CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: CMO I DEFICIENCY
FHHA1A
ALDOSTERONE DEFICIENCY I
ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE
HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1
STEROID 18-&#64
HYDROXYLASE DEFICIENCY
18-&#64
HYDROXYLASE DEFICIENCY
Number of Symptoms 17
OrphanetNr:
OMIM Id: 203400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Neonatal onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000127) Renal salt wasting 21 / 7739
2
 (HPO:0000848) Increased circulating renin level 14 / 7739
3
 (HPO:0002924) Decreased circulating aldosterone level 7 / 7739
4
 (HPO:0004319) Hypoaldosteronism 9 / 7739
5
 (HPO:0002013) Vomiting 191 / 7739
6
 (HPO:0011968) Feeding difficulties 240 / 7739
7
 (HPO:0001510) Growth delay 295 / 7739
8
 (HPO:0001508) Failure to thrive 454 / 7739
9
 (HPO:0002615) Hypotension 52 / 7739
10
 (HPO:0002153) Hyperkalemia 25 / 7739
11
 (HPO:0002902) Hyponatremia 37 / 7739
12
 (HPO:0001954) Episodic fever 27 / 7739
13
 (HPO:0001944) Dehydration 59 / 7739
14
 (OMIM) Increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-OHB) 1 / 7739
15
 (OMIM) Normal urinary 17-ketosteroids 1 / 7739
16
 (OMIM) Decreased serum 18-OHB 1 / 7739
17
 (OMIM) Increased serum corticosterone 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. ...
Clinical Description OMIM Visser and Cost (1964) and Degenhart et al. (1966) reported 3 Dutch infants, from a large consanguineous family, who presented in early infancy with dehydration, failure to thrive, poor feeding, vomiting, and intermittent fever. Laboratory studies showed hyponatremia ...
Molecular genetics OMIM In 3 Amish patients with CMO type I deficiency, Mitsuuchi et al. (1993) identified a homozygous 5-bp deletion in the CYP11B2 gene (124080.0003).

In 2 individuals with CMO I deficiency reported by Visser and Cost (1964), ...