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AICSR
MCID: ADR056
MIFTS: 56

Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete (AICSR)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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MalaCards integrated aliases for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

Name: Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 58 12 30 6 41 74
Congenital Adrenal Insufficiency 12 6 15
P450scc Deficiency 58 12 76
Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 58 13
Adrenogenital Syndrome 45 74
46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency 60
Adrenal Insufficiency Congenital with 46,xy Sex Reversal Partial or Complete 76
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal 76
Adrenal Insufficiency, Congenital 74
Xy Sex Reversal-Adrenal Failure 60
Congenital Adrenal Hyperplasia 74
Aicsr 76

Characteristics:

Orphanet epidemiological data:

60
46,xy disorder of sex development-adrenal insufficiency due to cyp11a1 deficiency
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: infantile;

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Endocrine diseases Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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Summaries for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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OMIM : 58 P450scc deficiency is a rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are grossly elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure (summary by Kim et al., 2008). Although hormonal and phenotypic features can resemble those of congenital lipoid adrenal hyperplasia (lipoid CAH; 201710), no patient with P450scc deficiency has been described with the massive adrenal enlargement typical of lipoid CAH (summary by Sahakitrungruang et al., 2011). (613743)

MalaCards based summary : Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete, also known as congenital adrenal insufficiency, is related to conn's syndrome and adrenal cortical adenoma. An important gene associated with Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete is CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. Affiliated tissues include adrenal gland, uterus and skin, and related phenotypes are agenesis of corpus callosum and failure to thrive

Disease Ontology : 12 An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive/insufficient sex hormones, has material basis in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase.

UniProtKB/Swiss-Prot : 76 Adrenal insufficiency, congenital, with 46,XY sex reversal: A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia.

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Related Diseases for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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Diseases related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 conn's syndrome 30.3 CYP11A1 CYP17A1 CYP21A2 POMC
2 adrenal cortical adenoma 29.9 CYP11A1 CYP17A1 CYP21A2 POMC SYP
3 lipoid congenital adrenal hyperplasia 29.8 C4A CYP11A1 CYP17A1 CYP21A2 POMC STAR
4 adrenocortical carcinoma, hereditary 29.5 CYP11A1 CYP17A1 CYP21A2 INHA POMC STAR
5 achard thiers syndrome 11.2
6 luteoma 10.4 STAR CYP21A2
7 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.4 CYP21A2 POMC
8 ovarian small cell carcinoma 10.3 SYP INHA
9 acute adrenal insufficiency 10.3 CYP11A1 CYP21A2 POMC
10 adrenal cortical hypofunction 10.3 CYP11A1 CYP21A2 POMC
11 gangliocytoma 10.3 SYP POMC
12 premature ovarian failure 1 10.3 STAR INHA CYP11A1
13 familial glucocorticoid deficiency 10.3 NNT POMC STAR
14 pituitary-dependent cushing's disease 10.3 CYP21A2 NNT POMC
15 pancreatic endocrine carcinoma 10.3 POMC SYP
16 sella turcica neoplasm 10.3 POMC SYP
17 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.2
18 tuberculum sellae meningioma 10.2 POMC SYP
19 achalasia-addisonianism-alacrima syndrome 10.2 AAAS NNT POMC
20 olfactory nerve neoplasm 10.2 POMC SYP
21 transsexualism 10.2 CYP17A1 CYP21A2
22 immunodeficiency due to a classical component pathway complement deficiency 10.2 C4A C4B
23 sex cord-gonadal stromal tumor 10.2 INHA POMC SYP
24 juvenile dermatitis herpetiformis 10.2 C4A C4B
25 pseudohermaphroditism 10.2
26 male reproductive organ benign neoplasm 10.2 SYP POMC
27 hypoadrenocorticism, familial 10.2 CYP11A1 CYP21A2 POMC STAR
28 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.2 CYP11A1 CYP17A1 CYP21A2
29 cytochrome p450 oxidoreductase deficiency 10.1 CYP17A1 CYP21A2 POMC
30 mucinoses 10.1 POMC C4A
31 adrenal cortical carcinoma 10.1
32 hyperandrogenism 10.1 CYP17A1 CYP21A2 POMC
33 adrenal rest tumor 10.1 CYP21A2 NNT POMC SYP
34 sertoli cell tumor 10.1 INHA SYP
35 leydig cell tumor 10.1 CYP11A1 CYP17A1 CYP21A2 STAR
36 polycystic ovary syndrome 10.1 CYP11A1 CYP17A1 CYP21A2 STAR
37 epilepsy, familial temporal lobe, 2 10.1 C4B C4A
38 premature ovarian failure 7 10.0
39 adrenal cortical adenocarcinoma 10.0
40 seminoma 10.0
41 adenoma 10.0
42 adrenal adenoma 10.0 CYP11A1 CYP17A1 CYP21A2 POMC
43 pediatric systemic lupus erythematosus 10.0 C4A C4B
44 eating disorder 10.0 LEPR MC4R POMC
45 overnutrition 10.0 LEPR MC4R POMC
46 acquired metabolic disease 10.0 LEPR MC4R POMC
47 abducens nerve disease 9.9 POMC SYP
48 anorexia nervosa 9.9 POMC MC4R LEPR
49 testicular leydig cell tumor 9.9 CYP11A1 CYP17A1 CYP21A2 POMC STAR
50 acanthosis nigricans 9.9

