Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness (HPPD)

Alias:
Hppd
Hypertelorism-Preauricular Sinus-Punctual Pits-Hearing Loss Syndrome
Hypertelorism-Preauricular Sinus-Punctual Pits-Deafness Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness, also known as hppd, is related to hawkinsinuria and hypertelorism. An important gene associated with Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness is HPPD (Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness). Affiliated tissues include liver and brain, and related phenotypes are nasolacrimal duct obstruction and shawl scrotum

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
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--
1

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
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
Journal
Year
IF
No Data Found!
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