MYP18 MYP2 MYP3 MYP5 MYP7 MYP8 MYP9 NAXD NEUROD2 NFASC NIDDM1 NIDDM2 NKS1 NM NNO1 NNO3 NUP88 NYS2 NYS3 NYS4 OASD OCA5 OFC1 OFC2 OFC3 OPA2 OPA4 OPA5 OPA6 OPA8 OPEM OTSC1 OTSC10 OTSC2 OTSC3 OTSC4 OTSC5 OTSC7 OTSC8 OVOL2 PARK10 PARK12 PARK16 PARK3 PBCRA1 PCAP PCGF2 PCOS1 PDB1 PDB4 PDR PEE1 PFM3 PKD3 PPIP5K2 PPP2CA PPP2R3C PPR1 PRD PRS PSNP3 PSORS10 PSORS3 PSORS4 PSORS5 PSORS6 PSORS7 PSORS8 PSORS9 PTLAH PTLS PTOS1 PUS7 QRICH2 RCD1 RDPA RELT RHDNS1 RIEG2 RMD1 RNF13 RORB RP22 RP24 RP29 RP32 RP34 RP6 RP63 RSRC1 RSS SAX1 SCA18 SCA20 SCA25 SCA26 SCA30 SCA37 SCA9 SCAR3 SCASI SCAX2 SCAX3 SCAX4 SCZD1 SCZD10 SCZD2 SCZD3 SCZD6 SCZD7 SCZD8 SHFM2 SHFM3 SHFM5 SLC10A7 SLC13A3 SLC9A7 SLEB3 SLEH1 SLEN1 SLEN2 SLEN3 SMARCC2 SPG14 SPG16 SPG19 SPG23 SPG24 SPG25 SPG27 SPG29 SPG32 SPG34 SPG36 SPG37 SPG38 SPG41 SPG45 SPG5B ST3 ST8 STAG2 STQTL6 STQTL7 STQTL8 STUT1 STUT2 TAPVR1 TBL1Y TEC TELAB1 TGCT1 THAS THM TKCR TRAPPC2L TRICY1 TYS USH1E USH1H USH1K VDI VMD1 VUR WDR4 WS2B WT2 XM ZBTB11 ZP2

Anatomical Context for Cone-Rod Dystrophy and Hearing Loss 2

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

42
Eye

Publications for Cone-Rod Dystrophy and Hearing Loss 2

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

# Title Authors Year
1
CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family. ( 29718797 )
2018
2
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative. ( 30459346 )
2018
3
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. ( 24780881 )
2014

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_007186.6(CEP250): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 35466073: 35466073
4 CEP250 NM_007186.6(CEP250): c.361C> T (p.Arg121Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 34053898: 34053898
5 CEP250 NM_007186.6(CEP250): c.562C> T (p.Arg188Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 35467035: 35467035
6 CEP250 NM_007186.6(CEP250): c.562C> T (p.Arg188Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 34054860: 34054860
7 CEP250 NM_007186.6(CEP250): c.3337A> T (p.Lys1113Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 20, 35497749: 35497749
8 CEP250 NM_007186.6(CEP250): c.3337A> T (p.Lys1113Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 34085578: 34085578
9 CEP250 NM_007186.6(CEP250): c.4006C> T (p.Arg1336Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 20, 34089779: 34089779
10 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
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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