Graphical network of the top 20 diseases related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:



Diseases related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete
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Symptoms & Phenotypes for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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Human phenotypes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

60 33 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 60 33 hallmark (90%) Very frequent (99-80%) HP:0001274
2 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hypotension 60 33 hallmark (90%) Very frequent (99-80%) HP:0002615
4 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
5 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
6 dehydration 60 33 hallmark (90%) Very frequent (99-80%) HP:0001944
7 vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002013
8 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000939
9 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
10 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
11 absence of secondary sex characteristics 60 33 hallmark (90%) Very frequent (99-80%) HP:0008187
12 decreased testicular size 60 33 hallmark (90%) Very frequent (99-80%) HP:0008734
13 decreased fertility 60 33 hallmark (90%) Very frequent (99-80%) HP:0000144
14 hyponatremia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002902
15 gynecomastia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000771
16 male pseudohermaphroditism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000037
17 neonatal hypoglycemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001998
18 ambiguous genitalia, male 60 33 hallmark (90%) Very frequent (99-80%) HP:0000033
19 urogenital sinus anomaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0100779
20 renal salt wasting 60 33 hallmark (90%) Very frequent (99-80%) HP:0000127
21 aplasia of the uterus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000151
22 increased circulating renin level 60 33 hallmark (90%) Very frequent (99-80%) HP:0000848
23 acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001941
24 hyperkalemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002153
25 decreased circulating aldosterone level 60 33 hallmark (90%) Very frequent (99-80%) HP:0004319
26 increased circulating acth level 60 33 hallmark (90%) Very frequent (99-80%) HP:0003154
27 hypernatriuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0012605
28 generalized bronze hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007574
29 low maternal serum estriol 60 33 hallmark (90%) Very frequent (99-80%) HP:0008073
30 decreased circulating cortisol level 60 33 hallmark (90%) Very frequent (99-80%) HP:0008163
31 female external genitalia in individual with 46,xy karyotype 60 33 hallmark (90%) Very frequent (99-80%) HP:0008730
32 abnormality of the leydig cells 60 33 hallmark (90%) Very frequent (99-80%) HP:0010789
33 hypovolemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011106
34 adrenocorticotropic hormone excess 60 33 hallmark (90%) Very frequent (99-80%) HP:0011749
35 sex reversal 60 33 hallmark (90%) Very frequent (99-80%) HP:0012245
36 abnormal urine potassium concentration 60 33 hallmark (90%) Very frequent (99-80%) HP:0012598
37 decreased circulating androgen level 60 33 hallmark (90%) Very frequent (99-80%) HP:0030349
38 induced vaginal delivery 60 33 hallmark (90%) Very frequent (99-80%) HP:0030369
39 abnormal circulating cholesterol concentration 33 hallmark (90%) HP:0003107
40 premature birth 60 33 frequent (33%) Frequent (79-30%) HP:0001622
41 adrenal hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0000835
42 elevated circulating follicle stimulating hormone level 60 33 frequent (33%) Frequent (79-30%) HP:0008232
43 elevated circulating luteinizing hormone level 60 33 frequent (33%) Frequent (79-30%) HP:0011969
44 midshaft hypospadias 60 33 occasional (7.5%) Occasional (29-5%) HP:0012854
45 clitoral hypertrophy 33 occasional (7.5%) HP:0008665
46 reduced bone mineral density 60 Very frequent (99-80%)
47 primary adrenal insufficiency 60 Very frequent (99-80%)
48 hyperaldosteronism 33 HP:0000859
49 abnormality of the vagina 60 Occasional (29-5%)
50 generalized hyperpigmentation 60 Very frequent (99-80%)

