CMO-1 DEFICIENCY
MCID: CRT039
MIFTS: 45

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 57
Corticosterone Methyloxidase Type 1 Deficiency 20 29 6 39
Hypoaldosteronism, Congenital, Due to Cmo I Deficiency 57 13
Hyperreninemic Hypoaldosteronism, Familial, 1 57 6
Corticosterone Methyloxidase Deficiency 1 12 15
Aldosterone Synthase Deficiency 12 36
18-Hydroxylase Deficiency 57 74
Aldosterone Deficiency I 57 73
Cmo I Deficiency 57 54
Aldosterone Deficiency Due to Defect in Steroid 18-Hydroxylase 57
Aldosterone Deficiency Due to Defect in 18 Hydroxylase 20
Aldosterone Deficiency Due to Defect in 18-Hydroxylase 73
Hyperreninemic Hypoaldosteronism, Familial, 1; Fhha1a 57
Corticosterone Methyl Oxidase Type Ii Deficiency 71
Corticosterone Methyl Oxidase Type I Deficiency 71
Corticosterone Methyloxidase 1 Deficiency 73
Steroid 18-Hydroxylase Deficiency 57
18 Alpha Hydroxylase Deficiency 20
18 Hydroxylase Deficiency 20
Aldosterone Deficiency 1 20
Cmo 1 Deficiency 20
Cmo-1 Deficiency 73
Fhha1a 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
corticosterone methyloxidase type i deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course neonatal onset


Classifications:



Summaries for Corticosterone Methyloxidase Type I Deficiency

OMIM® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Corticosterone Methyloxidase Type I Deficiency, also known as corticosterone methyloxidase type 1 deficiency, is related to corticosterone methyloxidase deficiency and corticosterone methyloxidase type ii 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), and among its related pathways/superpathways are Steroid hormone biosynthesis and Cytochrome P450 - arranged by substrate type. Affiliated tissues include adrenal gland, and related phenotypes are failure to thrive and hypotension

Disease Ontology : 12 An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life.

KEGG : 36 Aldosterone synthase deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone to aldosterone. This disease is characterized by life-threatening salt-loss, failure to thrive, hyponatraemia and hyperkalaemia in early infancy. In type I deficiency, aldosterone is undetectable, whereas in type II aldosterone can be low or normal.

UniProtKB/Swiss-Prot : 73 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 : 74 Aldosterone synthase, also called steroid 18-hydroxylase, corticosterone 18-monooxygenase or P450C18, is... 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:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 corticosterone methyloxidase deficiency 32.5 LOC106799834 CYP11B2
2 corticosterone methyloxidase type ii deficiency 32.2 LOC106799834 CYP11B2
3 familial hypoaldosteronism 30.5 LOC106799834 CYP11B2
4 hypoaldosteronism 30.5 REN POMC CYP11B2
5 pseudohermaphroditism 28.1 STAR POMC NR5A1 NR0B1 HSD3B2 CYP21A2
6 lipoid congenital adrenal hyperplasia 27.9 STAR REN POMC NR5A1 NR0B1 HSD3B2
7 early-onset familial hypoaldosteronism 11.3
8 late-onset familial hypoaldosteronism 11.3
9 familial hypertension 10.2 REN CYP11B2
10 pseudohypoaldosteronism, type i, autosomal dominant 10.2 SCNN1G REN
11 premenstrual tension 10.2 REN POMC
12 benign essential hypertension 10.1 REN POMC
13 familial hyperaldosteronism 10.1 LOC106799834 CYP11B2 CYP11B1
14 nasal cavity adenocarcinoma 10.1 POMC FDX1
15 inappropriate adh syndrome 10.1 REN POMC
16 apparent mineralocorticoid excess 10.1 REN CYP11B2 CYP11B1
17 aldosterone-producing adenoma 10.1 CYP21A2 CYP11B2
18 renal tubular transport disease 10.1 SCNN1G REN
19 autosomal recessive disease 10.1
20 nonsyndromic disorders of testicular development 10.1 NR5A1 NR0B1
21 46,xy partial gonadal dysgenesis 10.1 NR5A1 NR0B1
22 nivelon-nivelon-mabille syndrome 10.0 NR5A1 NR0B1
23 sexual disorder 10.0 REN POMC
24 46,xx sex reversal 10.0 NR5A1 NR0B1
25 persistent mullerian duct syndrome 10.0 NR5A1 NR0B1
26 hypokalemia 10.0 REN POMC CYP11B1
27 cell type benign neoplasm 10.0 REN POMC CYP11B2
28 waterhouse-friderichsen syndrome 10.0 POMC CYP21A2
29 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.0 NR5A1 NR0B1
30 cytochrome p450 oxidoreductase deficiency 10.0 POMC CYP21A2
31 gonadoblastoma 10.0 NR5A1 NR0B1
32 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.0 POMC CYP21A2
33 adult syndrome 10.0 REN POMC
34 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.0
35 metabolic acidosis 10.0
36 hypospadias 10.0
37 pseudohypoaldosteronism 10.0
38 sex cord-gonadal stromal tumor 10.0 POMC NR5A1
39 cortisone reductase deficiency 9.9 POMC CYP21A2
40 glycerol kinase deficiency 9.9 NR5A1 NR0B1
41 liddle syndrome 1 9.9 SCNN1G REN CYP11B2 CYP11B1
42 infant gynecomastia 9.9
43 gynecomastia 9.9
44 mixed gonadal dysgenesis 9.9 NR5A1 CYP21A2
45 sebaceous gland disease 9.9 POMC CYP21A2
46 endocrine organ benign neoplasm 9.9 REN POMC CYP11B2 CYP11B1
47 inherited metabolic disorder 9.9 REN POMC CYP21A2
48 46,xx sex reversal 1 9.9 NR5A1 NR0B1
49 acute adrenal insufficiency 9.8 REN POMC CYP21A2
50 3-beta-hydroxysteroid dehydrogenase deficiency 9.8 HSD3B2 CYP21A2

