Hypertension and Brachydactyly Syndrome (HTNB)

Alias:
Brachydactyly with Hypertension
Bilginturan Syndrome
Brachydactyly-Arterial Hypertension Syndrome
Bilginturan Brachydactyly
Htnb
Brachydactyly, Type E, with Short Stature and Hypertension
Brachydactyly Type E, with Short Stature and Hypertension
Type E Brachydactyly with Short Stature and Hypertension
Brachydactyly Type E with Short Stature and Hypertension
Hypertension with Brachydactyly
Brachydactyly Hypertension
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypertension and Brachydactyly Syndrome, also known as brachydactyly with hypertension, is related to brachydactyly, type e1 and brachydactyly. An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A), and among its related pathways/superpathways are GPCR downstream signalling and Beta-2 adrenergic-dependent CFTR expression. Affiliated tissues include bone, and related phenotypes are hypertension and short stature
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
10
67
14

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
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