Clinical features from OMIM:

613743

GenomeRNAi Phenotypes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

27 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.37 GZMM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.37 C4A C4B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.37 C4A C4B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.37 C4A C4B
5 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.37 GZMM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.37 GZMM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.37 FDX1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.37 FDX1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.37 C4A C4B FDX1 GZMM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.37 FDX1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.37 GZMM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.37 C4A C4B
13 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.37 FDX1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.37 C4A C4B
15 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.37 FDX1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.37 GZMM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.37 FDX1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.37 C4A C4B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-44 10.37 GZMM
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.37 C4A C4B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.37 C4A C4B
22 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.37 GZMM
23 no effect GR00402-S-1 9.9 AAAS C4A C4B CYP11A1 CYP17A1 CYP21A2
24 Increased transferrin (TF) endocytosis GR00363-A 9.7 CYP11A1 CYP21A2 DECR1 FDXR INHA MC4R

MGI Mouse Phenotypes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 AAAS C4B CYP11A1 CYP17A1 DECR1 INHA
2 liver/biliary system MP:0005370 9.56 C4B CYP11A1 DECR1 INHA LEPR MC4R
3 reproductive system MP:0005389 9.23 AAAS CYP11A1 CYP17A1 INHA LEPR MC4R
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Drugs & Therapeutics for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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Search Clinical Trials , NIH Clinical Center for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: adrenogenital syndrome

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Genetic Tests for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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Genetic tests related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

# Genetic test Affiliating Genes
1 Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete 30 CYP11A1
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Anatomical Context for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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MalaCards organs/tissues related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

42
Adrenal Gland, Uterus, Skin, Bone, Testes, Ovary, Temporal Lobe
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Publications for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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Articles related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

(show all 12)
# Title Authors Year
1
A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency. ( 29178636 )
2017
2
First case report of rare congenital adrenal insufficiency caused by mutations in the CYP11A1 gene in the Czech Republic. ( 27008691 )
2016
3
Hydrocortisone malabsorption due to polyethylene glycols (Macrogol 3350) in a girl with congenital adrenal insufficiency. ( 25255796 )
2014
4
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test. ( 24265530 )
2013
5
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. ( 21159840 )
2011
6
A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient. ( 19116240 )
2009
7
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc. ( 18182448 )
2008
8
Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. ( 16705068 )
2006
9
Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. ( 15507506 )
2005
10
Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. ( 12161514 )
2002
11
Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency. ( 11502818 )
2001
12
Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels. ( 2846958 )
1988
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Variations for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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UniProtKB/Swiss-Prot genetic disease variations for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

76
# Symbol AA change Variation ID SNP ID
1 CYP11A1 p.Ala189Val VAR_016949 rs121912811
2 CYP11A1 p.Arg353Trp VAR_016951 rs72547508
3 CYP11A1 p.Leu141Trp VAR_065241 rs121912813
4 CYP11A1 p.Leu222Pro VAR_065242 rs387906601
5 CYP11A1 p.Ala359Val VAR_065243 rs121912812
6 CYP11A1 p.Val415Glu VAR_065244 rs121912814

ClinVar genetic disease variations for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete:

