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 58 54 76 30 6 74
Harboyan Syndrome 58 54 60 76
Cdpd 58 54 60 76
Corneal Endothelial Dystrophy and Perceptive Deafness 58 76 13
Corneal Dystrophy and Sensorineural Deafness 58 54 76
Cdpd1 58 76
Congenital Corneal Dystrophy, Progressive Sensorineural Deafness 54
Corneal Dystrophy-Perceptive Deafness Syndrome 60
Corneal Dystrophy with Progressive Deafness 60
Dystrophy, Corneal, and Perceptive Deafness 41

Characteristics:

Orphanet epidemiological data:

60
corneal dystrophy-perceptive deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
corneal dystrophy and perceptive deafness:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 217400
MeSH 45 D003317
MESH via Orphanet 46 C535473
ICD10 via Orphanet 35 H18.5
UMLS via Orphanet 75 C1857572
Orphanet 60 ORPHA1490
MedGen 43 C1857572
UMLS 74 C1857572

Summaries for Corneal Dystrophy and Perceptive Deafness

NIH Rare Diseases : 54 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 corneal opacity and sensorineural hearing impairment

UniProtKB/Swiss-Prot : 76 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 10.4
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

Human phenotypes related to Corneal Dystrophy and Perceptive Deafness:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 60 33 hallmark (90%) Very frequent (99-80%) HP:0007957
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
4 corneal dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001131
5 nystagmus 60 33 frequent (33%) Frequent (79-30%) HP:0000639
6 opacification of the corneal stroma 33 HP:0007759

Symptoms via clinical synopsis from OMIM:

58
Eyes:
corneal dystrophy
corneal opacities

Ears:
perceptive hearing loss

Clinical features from OMIM:

217400

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 30 SLC4A11

Anatomical Context for Corneal Dystrophy and Perceptive Deafness

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

42
Endothelial, Eye

Publications for Corneal Dystrophy and Perceptive Deafness

Articles related to Corneal Dystrophy and Perceptive Deafness:

# Title Authors Year
1
Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families. ( 30856043 )
2019
2
Rehabilitation with cochlear implant in patient with harboyan syndrome. ( 25992045 )
2013
3
Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome). ( 18922146 )
2008
4
Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. ( 11836359 )
2002
5
Comment on 'A further observation of corneal dystrophy and perceptive deafness in two siblings'. ( 9695093 )
1998
6
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:

76
# 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_032034.3(SLC4A11): c.473_480delGCTTCGCC (p.Arg158Glnfs) deletion Pathogenic rs869320721 GRCh37 Chromosome 20, 3214820: 3214827
2 SLC4A11 NM_032034.3(SLC4A11): c.473_480delGCTTCGCC (p.Arg158Glnfs) 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 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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