CMO-1 DEFICIENCY
MCID: CRT039
MIFTS: 29

Corticosterone Methyloxidase Type I Deficiency (CMO-1 DEFICIENCY)

Categories: Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corticosterone Methyloxidase Type I Deficiency

MalaCards integrated aliases for Corticosterone Methyloxidase Type I Deficiency:

Name: Corticosterone Methyloxidase Type I Deficiency 58
Corticosterone Methyloxidase Type 1 Deficiency 54 30 6 41
18-Hydroxylase Deficiency 58 77 60
Hypoaldosteronism, Congenital, Due to Cmo I Deficiency 58 13
Aldosterone Deficiency I 58 76
Cmo I Deficiency 58 56
Aldosterone Deficiency Due to Defect in Steroid 18-Hydroxylase 58
Aldosterone Deficiency Due to Defect in 18 Hydroxylase 54
Aldosterone Deficiency Due to Defect in 18-Hydroxylase 76
Hyperreninemic Hypoaldosteronism, Familial, 1; Fhha1a 58
Familial Hyperreninemic Hypoaldosteronism Type 1 60
Corticosterone Methyl Oxidase Type Ii Deficiency 74
Corticosterone Methyl Oxidase Type I Deficiency 74
Corticosterone Methyloxidase Deficiency Type I 60
Hyperreninemic Hypoaldosteronism, Familial, 1 58
Corticosterone Methyloxidase 1 Deficiency 76
Steroid 18-Hydroxylase Deficiency 58
18 Alpha Hydroxylase Deficiency 54
Aldosterone Synthase Deficiency 60
18 Hydroxylase Deficiency 54
Aldosterone Deficiency 1 54
18-Oxidase Deficiency 60
Cmo 1 Deficiency 54
Cmo-1 Deficiency 76
Fhha1a 58
Cmo Ii 60
Cmo I 60
Fhha1 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in neonatal period
infants may have acute life-threatening crises
symptoms ameliorate with age
adults may be asymptomatic
allelic disorder to corticosterone methyloxidase type ii deficiency


HPO:

33
corticosterone methyloxidase type i deficiency:
Onset and clinical course neonatal onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare endocrine diseases


Summaries for Corticosterone Methyloxidase Type I Deficiency

OMIM : 58 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. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency (610600), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998). (203400)

MalaCards based summary : Corticosterone Methyloxidase Type I Deficiency, also known as corticosterone methyloxidase type 1 deficiency, is related to hyperreninemic hypoaldosteronism, familial, 2 and corticosterone methyloxidase deficiency, and has symptoms including vomiting An important gene associated with Corticosterone Methyloxidase Type I Deficiency is CYP11B2 (Cytochrome P450 Family 11 Subfamily B Member 2). Affiliated tissues include cortex and adrenal cortex, and related phenotypes are failure to thrive and hypotension

UniProtKB/Swiss-Prot : 76 Corticosterone methyloxidase 1 deficiency: Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal.

Wikipedia : 77 Aldosterone synthase is a steroid hydroxylase cytochrome P450 enzyme involved in the biosynthesis of the... more...

Related Diseases for Corticosterone Methyloxidase Type I Deficiency

Diseases related to Corticosterone Methyloxidase Type I Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hyperreninemic hypoaldosteronism, familial, 2 11.5
2 corticosterone methyloxidase deficiency 11.4
3 corticosterone methyloxidase type ii deficiency 11.3
4 pseudohermaphroditism 10.1
5 hypoaldosteronism 10.1
6 hypospadias 9.9

Graphical network of the top 20 diseases related to Corticosterone Methyloxidase Type I Deficiency:



Diseases related to Corticosterone Methyloxidase Type I Deficiency

Symptoms & Phenotypes for Corticosterone Methyloxidase Type I Deficiency

Human phenotypes related to Corticosterone Methyloxidase Type I Deficiency:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 hypotension 33 HP:0002615
3 feeding difficulties in infancy 33 HP:0008872
4 dehydration 33 HP:0001944
5 vomiting 33 HP:0002013
6 growth delay 33 HP:0001510
7 hyponatremia 33 HP:0002902
8 renal salt wasting 33 HP:0000127
9 increased circulating renin level 33 HP:0000848
10 hyperkalemia 33 HP:0002153
11 decreased circulating aldosterone level 33 HP:0004319
12 recurrent fever 33 HP:0001954

