CDPD
MCID: CRN045
MIFTS: 27

Corneal Dystrophy and Perceptive Deafness (CDPD)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Dystrophy and Perceptive Deafness

MalaCards integrated aliases for Corneal Dystrophy and Perceptive Deafness:

Name: Corneal Dystrophy and Perceptive Deafness 57 53 75 29 6 73
Harboyan Syndrome 57 53 59 75
Cdpd 57 53 59 75
Corneal Endothelial Dystrophy and Perceptive Deafness 57 75 13
Corneal Dystrophy and Sensorineural Deafness 57 53 75
Cdpd1 57 75
Congenital Corneal Dystrophy, Progressive Sensorineural Deafness 53
Corneal Dystrophy-Perceptive Deafness Syndrome 59
Corneal Dystrophy with Progressive Deafness 59
Dystrophy, Corneal, and Perceptive Deafness 40

Characteristics:

Orphanet epidemiological data:

59
corneal dystrophy-perceptive deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
corneal dystrophy and perceptive deafness:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 217400
Orphanet 59 ORPHA1490
MESH via Orphanet 45 C535473
UMLS via Orphanet 74 C1857572
ICD10 via Orphanet 34 H18.5
MedGen 42 C1857572
MeSH 44 D003317
UMLS 73 C1857572

Summaries for Corneal Dystrophy and Perceptive Deafness

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1490Disease definitionCorneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy (CHED; see this term) with progressive, postlingual sensorineural hearing loss.EpidemiologyTo date, 24 cases from 11 families of various origins (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan and Dominican) have been reported.Clinical descriptionThe ocular manifestations in CDPD include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from the ocular findings characterizing autosomal recessive CHED (CHED2). Hearing deficit in CDPD is slowly progressive and is typically identified in patients between 10 and 25 years of age. There are no reported cases with prelingual deafness, however, significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected early in the disease course, even at birth.EtiologyCDPD is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and CDPD are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 with CHED2 and six with CDPD).Diagnostic methodsDiagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. Molecular confirmation of the clinical diagnosis is feasible.Differential diagnosisA variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids and congenital glaucoma; see these terms). Audiometry must be performed to differentiate CDPD from CHED2. Autosomal recessive types of CHED (CHED2) and CDPD should be carefully distinguished from the less severe autosomal dominant type, CHED1.Genetic counselingMore than 50% of the reported CDPD cases have been associated with parental consanguinity and all reported cases have been consistent with autosomal recessive transmission.Management and treatmentThe ocular abnormalities in patients with CDPD may be treated with topical hyperosmolar solutions. However, corneal transplantation (penetrating keratoplasty) represents the definitive treatment. Corneal transplantation results in substantial visual gains and has a relatively good surgical prognosis. Audiometric monitoring should be offered to all patients. Hearing aids may be necessary in adolescence.Visit the Orphanet disease page for more resources.

MalaCards based summary : Corneal Dystrophy and Perceptive Deafness, also known as harboyan syndrome, is related to corneal dystrophy and corneal endothelial dystrophy. An important gene associated with Corneal Dystrophy and Perceptive Deafness is SLC4A11 (Solute Carrier Family 4 Member 11). Affiliated tissues include endothelial and eye, and related phenotypes are nystagmus and corneal opacity

UniProtKB/Swiss-Prot : 75 Corneal dystrophy and perceptive deafness: An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss.

Description from OMIM: 217400

Related Diseases for Corneal Dystrophy and Perceptive Deafness

Diseases related to Corneal Dystrophy and Perceptive Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 corneal dystrophy 10.3
2 corneal endothelial dystrophy 10.0
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
4 sensorineural hearing loss 10.0

Symptoms & Phenotypes for Corneal Dystrophy and Perceptive Deafness

Symptoms via clinical synopsis from OMIM:

57
Eyes:
corneal dystrophy
corneal opacities

Ears:
perceptive hearing loss


Clinical features from OMIM:

217400

Human phenotypes related to Corneal Dystrophy and Perceptive Deafness:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 frequent (33%) Frequent (79-30%) HP:0000639
2 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
3 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
5 corneal dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001131
6 opacification of the corneal stroma 32 HP:0007759

Drugs & Therapeutics for Corneal Dystrophy and Perceptive Deafness

Search Clinical Trials , NIH Clinical Center for Corneal Dystrophy and Perceptive Deafness

Genetic Tests for Corneal Dystrophy and Perceptive Deafness

Genetic tests related to Corneal Dystrophy and Perceptive Deafness:

# Genetic test Affiliating Genes
1 Corneal Dystrophy and Perceptive Deafness 29 SLC4A11

Anatomical Context for Corneal Dystrophy and Perceptive Deafness

MalaCards organs/tissues related to Corneal Dystrophy and Perceptive Deafness:

