CRDHL1
MCID: CNR040
MIFTS: 26

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 57 72 29 6
Cone-Rod Dystrophy and Hearing Loss 57 36 29 17
Deaf-Blind Disorders 44 70
Crdhl1 57 72
Dystrophy, Cone-Rod, Hearing Loss 39
Crdhl 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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
Onset and clinical course childhood onset young adult onset


Classifications:



External Ids:

OMIM® 57 617236
OMIM Phenotypic Series 57 PS617236
KEGG 36 H02135
MeSH 44 D054062
UMLS 70 C1955603

Summaries for Cone-Rod Dystrophy and Hearing Loss 1

UniProtKB/Swiss-Prot : 72 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, and has symptoms including amaurosis fugax 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® : 57 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) (Updated 05-Apr-2021)

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 10.9
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 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 sensorineural hearing impairment 31 very rare (1%) HP:0000407
3 visual impairment 31 very rare (1%) HP:0000505
4 photophobia 31 very rare (1%) HP:0000613
5 macular degeneration 31 very rare (1%) HP:0000608
6 dyschromatopsia 31 very rare (1%) HP:0007641
7 hemeralopia 31 very rare (1%) HP:0012047
8 retinal atrophy 31 very rare (1%) HP:0001105

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

UMLS symptoms related to Cone-Rod Dystrophy and Hearing Loss 1:


amaurosis fugax

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. 61 6 57
27588451 2016
2
CEP78 is mutated in a distinct type of Usher syndrome. 6 57
27627988 2017
3
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss. 57 6
27588452 2016
4
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing. 6
30526634 2018

Variations for Cone-Rod Dystrophy and Hearing Loss 1

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP78 NM_001330691.3(CEP78):c.499+5G>A SNV Pathogenic 372268 rs1057517693 GRCh37: 9:80855285-80855285
GRCh38: 9:78240369-78240369
2 CEP78 NM_001330691.3(CEP78):c.1251+5G>A SNV Pathogenic 372271 rs745750156 GRCh37: 9:80868198-80868198
GRCh38: 9:78253282-78253282
3 CEP78 NM_001330691.3(CEP78):c.499+1G>T SNV Pathogenic 372266 rs1057517691 GRCh37: 9:80855281-80855281
GRCh38: 9:78240365-78240365
4 CEP78 NM_001330691.3(CEP78):c.893-1G>A SNV Pathogenic 372269 rs1057517694 GRCh37: 9:80863206-80863206
GRCh38: 9:78248290-78248290
5 CEP78 NM_001330691.3(CEP78):c.1626-2A>G SNV Pathogenic 372272 rs1057518753 GRCh37: 9:80880286-80880286
GRCh38: 9:78265370-78265370
6 CEP78 NM_001330691.3(CEP78):c.534del (p.Lys179fs) Deletion Pathogenic 372270 rs1057517695 GRCh37: 9:80856645-80856645
GRCh38: 9:78241729-78241729
7 CEP78 NM_001330691.3(CEP78):c.633del (p.Trp212fs) Deletion Pathogenic 372267 rs1057517692 GRCh37: 9:80858406-80858406
GRCh38: 9:78243490-78243490
8 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 GRCh37: 9:80843698-80859679
GRCh38:
9 CEP78 NM_001330691.3(CEP78):c.1846-1G>C SNV Pathogenic 667214 rs146563928 GRCh37: 9:80881357-80881357
GRCh38: 9:78266441-78266441
10 CEP78 NM_001330691.3(CEP78):c.901A>G (p.Met301Val) SNV Uncertain significance 851086 GRCh37: 9:80863215-80863215
GRCh38: 9:78248299-78248299
11 CEP78 NM_001330691.3(CEP78):c.1601T>G (p.Phe534Cys) SNV Uncertain significance 930950 GRCh37: 9:80879208-80879208
GRCh38: 9:78264292-78264292

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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