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive
growth retardation

Metabolic Features:
dehydration
intermittent fever

Laboratory Abnormalities:
hyponatremia
hyperkalemia
decreased serum aldosterone
increased serum corticosterone
increased serum ratio of corticosterone to 18-hydroxycorticosterone (18-ohb)
more
Genitourinary Kidneys:
salt-wasting

Cardiovascular Vascular:
hypotension

Abdomen Gastrointestinal:
vomiting
poor feeding

Endocrine Features:
hypoaldosteronism

Clinical features from OMIM:

203400

UMLS symptoms related to Corticosterone Methyloxidase Type I Deficiency:


vomiting

Drugs & Therapeutics for Corticosterone Methyloxidase Type I Deficiency

Search Clinical Trials , NIH Clinical Center for Corticosterone Methyloxidase Type I Deficiency

Genetic Tests for Corticosterone Methyloxidase Type I Deficiency

Genetic tests related to Corticosterone Methyloxidase Type I Deficiency:

# Genetic test Affiliating Genes
1 Corticosterone Methyloxidase Type 1 Deficiency 30 CYP11B2

Anatomical Context for Corticosterone Methyloxidase Type I Deficiency

MalaCards organs/tissues related to Corticosterone Methyloxidase Type I Deficiency:

42
Cortex, Adrenal Cortex

Publications for Corticosterone Methyloxidase Type I Deficiency

Articles related to Corticosterone Methyloxidase Type I Deficiency:

# Title Authors Year
1
A particular phenotype in a girl with aldosterone synthase deficiency. ( 15240589 )
2004
2
Type 1 aldosterone synthase deficiency presenting in a middle-aged man. ( 11238478 )
2001
3
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. ( 9814506 )
1998
4
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997. ( 9360501 )
1997
5
CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). ( 9177280 )
1997
6
Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. ( 7852500 )
1995
7
Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. ( 8439335 )
1993
8
Combined 17 alpha- and 18-hydroxylase deficiency associated with complete male pseudohermaphroditism and hypoaldosteronism. ( 312294 )
1978
9
A NEW HEREDITARY DEFECT IN THE BIOSYNTHESIS OF ALDOSTERONE: URINARY C21-CORTICOSTEROID PATTERN IN THREE RELATED PATIENTS WITH A SALT-LOSING SYNDROME, SUGGESTING AN 18-OXIDATION DEFECT. ( 14250395 )
1964

Variations for Corticosterone Methyloxidase Type I Deficiency

UniProtKB/Swiss-Prot genetic disease variations for Corticosterone Methyloxidase Type I Deficiency:

76
# Symbol AA change Variation ID SNP ID
1 CYP11B2 p.Leu461Pro VAR_018472 rs72554627

ClinVar genetic disease variations for Corticosterone Methyloxidase Type I Deficiency:

