Lipoid Congenital Adrenal Hyperplasia (LCAH)

Alias:
Congenital Adrenal Hyperplasia
Congenital Lipoid Adrenal Hyperplasia
Lipoid Adrenal Hyperplasia
Adrenal Hyperplasia 1
Lipoid Cah
Cah
Lipoid Hyperplasia, Congenital, of Adrenal Cortex with Male Pseudohermaphroditism
Congenital Lipoid Hyperplasia of Adrenal Cortex with Male Pseudohermaphroditism
Congenital Adrenogenital Disorders Associated with Enzyme Deficiency
Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency
Congenital Female Adrenal Pseudohermaphroditism
Hyperplasia, Adrenal, Lipoid, Congenital
Congenital Adrenal Cortical Hyperplasia
Congenital Adrenal Hyperplasia, Lipoid
Congenital Adrenal Gland Hyperplasia
Congenital Adrenogenital Syndrome
Adrenal Hyperplasia, Congenital
Congenital Hyperadrenocorticism
Adrenal Hyperplasia Congenital
Congenital Adrenogenitalism
Adrenal Hyperplasia I
Lcah
Ah1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lipoid Congenital Adrenal Hyperplasia, also known as congenital adrenal hyperplasia, is related to adrenal hyperplasia, congenital, due to steroid 11-beta-hydroxylase deficiency and adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency. An important gene associated with Lipoid Congenital Adrenal Hyperplasia is STAR (Steroidogenic Acute Regulatory Protein), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. The drugs Prednisone and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include adrenal cortex and cortex, and related phenotypes are hypospadias and renal salt wasting
Related ID:
MESH:D000312
ICD11:172733763

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
1-5/10000
73
552
203

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

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PMID
Journal
Year
IF
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