Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency (AH4)

Alias:
Congenital Adrenal Hyperplasia Due to 11-Beta-Hydroxylase Deficiency
Deficiency of Steroid 11-Beta-Monooxygenase
Adrenal Hyperplasia, Congenital, Due to 11-Beta-Hydroxylase Deficiency
Cah Due to 11-Beta-Hydroxylase Deficiency
Adrenal Hyperplasia, Hypertensive Form
11-Beta-Hydroxylase Deficiency
11 Beta Hydroxylase Deficiency
P450c11b1 Deficiency
Cyp11b1 Deficiency
Steroid 11-Beta-Monooxygenase Deficiency
Steroid 11-Beta-Hydroxylase Deficiency
Steroid 11 Beta Hydroxylase Deficiency
Adrenal Hyperplasia Type Iv
11b Hydroxylase Deficiency
Adrenal Hyperplasia Iv
Adrenal Hyperplasia 4
Ah-Iv
Ah4
加入收藏
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency, also known as congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, is related to lipoid congenital adrenal hyperplasia and hyperaldosteronism, familial, type i. An important gene associated with Adrenal Hyperplasia, Congenital, Due to Steroid 11-Beta-Hydroxylase Deficiency is CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1). Affiliated tissues include adrenal gland and uterus, and related phenotypes are hypertension and hypokalemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/1000000
1
11
55

Medical Symptom

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

Gene & Mutation

#
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
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top