CDPD
MCID: CRN045
MIFTS: 44

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 56 12 52 73 43 71
Corneal Dystrophy-Perceptive Deafness Syndrome 12 58 29 6 15
Harboyan Syndrome 56 12 52 58 73
Cdpd 56 12 52 58 73
Corneal Endothelial Dystrophy and Perceptive Deafness 56 12 73 13
Corneal Dystrophy and Sensorineural Deafness 56 52 73
Cdpd1 56 12 73
Corneal Dystrophy with Progressive Deafness 12 58
Congenital Corneal Dystrophy, Progressive Sensorineural Deafness 52
Corneal Dystrophy-Perceptive Hearing Loss Syndrome 58
Corneal Dystrophy with Progressive Hearing Loss 58
Dystrophy, Corneal, and Perceptive Deafness 39

Characteristics:

Orphanet epidemiological data:

58
corneal dystrophy-perceptive deafness syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
corneal dystrophy and perceptive deafness:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111620
OMIM 56 217400
SNOMED-CT 67 720749004
MESH via Orphanet 44 C535473
ICD10 via Orphanet 33 H18.5
UMLS via Orphanet 72 C1857572
Orphanet 58 ORPHA1490
MedGen 41 C1857572
UMLS 71 C1857572

Summaries for Corneal Dystrophy and Perceptive Deafness

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1490 Definition Corneal 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 . Epidemiology To 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 description The 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. Etiology CDPD 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 methods Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. Molecular confirmation of the clinical diagnosis is feasible. Differential diagnosis A 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 counseling More 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 treatment The 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 corneal dystrophy-perceptive deafness 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), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and O2/CO2 exchange in erythrocytes. Affiliated tissues include endothelial, eye and brain, and related phenotypes are corneal opacity and sensorineural hearing impairment

Disease Ontology : 12 A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has material basis in homozygous or compound heterozygous mutation in SLC4A11 on chromosome 20p13.

OMIM : 56 Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive sensorineural deafness, and is transmitted as an autosomal recessive trait (summary by Desir et al., 2007). (217400)

UniProtKB/Swiss-Prot : 73 Corneal dystrophy and perceptive deafness: An ocular disease characterized by the association of corneal clouding with progressive perceptive hearing loss.

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:

(show all 39)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy 30.5 VSX1 SLC4A11 LOXHD1 COL8A2
2 corneal endothelial dystrophy 29.7 VSX1 SLC4A4 SLC4A11 LOXHD1 COL8A2
3 corneal edema 29.4 VSX1 SLC4A11 LOXHD1 COL8A2 AQP1
4 fuchs' endothelial dystrophy 29.1 VSX1 SLC4A11 SLC4A1 LOXHD1 COL8A2 AQP1
5 branchiootic syndrome 1 10.4
6 macular dystrophy, corneal 10.3 SLC4A11 COL8A2
7 epithelial and subepithelial dystrophy 10.3 SLC4A11 COL8A2
8 granular corneal dystrophy 10.3 SLC4A11 COL8A2
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
10 corneal ectasia 10.2 VSX1 COL8A2
11 stromal dystrophy 10.2 SLC4A11 COL8A2
12 secondary corneal edema 10.2 SLC4A11 LOXHD1 COL8A2
13 complex partial epilepsy 10.1 SLC4A7 SLC4A10
14 corneal dystrophy, fuchs endothelial, 1 10.1 COL8A2 AQP1
15 corneal dystrophy, endothelial, x-linked 10.1 VSX1 SLC4A11 COL8A2
16 peters-plus syndrome 10.1
17 sclerocornea 10.1
18 pathologic nystagmus 10.1
19 corneal dystrophy, posterior polymorphous, 2 10.1 VSX1 SLC4A11 COL8A2
20 intestinal impaction 10.1 SLC4A7 SLC4A4
21 corneal dystrophy, posterior polymorphous, 3 10.1 VSX1 SLC4A11 COL8A2
22 sensorineural hearing loss 10.1
23 irregular astigmatism 10.1 VSX1 SLC4A11 COL8A2
24 brittle cornea syndrome 2 10.1 VSX1 SLC4A11 COL8A2
25 osteopetrosis, autosomal recessive 3 10.1 SLC4A4 SLC4A1
26 osteopetrosis, autosomal recessive 4 10.0 SLC4A4 SLC4A1
27 osteopetrosis, autosomal recessive 7 10.0 SLC4A4 SLC4A1
28 osteopetrosis, autosomal recessive 6 10.0 SLC4A4 SLC4A1
29 corneal dystrophy, fleck 9.9 TGDS SLC4A11 LOXHD1 COL8A2
30 priapism 9.9 SLC4A1 AQP1
31 branchiootorenal syndrome 1 9.9 SLC4A4 SLC4A11
32 corneal disease 9.9 VSX1 SLC4A11 LOXHD1 COL8A2
33 corneal dystrophy, posterior polymorphous, 1 9.9 VSX1 SLC4A11 LOXHD1 COL8A2
34 keratoconus 9.7 VSX1 SLC4A11 COL8A2
35 renal tubular transport disease 9.6 SLC4A4 SLC4A1
36 corneal degeneration 9.5 VSX1 SLC4A7 SLC4A4 SLC4A11 COL8A2
37 corneal dystrophy, band-shaped 9.5 SLC4A7 SLC4A4 SLC4A11 SLC4A10 COL8A2
38 cataract 14, multiple types 9.4 SLC4A4 SLC4A2 SLC4A10
39 renal tubular acidosis 9.3 SLC4A7 SLC4A4 SLC4A2 SLC4A1

