Corneal Dystrophy and Perceptive Deafness (CDPD)

Alias:
Corneal Dystrophy-Perceptive Deafness Syndrome
Harboyan Syndrome
Cdpd
Corneal Endothelial Dystrophy and Perceptive Deafness
Corneal Dystrophy with Progressive Deafness
Cdpd1
Corneal Dystrophy-Perceptive Hearing Loss Syndrome
Corneal Dystrophy with Progressive Hearing Loss
Corneal Dystrophy and Sensorineural Deafness
Dystrophy, Corneal, Endothelial, and Perceptive Deafness
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Corneal Dystrophy and Perceptive Deafness, also known as corneal dystrophy-perceptive deafness syndrome, is related to corneal dystrophy and corneal edema. An important gene associated with Corneal Dystrophy and Perceptive Deafness is SLC4A11 (Solute Carrier Family 4 Member 11), and among its related pathways/superpathways is Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include endothelial and eye, and related phenotypes are corneal opacity and sensorineural hearing impairment
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
14
84
17

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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