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 hypotension 31 HP:0002615
3 feeding difficulties in infancy 31 HP:0008872
4 dehydration 31 HP:0001944
5 vomiting 31 HP:0002013
6 growth delay 31 HP:0001510
7 hyponatremia 31 HP:0002902
8 hyperkalemia 31 HP:0002153
9 recurrent fever 31 HP:0001954
10 decreased circulating aldosterone level 31 HP:0004319
11 renal salt wasting 31 HP:0000127
12 increased circulating renin level 31 HP:0000848

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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
Endocrine Features:
hypoaldosteronism

Cardiovascular Vascular:
hypotension

Abdomen Gastrointestinal:
vomiting
poor feeding

Genitourinary Kidneys:
salt-wasting

Clinical features from OMIM®:

203400 (Updated 05-Mar-2021)

UMLS symptoms related to Corticosterone Methyloxidase Type I Deficiency:


vomiting

GenomeRNAi Phenotypes related to Corticosterone Methyloxidase Type I Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 CYP11B1 CYP21A2 HSD3B2 NR0B1 POMC STAR

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 29 CYP11B2

Anatomical Context for Corticosterone Methyloxidase Type I Deficiency

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

40
Adrenal Gland

Publications for Corticosterone Methyloxidase Type I Deficiency

Articles related to Corticosterone Methyloxidase Type I Deficiency:

(show all 18)
# Title Authors PMID Year
1
Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. 54 6 57
8439335 1993
2
Type 1 aldosterone synthase deficiency presenting in a middle-aged man. 57 6
11238478 2001
3
Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. 6 57
9814506 1998
4
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997. 57 6
9360501 1997
5
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. 6 57
14250395 1964
6
CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). 54 6
9177280 1997
7
A particular phenotype in a girl with aldosterone synthase deficiency. 6
15240589 2004
8
A compound heterozygote case of type II aldosterone synthase deficiency. 6
12788848 2003
9
Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II. 6
9625333 1998
10
Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. 6
1594605 1992
11
Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. 6
1346492 1992
12
Severe hypoaldosteronism due to corticosterone methyl oxidase type II deficiency in two boys: metabolic and gas chromatography-mass spectrometry studies. 6
2044581 1991
13
An inherited defect in aldosterone biosynthesis caused by a mutation in or near the gene for steroid 11-hydroxylase. 6
3262827 1988
14
The effect of ACTH stimulation on plasma steroids in two patients with congenital hypoaldosteronism and in their relatives. 57
6277129 1982
15
The nature of the defect in a salt-wasting disorder in Jews of Iran. 6
838841 1977
16
Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait. 6
830445 1977
17
Salt wasting, raised plasma-renin activity, and normal or high plasma-aldosterone: a form of pseudohypoaldosteronism. 6
4121586 1973
18
Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. 61 54
7852500 1995