Graphical network of the top 20 diseases related to Corneal Dystrophy and Perceptive Deafness:



Diseases related to Corneal Dystrophy and Perceptive Deafness

Symptoms & Phenotypes for Corneal Dystrophy and Perceptive Deafness

Human phenotypes related to Corneal Dystrophy and Perceptive Deafness:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
2 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
3 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
4 corneal dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001131
5 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
6 opacification of the corneal stroma 31 HP:0007759
7 reduced visual acuity 31 HP:0007663

Symptoms via clinical synopsis from OMIM:

56
Eyes:
corneal dystrophy
corneal opacities

Ears:
perceptive hearing loss

Clinical features from OMIM:

217400

GenomeRNAi Phenotypes related to Corneal Dystrophy and Perceptive Deafness according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 8.92 SLC4A11 SLC4A4 SLC4A7 VSX1

MGI Mouse Phenotypes related to Corneal Dystrophy and Perceptive Deafness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.55 AQP1 SLC4A10 SLC4A11 SLC4A2 SLC4A7
2 skeleton MP:0005390 9.5 AQP1 SLC4A10 SLC4A11 SLC4A2 SLC4A4 SLC4A7
3 vision/eye MP:0005391 9.23 AQP1 COL8A2 PFDN5 RXYLT1 SLC4A11 SLC4A4

Drugs & Therapeutics for Corneal Dystrophy and Perceptive Deafness

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

Cochrane evidence based reviews: 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-Perceptive Deafness Syndrome 29 SLC4A11

Anatomical Context for Corneal Dystrophy and Perceptive Deafness

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

40
Endothelial, Eye, Brain

Publications for Corneal Dystrophy and Perceptive Deafness

Articles related to Corneal Dystrophy and Perceptive Deafness:

(show all 22)
# Title Authors PMID Year
1
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. 61 6 56
17220209 2007
2
Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13. 61 56
11836359 2002
3
Comment on 'A further observation of corneal dystrophy and perceptive deafness in two siblings'. 61 56
9695093 1998
4
A further observation of corneal dystrophy and perceptive deafness in two siblings. 61 56
9228245 1997
5
Congenital corneal dystrophy and progressive sensorineural hearing loss (Harboyan syndrome) 56
9805138 1998
6
Congenital corneal dystrophy. Progressive sensorineural deafness in a family. 56
5312820 1971
7
Gut Microbiota Composition Associated With Clostridium difficile-Positive Diarrhea and C. difficile Type in ICU Patients. 61
32477962 2020
8
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. 61
30856043 2019
9
Sports Participation, Physical Activity, and Health-Related Fitness in Youth With Chronic Diseases or Physical Disabilities: The Health in Adapted Youth Sports Study. 61
31210643 2019
10
Sports participation related to injuries and illnesses among ambulatory youth with chronic diseases: results of the health in adapted youth sports study. 61
31890227 2019
11
Brain substrates of social decision-making in dual diagnosis: cocaine dependence and personality disorders. 61
26442666 2017
12
cDPD: A new dissipative particle dynamics method for modeling electrokinetic phenomena at the mesoscale. 61
27782504 2016
13
Early Numerical Competencies of Students with Different Forms of Mathematics Difficulty. 61
22448104 2012
14
Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations. 61
22072594 2012
15
Endothelial chronic destructive pulmonary disease (E-CDPD): is endothelial apoptosis a subphenotype or prequel to COPD? 61
21765029 2011
16
SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria. 61
20185830 2010
17
CdPd sulfide heterostructured nanoparticles with metal sulfide seed-dependent morphologies. 61
19532934 2009
18
Star-shaped cationic polymers by atom transfer radical polymerization from beta-cyclodextrin cores for nonviral gene delivery. 61
19128039 2009
19
Longer intestinal persistence of Enterococcus faecalis compared to Enterococcus faecium clones in intensive-care-unit patients. 61
19052172 2009
20
Posttraumatic stress disorder among Hispanic and African-American drug users. 61
14713136 2003
21
Evaluating the effects of information technology on problem-oriented-policing. If it doesn't fit, must we quit? 61
11840640 2002
22
Wireless vital sign telemetry to hand held computers. 61
11317730 2001