41
Endothelial, Eye

Publications for Corneal Dystrophy and Perceptive Deafness

Articles related to Corneal Dystrophy and Perceptive Deafness:

# Title Authors Year
1
Rehabilitation with cochlear implant in patient with harboyan syndrome. ( 25992045 )
2013
2
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). ( 18922146 )
2008
3
Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. ( 11836359 )
2002
4
Comment on 'A further observation of corneal dystrophy and perceptive deafness in two siblings'. ( 9695093 )
1998
5
A further observation of corneal dystrophy and perceptive deafness in two siblings. ( 9228245 )
1997

Variations for Corneal Dystrophy and Perceptive Deafness

UniProtKB/Swiss-Prot genetic disease variations for Corneal Dystrophy and Perceptive Deafness:

75
# Symbol AA change Variation ID SNP ID
1 SLC4A11 p.Ser213Pro VAR_034946 rs121909395
2 SLC4A11 p.Arg488Lys VAR_034947 rs121909393
3 SLC4A11 p.Leu843Pro VAR_034951 rs121909394
4 SLC4A11 p.Met856Val VAR_034953 rs121909396

ClinVar genetic disease variations for Corneal Dystrophy and Perceptive Deafness:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC4A11 NM_001174089.1(SLC4A11): c.425_432delGCTTCGCC (p.Arg142Glnfs) deletion Pathogenic rs869320721 GRCh37 Chromosome 20, 3214820: 3214827
2 SLC4A11 NM_001174089.1(SLC4A11): c.425_432delGCTTCGCC (p.Arg142Glnfs) deletion Pathogenic rs869320721 GRCh38 Chromosome 20, 3234174: 3234181
3 SLC4A11 NM_001174089.1(SLC4A11): c.1330_1333delTACGinsA (p.Tyr444_Ala445delinsThr) indel Pathogenic rs869320722 GRCh38 Chromosome 20, 3230597: 3230600
4 SLC4A11 NM_001174089.1(SLC4A11): c.1330_1333delTACGinsA (p.Tyr444_Ala445delinsThr) indel Pathogenic rs869320722 GRCh37 Chromosome 20, 3211243: 3211246
5 SLC4A11 NM_001174089.1(SLC4A11): c.1415G> A (p.Arg472Lys) single nucleotide variant Pathogenic rs121909393 GRCh37 Chromosome 20, 3211161: 3211161
6 SLC4A11 NM_001174089.1(SLC4A11): c.1415G> A (p.Arg472Lys) single nucleotide variant Pathogenic rs121909393 GRCh38 Chromosome 20, 3230515: 3230515
7 SLC4A11 NM_001174089.1(SLC4A11): c.2518A> G (p.Met840Val) single nucleotide variant Pathogenic rs121909396 GRCh37 Chromosome 20, 3208945: 3208945
8 SLC4A11 NM_001174089.1(SLC4A11): c.2518A> G (p.Met840Val) single nucleotide variant Pathogenic rs121909396 GRCh38 Chromosome 20, 3228299: 3228299
9 SLC4A11 NM_001174089.1(SLC4A11): c.2480T> C (p.Leu827Pro) single nucleotide variant Likely pathogenic rs121909394 GRCh37 Chromosome 20, 3208983: 3208983
10 SLC4A11 NM_001174089.1(SLC4A11): c.2480T> C (p.Leu827Pro) single nucleotide variant Likely pathogenic rs121909394 GRCh38 Chromosome 20, 3228337: 3228337
11 SLC4A11 SLC4A11, 8-BP DUP, NT2233 duplication Pathogenic
12 SLC4A11 SLC4A11, 32-BP DEL, NT2423 deletion Pathogenic
13 SLC4A11 NM_001174089.1(SLC4A11): c.589T> C (p.Ser197Pro) single nucleotide variant Pathogenic rs121909395 GRCh37 Chromosome 20, 3214583: 3214583
14 SLC4A11 NM_001174089.1(SLC4A11): c.589T> C (p.Ser197Pro) single nucleotide variant Pathogenic rs121909395 GRCh38 Chromosome 20, 3233937: 3233937
15 SLC4A11 NM_032034.3(SLC4A11): c.2110G> A (p.Ala704Thr) single nucleotide variant Likely pathogenic rs748362724 GRCh38 Chromosome 20, 3228968: 3228968
16 SLC4A11 NM_032034.3(SLC4A11): c.2110G> A (p.Ala704Thr) single nucleotide variant Likely pathogenic rs748362724 GRCh37 Chromosome 20, 3209614: 3209614

Expression for Corneal Dystrophy and Perceptive Deafness

Search GEO for disease gene expression data for Corneal Dystrophy and Perceptive Deafness.

Pathways for Corneal Dystrophy and Perceptive Deafness

GO Terms for Corneal Dystrophy and Perceptive Deafness

Sources for Corneal Dystrophy and Perceptive Deafness

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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