Variations for Corticosterone Methyloxidase Type I Deficiency

ClinVar genetic disease variations for Corticosterone Methyloxidase Type I Deficiency:

6 (show top 50) (show all 207)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP11B2 CYP11B2, 5-BP DEL Deletion Pathogenic 16878
2 LOC106799834 NM_000498.3(CYP11B2):c.1382T>C (p.Leu461Pro) SNV Pathogenic 16879 rs72554627 8:143993962-143993962 8:142912546-142912546
3 LOC106799834 NM_000498.3(CYP11B2):c.763G>T (p.Glu255Ter) SNV Pathogenic 16880 rs121912977 8:143996157-143996157 8:142914741-142914741
4 CYP11B2 CYP11B2, 6-BP DUP, CODON 143 Duplication Pathogenic 16882
5 LOC106799834 NM_000498.3(CYP11B2):c.1492A>G (p.Thr498Ala) SNV Pathogenic 16885 rs72554626 8:143993416-143993416 8:142912000-142912000
6 LOC106799834 NM_000498.3(CYP11B2):c.814C>T (p.Gln272Ter) SNV Pathogenic 16886 rs121912979 8:143995820-143995820 8:142914404-142914404
7 LOC106799834 NM_000498.3(CYP11B2):c.541C>T (p.Arg181Trp) SNV Pathogenic 16876 rs28931609 8:143996516-143996516 8:142915100-142915100
8 LOC106799834 NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) SNV Pathogenic 16877 rs61757294 8:143994266-143994266 8:142912850-142912850
9 LOC106799834 NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) SNV Pathogenic 16881 rs121912978 8:143996503-143996503 8:142915087-142915087
10 LOC106799834 NM_000498.3(CYP11B2):c.594A>C (p.Glu198Asp) SNV Likely pathogenic 242702 rs104894072 8:143996463-143996463 8:142915047-142915047
11 LOC106799834 NM_000498.3(CYP11B2):c.139_148del (p.Gly46_Asn47insTer) Deletion Likely pathogenic 847988 8:143999109-143999118 8:142917693-142917702
12 LOC106799834 NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=) SNV Uncertain significance 741055 rs371126595 8:143993991-143993991 8:142912575-142912575
13 LOC106799834 NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=) SNV Uncertain significance 795339 rs763197267 8:143994736-143994736 8:142913320-142913320
14 LOC106799834 NM_000498.3(CYP11B2):c.342G>A (p.Glu114=) SNV Uncertain significance 766470 rs779683417 8:143998528-143998528 8:142917112-142917112
15 LOC106799834 NM_000498.3(CYP11B2):c.*504C>T SNV Uncertain significance 362185 rs201487778 8:143992892-143992892 8:142911476-142911476
16 LOC106799834 NM_000498.3(CYP11B2):c.395+10G>A SNV Uncertain significance 362225 rs193166276 8:143998465-143998465 8:142917049-142917049
17 LOC106799834 NM_000498.3(CYP11B2):c.*204C>G SNV Uncertain significance 362190 rs773811282 8:143993192-143993192 8:142911776-142911776
18 LOC106799834 NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val) SNV Uncertain significance 910372 8:143994128-143994128 8:142912712-142912712
19 LOC106799834 NM_000498.3(CYP11B2):c.1216T>G (p.Phe406Val) SNV Uncertain significance 910372 8:143994128-143994128 8:142912712-142912712
20 LOC106799834 NM_000498.3(CYP11B2):c.1201-9C>G SNV Uncertain significance 910373 8:143994152-143994152 8:142912736-142912736
21 LOC106799834 NM_000498.3(CYP11B2):c.1201-9C>G SNV Uncertain significance 910373 8:143994152-143994152 8:142912736-142912736
22 LOC106799834 NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=) SNV Uncertain significance 795339 rs763197267 8:143994736-143994736 8:142913320-142913320
23 LOC106799834 NM_000498.3(CYP11B2):c.1086G>C (p.Leu362=) SNV Uncertain significance 795339 rs763197267 8:143994736-143994736 8:142913320-142913320
24 LOC106799834 NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) SNV Uncertain significance 783026 rs4547 8:143996177-143996177 8:142914761-142914761