Variations for Corneal Dystrophy and Perceptive Deafness

ClinVar genetic disease variations for Corneal Dystrophy and Perceptive Deafness:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC4A11 NM_001174089.2(SLC4A11):c.417_424GCTTCGCC[1] (p.Arg142fs)short repeat Pathogenic 1312 rs869320721 20:3214820-3214827 20:3234174-3234181
2 SLC4A11 NM_001174089.2(SLC4A11):c.1330_1333delinsA (p.Tyr444_Ala445delinsThr)indel Pathogenic 1313 rs869320722 20:3211243-3211246 20:3230597-3230600
3 SLC4A11 NM_001174089.2(SLC4A11):c.1415G>A (p.Arg472Lys)SNV Pathogenic 1314 rs121909393 20:3211161-3211161 20:3230515-3230515
4 SLC4A11 NM_001174089.2(SLC4A11):c.2518A>G (p.Met840Val)SNV Pathogenic 1315 rs121909396 20:3208945-3208945 20:3228299-3228299
5 SLC4A11 SLC4A11, 8-BP DUP, NT2233duplication Pathogenic 1317
6 SLC4A11 SLC4A11, 32-BP DEL, NT2423deletion Pathogenic 1318
7 SLC4A11 NM_001174089.2(SLC4A11):c.589T>C (p.Ser197Pro)SNV Pathogenic 1319 rs121909395 20:3214583-3214583 20:3233937-3233937
8 SLC4A11 NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr)SNV Likely pathogenic 522760 rs748362724 20:3209614-3209614 20:3228968-3228968
9 SLC4A11 NM_001174089.2(SLC4A11):c.2480T>C (p.Leu827Pro)SNV Likely pathogenic 1316 rs121909394 20:3208983-3208983 20:3228337-3228337

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

73
# 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

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

Pathways related to Corneal Dystrophy and Perceptive Deafness according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 SLC4A7 SLC4A4 SLC4A2 SLC4A10 SLC4A1 AQP1
2
Show member pathways
10.8 SLC4A1 AQP1
3 10.75 SLC4A4 SLC4A2 AQP1
4 10.52 SLC4A4 AQP1

GO Terms for Corneal Dystrophy and Perceptive Deafness

Cellular components related to Corneal Dystrophy and Perceptive Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.7 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10 SLC4A1
2 apical plasma membrane GO:0016324 9.35 SLC4A7 SLC4A2 SLC4A11 SLC4A10 AQP1
3 stereocilium GO:0032420 9.26 SLC4A7 LOXHD1
4 basolateral plasma membrane GO:0016323 9.17 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10 SLC4A1

Biological processes related to Corneal Dystrophy and Perceptive Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.91 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10 SLC4A1
2 anion transmembrane transport GO:0098656 9.8 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10 SLC4A1
3 transmembrane transport GO:0055085 9.76 SLC4A7 SLC4A4 SLC4A2 AQP1
4 inorganic anion transport GO:0015698 9.73 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10 SLC4A1
5 sodium ion transport GO:0006814 9.71 SLC4A7 SLC4A4 SLC4A11 SLC4A10
6 sodium ion transmembrane transport GO:0035725 9.67 SLC4A7 SLC4A4 SLC4A11 SLC4A10
7 anion transport GO:0006820 9.63 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10 SLC4A1
8 regulation of intracellular pH GO:0051453 9.43 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10 SLC4A1
9 bicarbonate transport GO:0015701 9.17 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10 SLC4A1

Molecular functions related to Corneal Dystrophy and Perceptive Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.62 SLC4A7 SLC4A4 SLC4A11 SLC4A10
2 anion:anion antiporter activity GO:0015301 9.46 SLC4A2 SLC4A11 SLC4A10 SLC4A1
3 sodium:bicarbonate symporter activity GO:0008510 9.43 SLC4A7 SLC4A4 SLC4A10
4 bicarbonate transmembrane transporter activity GO:0015106 9.37 SLC4A11 SLC4A1
5 anion transmembrane transporter activity GO:0008509 9.35 SLC4A7 SLC4A4 SLC4A2 SLC4A10 SLC4A1
6 inorganic anion exchanger activity GO:0005452 9.1 SLC4A7 SLC4A4 SLC4A2 SLC4A11 SLC4A10 SLC4A1

Sources for Corneal Dystrophy and Perceptive Deafness

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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