CORTICOSTERONE METHYL OXIDASE I DEFICIENCY- CMO I

Question 1

What is  CORTICOSTERONE METHYL OXIDASE I DEFICIENCY- CMO I?

Accepted Answer

rare
autosomal recessive
mutation in the CYP11B2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Corticosteron-Methyloxidase-Mangel Typ I; 18-Oxydase-Mangel; CMO I

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 203400

Question 4

Which enzymes are involved?

Accepted Answer

Cytochrome P450 11B2, mitochondrial

Disease	CORTICOSTERONE METHYL OXIDASE I DEFICIENCY- CMO I
Synonym	ALDOSTERONE DEFICIENCY DUE TO DEFECT IN 18-HYDROXYLASE, ALDOSTERONE DEFICIENCY I
OMIM	203400 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
Laboratory findings	18-Hydroxycorticosterone normal/dec (plasma) Aldosterone dec (plasma) Potassium inc (serum) Sodium dec (serum)
Symptoms	dehydration failure to thrive feeding difficulties, poor feeding fever growth retardation, poor growth hyperkalemia hypotension metabolic acidosis onset, infancy onset, neonatal vomiting