6 (show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP11A1 CYP11A1, 6-BP INS insertion Pathogenic
2 CYP11A1 NM_000781.2(CYP11A1): c.1057C> T (p.Arg353Trp) single nucleotide variant Pathogenic rs72547508 GRCh37 Chromosome 15, 74632028: 74632028
3 CYP11A1 NM_000781.2(CYP11A1): c.1057C> T (p.Arg353Trp) single nucleotide variant Pathogenic rs72547508 GRCh38 Chromosome 15, 74339687: 74339687
4 CYP11A1 NM_000781.2(CYP11A1): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121912811 GRCh37 Chromosome 15, 74637444: 74637444
5 CYP11A1 NM_000781.2(CYP11A1): c.566C> T (p.Ala189Val) single nucleotide variant Pathogenic rs121912811 GRCh38 Chromosome 15, 74345103: 74345103
6 CYP11A1 CYP11A1, 1-BP DEL, 835A deletion Pathogenic
7 CYP11A1 NM_000781.2(CYP11A1): c.1076C> T (p.Ala359Val) single nucleotide variant Pathogenic rs121912812 GRCh37 Chromosome 15, 74632009: 74632009
8 CYP11A1 NM_000781.2(CYP11A1): c.1076C> T (p.Ala359Val) single nucleotide variant Pathogenic rs121912812 GRCh38 Chromosome 15, 74339668: 74339668
9 CYP11A1 CYP11A1, 1-BP INS, IVS3, T insertion Pathogenic
10 CYP11A1 NM_000781.2(CYP11A1): c.422T> G (p.Leu141Trp) single nucleotide variant Pathogenic rs121912813 GRCh37 Chromosome 15, 74640244: 74640244
11 CYP11A1 NM_000781.2(CYP11A1): c.422T> G (p.Leu141Trp) single nucleotide variant Pathogenic rs121912813 GRCh38 Chromosome 15, 74347903: 74347903
12 CYP11A1 NM_000781.2(CYP11A1): c.1244T> A (p.Val415Glu) single nucleotide variant Pathogenic rs121912814 GRCh37 Chromosome 15, 74631102: 74631102
13 CYP11A1 NM_000781.2(CYP11A1): c.1244T> A (p.Val415Glu) single nucleotide variant Pathogenic rs121912814 GRCh38 Chromosome 15, 74338761: 74338761
14 CYP11A1 NM_000781.2(CYP11A1): c.665T> C (p.Leu222Pro) single nucleotide variant Pathogenic rs387906601 GRCh37 Chromosome 15, 74636294: 74636294
15 CYP11A1 NM_000781.2(CYP11A1): c.665T> C (p.Leu222Pro) single nucleotide variant Pathogenic rs387906601 GRCh38 Chromosome 15, 74343953: 74343953
16 CYP11A1 NM_000781.2(CYP11A1): c.968T> A (p.Met323Lys) single nucleotide variant Likely pathogenic rs886041121 GRCh38 Chromosome 15, 74342999: 74342999
17 CYP11A1 NM_000781.2(CYP11A1): c.968T> A (p.Met323Lys) single nucleotide variant Likely pathogenic rs886041121 GRCh37 Chromosome 15, 74635340: 74635340
18 CYP11A1 NM_000781.2(CYP11A1): c.939C> T (p.Phe313=) single nucleotide variant Likely benign rs4986873 GRCh38 Chromosome 15, 74343028: 74343028
19 CYP11A1 NM_000781.2(CYP11A1): c.939C> T (p.Phe313=) single nucleotide variant Likely benign rs4986873 GRCh37 Chromosome 15, 74635369: 74635369
20 CYP11A1 NM_000781.2(CYP11A1): c.830-14C> G single nucleotide variant Uncertain significance rs190239248 GRCh38 Chromosome 15, 74343151: 74343151
21 CYP11A1 NM_000781.2(CYP11A1): c.830-14C> G single nucleotide variant Uncertain significance rs190239248 GRCh37 Chromosome 15, 74635492: 74635492
22 CYP11A1 NM_000781.2(CYP11A1): c.235G> A (p.Val79Ile) single nucleotide variant Uncertain significance rs143655263 GRCh37 Chromosome 15, 74659692: 74659692
23 CYP11A1 NM_000781.2(CYP11A1): c.235G> A (p.Val79Ile) single nucleotide variant Uncertain significance rs143655263 GRCh38 Chromosome 15, 74367351: 74367351
24 CYP11A1 NM_000781.2(CYP11A1): c.366C> T (p.Leu122=) single nucleotide variant Uncertain significance rs530494910 GRCh37 Chromosome 15, 74640300: 74640300
25 CYP11A1 NM_000781.2(CYP11A1): c.366C> T (p.Leu122=) single nucleotide variant Uncertain significance rs530494910 GRCh38 Chromosome 15, 74347959: 74347959
26 CYP11A1 NM_000781.2(CYP11A1): c.269+4A> G single nucleotide variant Uncertain significance rs199573967 GRCh37 Chromosome 15, 74659654: 74659654
27 CYP11A1 NM_000781.2(CYP11A1): c.269+4A> G single nucleotide variant Uncertain significance rs199573967 GRCh38 Chromosome 15, 74367313: 74367313
28 CYP11A1 NM_000781.2(CYP11A1): c.-35A> G single nucleotide variant Uncertain significance rs886051481 GRCh37 Chromosome 15, 74659961: 74659961
29 CYP11A1 NM_000781.2(CYP11A1): c.-35A> G single nucleotide variant Uncertain significance rs886051481 GRCh38 Chromosome 15, 74367620: 74367620
30 CYP11A1 NM_000781.2(CYP11A1): c.1201G> A (p.Asp401Asn) single nucleotide variant Uncertain significance rs886051479 GRCh38 Chromosome 15, 74339272: 74339272
31 CYP11A1 NM_000781.2(CYP11A1): c.1201G> A (p.Asp401Asn) single nucleotide variant Uncertain significance rs886051479 GRCh37 Chromosome 15, 74631613: 74631613
32 CYP11A1 NM_000781.2(CYP11A1): c.1099A> T (p.Met367Leu) single nucleotide variant Uncertain significance rs764270391 GRCh38 Chromosome 15, 74339645: 74339645
33 CYP11A1 NM_000781.2(CYP11A1): c.1099A> T (p.Met367Leu) single nucleotide variant Uncertain significance rs764270391 GRCh37 Chromosome 15, 74631986: 74631986
34 CYP11A1 NM_000781.2(CYP11A1): c.93G> A (p.Arg31=) single nucleotide variant Uncertain significance rs141127674 GRCh37 Chromosome 15, 74659834: 74659834
35 CYP11A1 NM_000781.2(CYP11A1): c.93G> A (p.Arg31=) single nucleotide variant Uncertain significance rs141127674 GRCh38 Chromosome 15, 74367493: 74367493
36 CYP11A1 NM_000781.2(CYP11A1): c.86G> A (p.Arg29His) single nucleotide variant Uncertain significance rs150725205 GRCh37 Chromosome 15, 74659841: 74659841
37 CYP11A1 NM_000781.2(CYP11A1): c.86G> A (p.Arg29His) single nucleotide variant Uncertain significance rs150725205 GRCh38 Chromosome 15, 74367500: 74367500
38 CYP11A1 NM_000781.2(CYP11A1): c.-59A> G single nucleotide variant Uncertain significance rs567971184 GRCh38 Chromosome 15, 74367644: 74367644
39 CYP11A1 NM_000781.2(CYP11A1): c.-59A> G single nucleotide variant Uncertain significance rs567971184 GRCh37 Chromosome 15, 74659985: 74659985
40 CYP11A1 NM_000781.2(CYP11A1): c.1164C> T (p.His388=) single nucleotide variant Uncertain significance rs537187397 GRCh38 Chromosome 15, 74339309: 74339309
41 CYP11A1 NM_000781.2(CYP11A1): c.1164C> T (p.His388=) single nucleotide variant Uncertain significance rs537187397 GRCh37 Chromosome 15, 74631650: 74631650
42 CYP11A1 NM_000781.2(CYP11A1): c.589G> C (p.Asp197His) single nucleotide variant Uncertain significance rs886051480 GRCh38 Chromosome 15, 74345080: 74345080
43 CYP11A1 NM_000781.2(CYP11A1): c.589G> C (p.Asp197His) single nucleotide variant Uncertain significance rs886051480 GRCh37 Chromosome 15, 74637421: 74637421
44 CYP11A1 NM_000781.2(CYP11A1): c.567G> A (p.Ala189=) single nucleotide variant Uncertain significance rs770022852 GRCh37 Chromosome 15, 74637443: 74637443
45 CYP11A1 NM_000781.2(CYP11A1): c.567G> A (p.Ala189=) single nucleotide variant Uncertain significance rs770022852 GRCh38 Chromosome 15, 74345102: 74345102
46 CYP11A1 NM_000781.2(CYP11A1): c.937T> C (p.Phe313Leu) single nucleotide variant Uncertain significance rs1060499732 GRCh38 Chromosome 15, 74343030: 74343030
47 CYP11A1 NM_000781.2(CYP11A1): c.937T> C (p.Phe313Leu) single nucleotide variant Uncertain significance rs1060499732 GRCh37 Chromosome 15, 74635371: 74635371
Sources

