CRDHL
MCID: CNR040
MIFTS: 21

Cone-Rod Dystrophy and Hearing Loss 1 (CRDHL)

Categories: Ear diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Cone-Rod Dystrophy and Hearing Loss 1

MalaCards integrated aliases for Cone-Rod Dystrophy and Hearing Loss 1:

Name: Cone-Rod Dystrophy and Hearing Loss 1 58
Cone-Rod Dystrophy and Hearing Loss 58 76 38 30 6 17
Crdhl 58 76
Dystrophy, Cone-Rod, Hearing Loss 41
Deaf-Blind Disorders 45
Crdhl1 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable age of onset for visual or hearing symptoms, ranging from first to fourth or fifth decades of life


HPO:

33
cone-rod dystrophy and hearing loss 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cone-Rod Dystrophy and Hearing Loss 1

UniProtKB/Swiss-Prot : 76 Cone-rod dystrophy and hearing loss: 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 1, also known as cone-rod dystrophy and hearing loss, is related to cone-rod dystrophy and hearing loss 2 and cone-rod dystrophy 2. An important gene associated with Cone-Rod Dystrophy and Hearing Loss 1 is CEP78 (Centrosomal Protein 78). Related phenotypes are nystagmus and sensorineural hearing impairment

OMIM : 58 CRDHL1 is characterized by cone-rod dystrophy and sensorineural hearing loss, with relatively late onset of both ocular and hearing impairment. The funduscopic findings are characteristic, showing ring-shaped atrophy along the major vascular arcades that manifests on fundus autofluorescence as a hypoautofluorescent band along the vascular arcades surrounded by hyperautofluorescent borders (Namburi et al., 2016). (617236)

Related Diseases for Cone-Rod Dystrophy and Hearing Loss 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1
2 cone-rod dystrophy 2 10.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2

Symptoms & Phenotypes for Cone-Rod Dystrophy and Hearing Loss 1

Human phenotypes related to Cone-Rod Dystrophy and Hearing Loss 1:

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 sensorineural hearing impairment 33 HP:0000407
3 photophobia 33 HP:0000613
4 macular degeneration 33 HP:0000608
5 retinal atrophy 33 HP:0001105

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
photophobia
macular degeneration
attenuated retinal vessels
reduced vision in bright light
more
Head And Neck Ears:
hearing loss, sensorineural

Clinical features from OMIM:

617236

Drugs & Therapeutics for Cone-Rod Dystrophy and Hearing Loss 1

Search Clinical Trials , NIH Clinical Center for Cone-Rod Dystrophy and Hearing Loss 1

Cochrane evidence based reviews: deaf-blind disorders

Genetic Tests for Cone-Rod Dystrophy and Hearing Loss 1

Genetic tests related to Cone-Rod Dystrophy and Hearing Loss 1:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy and Hearing Loss 30 CEP78

Anatomical Context for Cone-Rod Dystrophy and Hearing Loss 1

Publications for Cone-Rod Dystrophy and Hearing Loss 1

Articles related to Cone-Rod Dystrophy and Hearing Loss 1:

# Title Authors Year
1
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. ( 27588451 )
2016

Variations for Cone-Rod Dystrophy and Hearing Loss 1

ClinVar genetic disease variations for Cone-Rod Dystrophy and Hearing Loss 1:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP78 NM_001330691.2(CEP78): c.499+1G> T single nucleotide variant Pathogenic rs1057517691 GRCh37 Chromosome 9, 80855281: 80855281
2 CEP78 NM_001330691.2(CEP78): c.499+1G> T single nucleotide variant Pathogenic rs1057517691 GRCh38 Chromosome 9, 78240365: 78240365
3 CEP78 NM_001098802.2(CEP78): c.633delC (p.Trp212Glyfs) deletion Pathogenic rs1057517692 GRCh37 Chromosome 9, 80858407: 80858407
4 CEP78 NM_001098802.2(CEP78): c.633delC (p.Trp212Glyfs) deletion Pathogenic rs1057517692 GRCh38 Chromosome 9, 78243491: 78243491
5 CEP78 NM_001330691.2(CEP78): c.499+5G> A single nucleotide variant Pathogenic rs1057517693 GRCh38 Chromosome 9, 78240369: 78240369
6 CEP78 NM_001330691.2(CEP78): c.499+5G> A single nucleotide variant Pathogenic rs1057517693 GRCh37 Chromosome 9, 80855285: 80855285
7 CEP78 NM_001330691.2(CEP78): c.893-1G> A single nucleotide variant Pathogenic rs1057517694 GRCh37 Chromosome 9, 80863206: 80863206
8 CEP78 NM_001330691.2(CEP78): c.893-1G> A single nucleotide variant Pathogenic rs1057517694 GRCh38 Chromosome 9, 78248290: 78248290
9 CEP78 NM_032171.2(CEP78): c.534delT (p.Lys179Argfs) deletion Pathogenic rs1057517695 GRCh37 Chromosome 9, 80856646: 80856646
10 CEP78 NM_032171.2(CEP78): c.534delT (p.Lys179Argfs) deletion Pathogenic rs1057517695 GRCh38 Chromosome 9, 78241730: 78241730
11 CEP78 NM_001330691.2(CEP78): c.1251+5G> A single nucleotide variant Pathogenic rs745750156 GRCh37 Chromosome 9, 80868198: 80868198
12 CEP78 NM_001330691.2(CEP78): c.1251+5G> A single nucleotide variant Pathogenic rs745750156 GRCh38 Chromosome 9, 78253282: 78253282
13 CEP78 NM_001330691.2(CEP78): c.1626-2A> G single nucleotide variant Pathogenic rs1057518753 GRCh37 Chromosome 9, 80880286: 80880286
14 CEP78 NM_001330691.2(CEP78): c.1626-2A> G single nucleotide variant Pathogenic rs1057518753 GRCh38 Chromosome 9, 78265370: 78265370
15 CEP78 9q21.2(+)(8084369{7-8}) complex Pathogenic GRCh37 Chromosome 9, 80843698: 80859679

Expression for Cone-Rod Dystrophy and Hearing Loss 1

Search GEO for disease gene expression data for Cone-Rod Dystrophy and Hearing Loss 1.

Pathways for Cone-Rod Dystrophy and Hearing Loss 1

GO Terms for Cone-Rod Dystrophy and Hearing Loss 1

Sources for Cone-Rod Dystrophy and Hearing Loss 1

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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