CRDHL1
MCID: CNR040
MIFTS: 25

Cone-Rod Dystrophy and Hearing Loss 1 (CRDHL1)

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 56 73 29 6
Cone-Rod Dystrophy and Hearing Loss 56 36 29 17
Crdhl1 56 73
Dystrophy, Cone-Rod, Hearing Loss 39
Deaf-Blind Disorders 43
Crdhl 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
cone-rod dystrophy and hearing loss 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 617236
OMIM Phenotypic Series 56 PS617236
KEGG 36 H02135
MeSH 43 D054062

Summaries for Cone-Rod Dystrophy and Hearing Loss 1

UniProtKB/Swiss-Prot : 73 Cone-rod dystrophy and hearing loss 1: 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 sensorineural hearing impairment and photophobia

OMIM : 56 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)

KEGG : 36 Cone-rod dystrophy and hearing loss is an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss. It has been reported that bi-allelic truncating mutations in CEP78 cause this disease.

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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.3
2 cone-rod dystrophy 2 10.2
3 retinitis pigmentosa 10.2
4 retinitis pigmentosa-deafness syndrome 10.2
5 yemenite deaf-blind hypopigmentation syndrome 10.2
6 branchiootic syndrome 1 10.2
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
8 usher syndrome 10.2
9 neuroretinitis 10.2
10 retinitis 10.2
11 retinal degeneration 10.2

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy and Hearing Loss 1:



Diseases related to Cone-Rod Dystrophy and Hearing Loss 1

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

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

31
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 photophobia 31 HP:0000613
3 nystagmus 31 HP:0000639
4 macular degeneration 31 HP:0000608
5 retinal atrophy 31 HP:0001105

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
photophobia
nystagmus
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 29
2 Cone-Rod Dystrophy and Hearing Loss 1 29 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 PMID Year
1
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. 56 6 61
27588451 2016
2
CEP78 is mutated in a distinct type of Usher syndrome. 56 6
27627988 2017
3
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. 56 6
27588452 2016

Variations for Cone-Rod Dystrophy and Hearing Loss 1

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CEP78 46,XX,der(9)(q21.2,q21.2).seq[GRCh37/hg19]der(9)(9pter->9q21.2(+)(8084369{7-8})::q21.2(-)(808497{60-59}),q21.2(-)(8084946{5-3})::q21.2(+)(808596{79-81}->9qter)complex Pathogenic 561260 9:80843698-80859679
2 CEP78 NM_001330691.3(CEP78):c.499+1G>TSNV Pathogenic 372266 rs1057517691 9:80855281-80855281 9:78240365-78240365
3 CEP78 NM_001330691.3(CEP78):c.633del (p.Trp212fs)deletion Pathogenic 372267 rs1057517692 9:80858406-80858406 9:78243490-78243490
4 CEP78 NM_001330691.3(CEP78):c.499+5G>ASNV Pathogenic 372268 rs1057517693 9:80855285-80855285 9:78240369-78240369
5 CEP78 NM_001330691.3(CEP78):c.893-1G>ASNV Pathogenic 372269 rs1057517694 9:80863206-80863206 9:78248290-78248290
6 CEP78 NM_001330691.3(CEP78):c.534del (p.Lys179fs)deletion Pathogenic 372270 rs1057517695 9:80856645-80856645 9:78241729-78241729
7 CEP78 NM_001330691.3(CEP78):c.1251+5G>ASNV Pathogenic 372271 rs745750156 9:80868198-80868198 9:78253282-78253282
8 CEP78 NM_001330691.3(CEP78):c.1626-2A>GSNV Pathogenic 372272 rs1057518753 9:80880286-80880286 9:78265370-78265370

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
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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