Expression for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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Search GEO for disease gene expression data for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete.
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Pathways for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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Pathways related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Metabolism 67
Show member pathways
 13.75 AAAS CYP11A1 CYP17A1 CYP21A2 DECR1 FDX1
2
Cytochrome P450 - arranged by substrate type 67
Show member pathways
 12.93 CYP11A1 CYP17A1 CYP21A2 FDX1 FDXR POMC
3
Aldosterone synthesis and secretion 38
Show member pathways
 12.67 CYP11A1 CYP17A1 CYP21A2 POMC STAR
4
Creation of C4 and C2 activators 67
Show member pathways
 11.85 C4A C4B GZMM
5
Corticotropin-releasing hormone signaling pathway 1
11.43 CYP11A1 CYP21A2 POMC STAR
6
Steroid hormone biosynthesis 38
Show member pathways
 11.36 CYP11A1 CYP17A1 CYP21A2
7
Diseases of metabolism 67
Show member pathways
 11.23 CYP11A1 FDX1 FDXR POMC
8
Ovarian steroidogenesis 38
11.12 CYP11A1 CYP17A1 STAR
9
Metabolism of steroid hormones 67
Show member pathways
 11.11 CYP11A1 CYP17A1 CYP21A2 FDX1 FDXR POMC
10
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.84 CYP17A1 CYP21A2
11
Syndecan-3-mediated signaling events 1
10.71 MC4R POMC
12
Mitochondrial iron-sulfur cluster biogenesis 67
10.39 FDX1 FDXR
Sources

