Corneal Dystrophy-perceptive Deafness Syndrome

Description

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.

Clinical Features

Phenotypes and symptoms related to Corneal Dystrophy-perceptive Deafness Syndrome

  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment
  • Visual impairment
  • Photophobia
  • Corneal opacity
  • Opacification of the corneal stroma
  • Corneal dystrophy
  • Congenital corneal dystrophy

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Corneal Dystrophy-perceptive Deafness Syndrome Is also known as cdpd1, harboyan syndrome, corneal dystrophy with progressive deafness, cdpd, corneal dystrophy and sensorineural deafness.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Corneal Dystrophy-perceptive Deafness Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
SLC4A11.

By Institute for Human Genetics University Clinic Freiburg (Germany).

SLC4A11
Specificity
100 %
Genes
100 %
SLC4A11. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SLC4A11
Specificity
100 %
Genes
100 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, SUCLA2, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, PCDH15, OSBPL2 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Corneal endothelial dystrophy 2, AR (sequence analysis of SLC4A11 gene).

By CGC Genetics (Portugal).

SLC4A11
Specificity
100 %
Genes
100 %
Corneal Dystrophies Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Congenital Hereditary Endothelial Dystrophy Type 2 (CHED2) and Harboyan Syndrome via SLC4A11 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC4A11
Specificity
100 %
Genes
100 %
Eye Diseases - panels.

By MGZ Medical Genetics Center (Germany).

BFSP1, BFSP2, SALL2, BMP4, BMP7, SHH, SIX3, SIX6, FOXL2, SOX2, TACSTD2, ZEB1, TFAP2A, TGFBI, TGIF1, TREX1, TYR, TYRP1, VAX1, VIM , (...)

View the complete list with 146 more genes
Specificity
1 %
Genes
100 %

We have 11 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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