CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: FHHA1B
18-&#64
OXIDASE DEFICIENCY
STEROID 18-OXIDASE DEFICIENCY
HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1
ALDOSTERONE DEFICIENCY II
ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE
CMO II DEFICIENCY
Number of Symptoms 14
OrphanetNr:
OMIM Id: 610600
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:0001278) Orthostatic hypotension 24 / 7739
3
(HPO:0000848) Increased circulating renin level 14 / 7739
4
(HPO:0004319) Hypoaldosteronism 9 / 7739
5
(HPO:0002924) Decreased circulating aldosterone level 7 / 7739
6
(HPO:0001510) Growth delay 295 / 7739
7
(HPO:0001508) Failure to thrive 454 / 7739
8
(HPO:0002153) Hyperkalemia 25 / 7739
9
(HPO:0001944) Dehydration 59 / 7739
10
(HPO:0002902) Hyponatremia 37 / 7739
11
(OMIM) Increased serum 18-hydroxycorticosterone (18-OHB) 1 / 7739
12
(OMIM) Increased 18-OHB to aldosterone ratio 1 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
(HPO:0003623) Neonatal onset 22 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated ...
Clinical Description OMIM Royer et al. (1961) and Ulick et al. (1964) first reported a familial salt-losing disorder due to a defect in aldosterone biosynthesis apparent in the neonatal period.

David et al. (1968) reported 2 infant Puerto Rican ...

Molecular genetics OMIM In affected individuals from 7 Jewish Iranian families with CMO II deficiency, Pascoe et al. (1992) identified homozygosity for 2 mutations in the CYP11B2 gene (R181W and V386A; 124080.0001). Eight asymptomatic individuals were homozygous for R181W alone and ...