6 (show top 50) (show all 126)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP11B2 NM_000498.3(CYP11B2): c.1157T> C (p.Val386Ala) single nucleotide variant Benign rs61757294 GRCh37 Chromosome 8, 143994266: 143994266
2 CYP11B2 NM_000498.3(CYP11B2): c.1157T> C (p.Val386Ala) single nucleotide variant Benign rs61757294 GRCh38 Chromosome 8, 142912850: 142912850
3 CYP11B2 CYP11B2, 5-BP DEL deletion Pathogenic
4 CYP11B2 NM_000498.3(CYP11B2): c.1382T> C (p.Leu461Pro) single nucleotide variant Pathogenic rs72554627 GRCh37 Chromosome 8, 143993962: 143993962
5 CYP11B2 NM_000498.3(CYP11B2): c.1382T> C (p.Leu461Pro) single nucleotide variant Pathogenic rs72554627 GRCh38 Chromosome 8, 142912546: 142912546
6 CYP11B2 NM_000498.3(CYP11B2): c.763G> T (p.Glu255Ter) single nucleotide variant Pathogenic rs121912977 GRCh37 Chromosome 8, 143996157: 143996157
7 CYP11B2 NM_000498.3(CYP11B2): c.763G> T (p.Glu255Ter) single nucleotide variant Pathogenic rs121912977 GRCh38 Chromosome 8, 142914741: 142914741
8 CYP11B2 CYP11B2, 6-BP DUP, CODON 143 duplication Pathogenic
9 CYP11B2 NM_000498.3(CYP11B2): c.594A> C (p.Glu198Asp) single nucleotide variant no interpretation for the single variant rs104894072 GRCh37 Chromosome 8, 143996463: 143996463
10 CYP11B2 NM_000498.3(CYP11B2): c.594A> C (p.Glu198Asp) single nucleotide variant no interpretation for the single variant rs104894072 GRCh38 Chromosome 8, 142915047: 142915047
11 CYP11B2 NM_000498.3(CYP11B2): c.*1047C> T single nucleotide variant Uncertain significance rs886062739 GRCh37 Chromosome 8, 143992349: 143992349
12 CYP11B2 NM_000498.3(CYP11B2): c.*1047C> T single nucleotide variant Uncertain significance rs886062739 GRCh38 Chromosome 8, 142910933: 142910933
13 CYP11B2 NM_000498.3(CYP11B2): c.*746G> A single nucleotide variant Likely benign rs570202161 GRCh37 Chromosome 8, 143992650: 143992650
14 CYP11B2 NM_000498.3(CYP11B2): c.*746G> A single nucleotide variant Likely benign rs570202161 GRCh38 Chromosome 8, 142911234: 142911234
15 CYP11B2 NM_000498.3(CYP11B2): c.*566C> T single nucleotide variant Likely benign rs375938097 GRCh38 Chromosome 8, 142911414: 142911414
16 CYP11B2 NM_000498.3(CYP11B2): c.*566C> T single nucleotide variant Likely benign rs375938097 GRCh37 Chromosome 8, 143992830: 143992830
17 CYP11B2 NM_000498.3(CYP11B2): c.*239T> C single nucleotide variant Benign rs9297975 GRCh38 Chromosome 8, 142911741: 142911741
18 CYP11B2 NM_000498.3(CYP11B2): c.*239T> C single nucleotide variant Benign rs9297975 GRCh37 Chromosome 8, 143993157: 143993157
19 CYP11B2 NM_000498.3(CYP11B2): c.*81G> A single nucleotide variant Benign rs3097 GRCh37 Chromosome 8, 143993315: 143993315
20 CYP11B2 NM_000498.3(CYP11B2): c.*81G> A single nucleotide variant Benign rs3097 GRCh38 Chromosome 8, 142911899: 142911899
21 CYP11B2 NM_000498.3(CYP11B2): c.1170G> A (p.Leu390=) single nucleotide variant Benign rs5313 GRCh38 Chromosome 8, 142912837: 142912837
22 CYP11B2 NM_000498.3(CYP11B2): c.1170G> A (p.Leu390=) single nucleotide variant Benign rs5313 GRCh37 Chromosome 8, 143994253: 143994253
23 CYP11B2 NM_000498.3(CYP11B2): c.1144T> C (p.Leu382=) single nucleotide variant Likely benign rs61757295 GRCh38 Chromosome 8, 142912863: 142912863
24 CYP11B2 NM_000498.3(CYP11B2): c.1144T> C (p.Leu382=) single nucleotide variant Likely benign rs61757295 GRCh37 Chromosome 8, 143994279: 143994279
25 CYP11B2 NM_000498.3(CYP11B2): c.1006G> A (p.Val336Met) single nucleotide variant Uncertain significance rs373369254 GRCh37 Chromosome 8, 143994816: 143994816
26 CYP11B2 NM_000498.3(CYP11B2): c.1006G> A (p.Val336Met) single nucleotide variant Uncertain significance rs373369254 GRCh38 Chromosome 8, 142913400: 142913400
27 CYP11B2 NM_000498.3(CYP11B2): c.959C> T (p.Ala320Val) single nucleotide variant Likely benign rs201830462 GRCh37 Chromosome 8, 143994863: 143994863
