CRDHL
MCID: CNR037
MIFTS: 25

Cone-Rod Dystrophy and Hearing Loss (CRDHL)

Categories: Ear diseases, Eye diseases, Genetic diseases

Aliases & Classifications for Cone-Rod Dystrophy and Hearing Loss

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

Name: Cone-Rod Dystrophy and Hearing Loss 57 75 37 29 6
Deaf-Blind Disorders 44 73
Crdhl 57 75
Dystrophy, Cone-Rod, Hearing Loss 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Cone-Rod Dystrophy and Hearing Loss

UniProtKB/Swiss-Prot : 75 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, also known as deaf-blind disorders, is related to cone-rod dystrophy 2 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including amaurosis fugax An important gene associated with Cone-Rod Dystrophy and Hearing Loss is CEP78 (Centrosomal Protein 78). Affiliated tissues include eye, and related phenotypes are nystagmus and sensorineural hearing impairment

Description from OMIM: 617236

Related Diseases for Cone-Rod Dystrophy and Hearing Loss

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

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 2 10.2
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 retinitis pigmentosa 9.7 CEP78 FAM161A

Symptoms & Phenotypes for Cone-Rod Dystrophy and Hearing Loss

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 sensorineural hearing impairment 32 HP:0000407
3 photophobia 32 HP:0000613
4 macular degeneration 32 HP:0000608
5 retinal atrophy 32 HP:0001105

UMLS symptoms related to Cone-Rod Dystrophy and Hearing Loss:


amaurosis fugax

Drugs & Therapeutics for Cone-Rod Dystrophy and Hearing Loss

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

Cochrane evidence based reviews: deaf-blind disorders

Genetic Tests for Cone-Rod Dystrophy and Hearing Loss

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

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy and Hearing Loss 29 CEP78

Anatomical Context for Cone-Rod Dystrophy and Hearing Loss

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

41
Eye

Publications for Cone-Rod Dystrophy and Hearing Loss

Articles related to Cone-Rod Dystrophy and Hearing Loss:

# 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

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP78 NM_001098802.2(CEP78): c.499+1G> T single nucleotide variant Pathogenic rs1057517691 GRCh37 Chromosome 9, 80855281: 80855281
2 CEP78 NM_001098802.2(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_001098802.2(CEP78): c.499+5G> A single nucleotide variant Pathogenic rs1057517693 GRCh38 Chromosome 9, 78240369: 78240369
6 CEP78 NM_001098802.2(CEP78): c.499+5G> A single nucleotide variant Pathogenic rs1057517693 GRCh37 Chromosome 9, 80855285: 80855285
7 CEP78 NM_032171.2(CEP78): c.893-1G> A single nucleotide variant Pathogenic rs1057517694 GRCh37 Chromosome 9, 80863206: 80863206
8 CEP78 NM_032171.2(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_032171.2(CEP78): c.1254+5G> A single nucleotide variant Pathogenic rs745750156 GRCh37 Chromosome 9, 80868198: 80868198
12 CEP78 NM_032171.2(CEP78): c.1254+5G> A single nucleotide variant Pathogenic rs745750156 GRCh38 Chromosome 9, 78253282: 78253282
13 CEP78 NM_032171.2(CEP78): c.1629-2A> G single nucleotide variant Pathogenic rs1057518753 GRCh37 Chromosome 9, 80880286: 80880286
14 CEP78 NM_032171.2(CEP78): c.1629-2A> G single nucleotide variant Pathogenic rs1057518753 GRCh38 Chromosome 9, 78265370: 78265370

Expression for Cone-Rod Dystrophy and Hearing Loss

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

Pathways for Cone-Rod Dystrophy and Hearing Loss

GO Terms for Cone-Rod Dystrophy and Hearing Loss

Cellular components related to Cone-Rod Dystrophy and Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.32 CEP78 FAM161A
2 cell projection GO:0042995 9.26 CEP78 FAM161A
3 centrosome GO:0005813 9.16 CEP78 FAM161A
4 cilium GO:0005929 8.96 CEP78 FAM161A
5 ciliary basal body GO:0036064 8.62 CEP78 FAM161A

Biological processes related to Cone-Rod Dystrophy and Hearing Loss according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 8.96 CEP78 FAM161A
2 cilium organization GO:0044782 8.62 CEP78 FAM161A

Sources for Cone-Rod Dystrophy and Hearing Loss

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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