CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II

Question 1

What is  CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II?

Accepted Answer

rare
autosomal recessive
mutation in the CYP11B2 gene
partial loss of P-450(C18) activities causes CMO II deficiency [Kuribayashi 2003]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Corticosteron-Methyloxidase-Mangel Typ II; CMO II

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610600

Question 4

Which enzymes are involved?

Accepted Answer

Cytochrome P450 11B2, mitochondrial

Disease	CORTICOSTERONE METHYL OXIDASE II DEFICIENCY - CMO II
Synonym	CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, CYP11B2, ALDOSTERONE DEFICIENCY II
OMIM	610600 OMIM = Online Mendelian Inheritance of Men
Orphanet	99763
Protein (UniProt)	Cytochrome P450 11B2, mitochondrial
ExPASy	1.14.15.4
Gene locus	8q24.3
ICD	E27.4
Summary	rare autosomal recessive mutation in the CYP11B2 gene partial loss of P-450(C18) activities causes CMO II deficiency [Kuribayashi 2003]
Laboratory findings	18-Hydroxy-11-dehydrocorticosterone inc (urine) 18-Hydroxycorticosterone inc (plasma) 18-Hydroxycorticosterone inc (urine) 18-Oxocortisol inc (urine) Aldosterone dec (plasma) Aldosterone/renin ratio dec (plasma) Corticosterone inc (urine) Potassium inc (serum) Renin activity (PRA) or renin inc (plasma) Sodium dec (serum) Sodium dec (urine)
Symptoms	dehydration diarrhea failure to thrive growth retardation, poor growth headache (severe, recurrent or occipital, migraine) hypertension metabolic acidosis onset, infancy skin, abnormal vomiting