28 CYP11B2 NM_000498.3(CYP11B2): c.959C> T (p.Ala320Val) single nucleotide variant Likely benign rs201830462 GRCh38 Chromosome 8, 142913447: 142913447
29 CYP11B2 NM_000498.3(CYP11B2): c.891G> A (p.Ala297=) single nucleotide variant Benign rs4543 GRCh37 Chromosome 8, 143995743: 143995743
30 CYP11B2 NM_000498.3(CYP11B2): c.891G> A (p.Ala297=) single nucleotide variant Benign rs4543 GRCh38 Chromosome 8, 142914327: 142914327
31 CYP11B2 NM_000498.3(CYP11B2): c.842A> G (p.Asn281Ser) single nucleotide variant Likely benign rs4537 GRCh37 Chromosome 8, 143995792: 143995792
32 CYP11B2 NM_000498.3(CYP11B2): c.842A> G (p.Asn281Ser) single nucleotide variant Likely benign rs4537 GRCh38 Chromosome 8, 142914376: 142914376
33 CYP11B2 NM_000498.3(CYP11B2): c.800-14T> C single nucleotide variant Uncertain significance rs563246146 GRCh37 Chromosome 8, 143995848: 143995848
34 CYP11B2 NM_000498.3(CYP11B2): c.800-14T> C single nucleotide variant Uncertain significance rs563246146 GRCh38 Chromosome 8, 142914432: 142914432
35 CYP11B2 NM_000498.3(CYP11B2): c.752A> G (p.Lys251Arg) single nucleotide variant Likely benign rs752962897 GRCh37 Chromosome 8, 143996168: 143996168
36 CYP11B2 NM_000498.3(CYP11B2): c.752A> G (p.Lys251Arg) single nucleotide variant Likely benign rs752962897 GRCh38 Chromosome 8, 142914752: 142914752
37 CYP11B2 NM_000498.3(CYP11B2): c.674A> G (p.His225Arg) single nucleotide variant Uncertain significance rs144140791 GRCh37 Chromosome 8, 143996246: 143996246
38 CYP11B2 NM_000498.3(CYP11B2): c.674A> G (p.His225Arg) single nucleotide variant Uncertain significance rs144140791 GRCh38 Chromosome 8, 142914830: 142914830
39 CYP11B2 NM_000498.3(CYP11B2): c.640C> G (p.His214Asp) single nucleotide variant Likely benign rs551933154 GRCh37 Chromosome 8, 143996280: 143996280
40 CYP11B2 NM_000498.3(CYP11B2): c.640C> G (p.His214Asp) single nucleotide variant Likely benign rs551933154 GRCh38 Chromosome 8, 142914864: 142914864
41 CYP11B2 NM_000498.3(CYP11B2): c.606A> G (p.Leu202=) single nucleotide variant Likely benign rs113284476 GRCh37 Chromosome 8, 143996314: 143996314
42 CYP11B2 NM_000498.3(CYP11B2): c.606A> G (p.Leu202=) single nucleotide variant Likely benign rs113284476 GRCh38 Chromosome 8, 142914898: 142914898
43 CYP11B2 NM_000498.3(CYP11B2): c.595+15G> T single nucleotide variant Uncertain significance rs886062743 GRCh37 Chromosome 8, 143996447: 143996447
44 CYP11B2 NM_000498.3(CYP11B2): c.595+15G> T single nucleotide variant Uncertain significance rs886062743 GRCh38 Chromosome 8, 142915031: 142915031
45 CYP11B2 NM_000498.3(CYP11B2): c.591A> G (p.Ile197Met) single nucleotide variant Uncertain significance rs886062744 GRCh37 Chromosome 8, 143996466: 143996466
46 CYP11B2 NM_000498.3(CYP11B2): c.591A> G (p.Ile197Met) single nucleotide variant Uncertain significance rs886062744 GRCh38 Chromosome 8, 142915050: 142915050
47 CYP11B2 NM_000498.3(CYP11B2): c.504C> T (p.Phe168=) single nucleotide variant Benign rs4546 GRCh37 Chromosome 8, 143996553: 143996553
48 CYP11B2 NM_000498.3(CYP11B2): c.504C> T (p.Phe168=) single nucleotide variant Benign rs4546 GRCh38 Chromosome 8, 142915137: 142915137
49 CYP11B2 NM_000498.3(CYP11B2): c.476C> T (p.Pro159Leu) single nucleotide variant Likely benign rs563073392 GRCh37 Chromosome 8, 143996581: 143996581
50 CYP11B2 NM_000498.3(CYP11B2): c.476C> T (p.Pro159Leu) single nucleotide variant Likely benign rs563073392 GRCh38 Chromosome 8, 142915165: 142915165

Expression for Corticosterone Methyloxidase Type I Deficiency

Search GEO for disease gene expression data for Corticosterone Methyloxidase Type I Deficiency.

Pathways for Corticosterone Methyloxidase Type I Deficiency

GO Terms for Corticosterone Methyloxidase Type I Deficiency

Sources for Corticosterone Methyloxidase Type I Deficiency

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