25 LOC106799834 NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) SNV Uncertain significance 783026 rs4547 8:143996177-143996177 8:142914761-142914761
26 LOC106799834 NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu) SNV Uncertain significance 910598 8:143996608-143996608 8:142915192-142915192
27 LOC106799834 NM_000498.3(CYP11B2):c.449C>T (p.Ser150Leu) SNV Uncertain significance 910598 8:143996608-143996608 8:142915192-142915192
28 LOC106799834 NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp) SNV Uncertain significance 910599 8:143996630-143996630 8:142915214-142915214
29 LOC106799834 NM_000498.3(CYP11B2):c.427C>T (p.Arg143Trp) SNV Uncertain significance 910599 8:143996630-143996630 8:142915214-142915214
30 LOC106799834 NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) SNV Uncertain significance 740402 rs148205451 8:143999248-143999248 8:142917832-142917832
31 LOC106799834 NM_000498.3(CYP11B2):c.*993A>G SNV Uncertain significance 911201 8:143992403-143992403 8:142910987-142910987
32 LOC106799834 NM_000498.3(CYP11B2):c.*993A>G SNV Uncertain significance 911201 8:143992403-143992403 8:142910987-142910987
33 LOC106799834 NM_000498.3(CYP11B2):c.*613C>T SNV Uncertain significance 911265 8:143992783-143992783 8:142911367-142911367
34 LOC106799834 NM_000498.3(CYP11B2):c.*613C>T SNV Uncertain significance 911265 8:143992783-143992783 8:142911367-142911367
35 LOC106799834 NM_000498.3(CYP11B2):c.*591T>G SNV Uncertain significance 911266 8:143992805-143992805 8:142911389-142911389
36 LOC106799834 NM_000498.3(CYP11B2):c.*591T>G SNV Uncertain significance 911266 8:143992805-143992805 8:142911389-142911389
37 LOC106799834 NM_000498.3(CYP11B2):c.*879G>A SNV Uncertain significance 911396 8:143992517-143992517 8:142911101-142911101
38 LOC106799834 NM_000498.3(CYP11B2):c.*879G>A SNV Uncertain significance 911396 8:143992517-143992517 8:142911101-142911101
39 LOC106799834 NM_000498.3(CYP11B2):c.*876C>A SNV Uncertain significance 911397 8:143992520-143992520 8:142911104-142911104
40 LOC106799834 NM_000498.3(CYP11B2):c.*876C>A SNV Uncertain significance 911397 8:143992520-143992520 8:142911104-142911104
41 LOC106799834 NM_000498.3(CYP11B2):c.*25A>C SNV Uncertain significance 911520 8:143993371-143993371 8:142911955-142911955
42 LOC106799834 NM_000498.3(CYP11B2):c.*25A>C SNV Uncertain significance 911520 8:143993371-143993371 8:142911955-142911955
43 LOC106799834 NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) SNV Uncertain significance 911712 8:143995789-143995789 8:142914373-142914373
44 LOC106799834 NM_000498.3(CYP11B2):c.845G>A (p.Arg282His) SNV Uncertain significance 911712 8:143995789-143995789 8:142914373-142914373
45 LOC106799834 NM_000498.3(CYP11B2):c.9C>A (p.Leu3=) SNV Uncertain significance 740402 rs148205451 8:143999248-143999248 8:142917832-142917832
46 LOC106799834 NM_000498.3(CYP11B2):c.529C>T (p.Leu177=) SNV Uncertain significance 362219 rs577489337 8:143996528-143996528 8:142915112-142915112
47 LOC106799834 NM_000498.3(CYP11B2):c.*789G>A SNV Uncertain significance 362176 rs61763990 8:143992607-143992607 8:142911191-142911191
48 LOC106799834 NM_000498.3(CYP11B2):c.786C>T (p.Cys262=) SNV Uncertain significance 751289 rs141645920 8:143996134-143996134 8:142914718-142914718
49 LOC106799834 NM_000498.3(CYP11B2):c.282G>A (p.Pro94=) SNV Uncertain significance 719973 rs141789054 8:143998588-143998588 8:142917172-142917172
50 LOC106799834 NM_000498.3(CYP11B2):c.240-9del Deletion Uncertain significance 708361 rs61757314 8:143998639-143998639 8:142917223-142917223

