Details of Disease

General Information of Disease (ID: DISR735H)

Disease Name Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Synonyms classic 21-OHD CAH, salt wasting form
Definition
The salt wasting form of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classical 21 OHD CAH) is characterized by virilization of the external genitalia in females, hypocortisolism, precocious pseudopuberty and renal salt loss due to aldosterone deficiency.
Disease Hierarchy
DISMTRY0: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
DISR735H: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Disease Identifiers
MONDO ID
MONDO_0017839
UMLS CUI
C5679896
MedGen ID
1826062
Orphanet ID
315306

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP21A2 DE0JMZ5 Supportive Autosomal recessive [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CYP21A2 OTN0UDVP Supportive Autosomal recessive [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.