GO Terms for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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Cellular components related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.92 CYP11A1 DECR1 FDX1 FDXR

Biological processes related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.95 CYP11A1 CYP17A1 CYP21A2 DECR1 FDX1 FDXR
2 lipid metabolic process GO:0006629 9.88 CYP11A1 DECR1 FDX1 FDXR SGPL1
3 steroid metabolic process GO:0008202 9.72 CYP11A1 CYP17A1 CYP21A2 FDX1 FDXR
4 cholesterol metabolic process GO:0008203 9.65 CYP11A1 FDX1 FDXR LEPR STAR
5 regulation of neuronal synaptic plasticity GO:0048168 9.54 STAR SYP
6 glucocorticoid biosynthetic process GO:0006704 9.54 CYP11A1 CYP17A1 CYP21A2
7 energy reserve metabolic process GO:0006112 9.52 LEPR MC4R
8 hormone biosynthetic process GO:0042446 9.51 CYP17A1 FDX1
9 regulation of feeding behavior GO:0060259 9.49 LEPR MC4R
10 response to leptin GO:0044321 9.46 LEPR STAR
11 C21-steroid hormone biosynthetic process GO:0006700 9.46 CYP11A1 FDX1 FDXR STAR
12 positive regulation of apoptotic cell clearance GO:2000427 9.43 C4A C4B
13 sterol metabolic process GO:0016125 9.26 CYP11A1 CYP21A2 FDX1 FDXR
14 steroid biosynthetic process GO:0006694 9.1 CYP11A1 CYP17A1 CYP21A2 FDX1 FDXR STAR

Molecular functions related to Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.43 CYP11A1 CYP17A1 CYP21A2
2 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.33 CYP11A1 CYP17A1 CYP21A2
3 carboxy-lyase activity GO:0016831 9.32 SGPL1 UROD
4 iron ion binding GO:0005506 9.26 CYP11A1 CYP17A1 CYP21A2 FDX1
5 oxidoreductase activity GO:0016491 9.1 CYP11A1 CYP17A1 CYP21A2 DECR1 FDXR NNT
Sources

Sources for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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