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

73
# Symbol AA change Variation ID SNP ID
1 CYP11B2 p.Leu461Pro VAR_018472 rs72554627

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

Pathways related to Corticosterone Methyloxidase Type I Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Steroid hormone biosynthesis hsa00140

Pathways related to Corticosterone Methyloxidase Type I Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 POMC FDX1 CYP21A2 CYP11B2 CYP11B1
2
Show member pathways
12.33 STAR POMC NR5A1 NR0B1 HSD3B2 CYP21A2
3 11.52 STAR POMC HSD3B2 CYP21A2 CYP11B1
4
Show member pathways
11.38 HSD3B2 CYP21A2 CYP11B2 CYP11B1
5
Show member pathways
11.07 STAR POMC HSD3B2 FDX1 CYP21A2 CYP11B2
6
Show member pathways
10.82 CYP21A2 CYP11B2 CYP11B1

GO Terms for Corticosterone Methyloxidase Type I Deficiency

Biological processes related to Corticosterone Methyloxidase Type I Deficiency according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.96 HSD3B2 FDX1 CYP21A2 CYP11B2 CYP11B1
2 steroid metabolic process GO:0008202 9.74 FDX1 CYP21A2 CYP11B2
3 male gonad development GO:0008584 9.71 STAR REN NR5A1 NR0B1
4 regulation of blood pressure GO:0008217 9.67 REN POMC CYP11B1
5 cholesterol metabolic process GO:0008203 9.67 STAR FDX1 CYP11B2 CYP11B1
6 cellular response to hormone stimulus GO:0032870 9.61 CYP11B2 CYP11B1
7 response to immobilization stress GO:0035902 9.61 REN NR0B1
8 cellular response to peptide hormone stimulus GO:0071375 9.6 CYP11B2 CYP11B1
9 response to corticosterone GO:0051412 9.59 STAR HSD3B2
10 adrenal gland development GO:0030325 9.58 NR5A1 NR0B1
11 sodium ion homeostasis GO:0055078 9.58 SCNN1G CYP11B2
12 sterol metabolic process GO:0016125 9.56 FDX1 CYP21A2 CYP11B2 CYP11B1
13 cellular response to potassium ion GO:0035865 9.55 CYP11B2 CYP11B1
14 regulation of steroid biosynthetic process GO:0050810 9.54 STAR NR5A1
15 male sex determination GO:0030238 9.52 NR5A1 NR0B1
16 sex determination GO:0007530 9.51 NR5A1 NR0B1
17 mineralocorticoid biosynthetic process GO:0006705 9.5 HSD3B2 CYP21A2 CYP11B2
18 cortisol biosynthetic process GO:0034651 9.48 CYP11B2 CYP11B1
19 cortisol metabolic process GO:0034650 9.46 CYP11B2 CYP11B1
20 C21-steroid hormone biosynthetic process GO:0006700 9.46 STAR FDX1 CYP11B2 CYP11B1
21 aldosterone biosynthetic process GO:0032342 9.43 CYP11B2 CYP11B1
22 glucocorticoid biosynthetic process GO:0006704 9.26 HSD3B2 CYP21A2 CYP11B2 CYP11B1
23 steroid biosynthetic process GO:0006694 9.1 STAR HSD3B2 FDX1 CYP21A2 CYP11B2 CYP11B1

Molecular functions related to Corticosterone Methyloxidase Type I Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.73 HSD3B2 CYP21A2 CYP11B2 CYP11B1
2 heme binding GO:0020037 9.54 CYP21A2 CYP11B2 CYP11B1
3 monooxygenase activity GO:0004497 9.5 CYP21A2 CYP11B2 CYP11B1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 CYP21A2 CYP11B2 CYP11B1
5 steroid hydroxylase activity GO:0008395 9.4 CYP21A2 CYP11B2
6 corticosterone 18-monooxygenase activity GO:0047783 9.16 CYP11B2 CYP11B1
7 steroid 11-beta-monooxygenase activity GO:0004507 8.96 CYP11B2 CYP11B1
8 iron ion binding GO:0005506 8.92 FDX1 CYP21A2 CYP11B2 CYP11B1

Sources for Corticosterone Methyloxidase Type I Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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