AICSR
MCID: ADR056
MIFTS: 58

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

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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 57 12 29 6 40 73
Congenital Adrenal Insufficiency 12 6 15
P450scc Deficiency 57 12 75
Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 57 13
Adrenogenital Syndrome 44 73
46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency 59
Adrenal Insufficiency Congenital with 46,xy Sex Reversal Partial or Complete 75
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal 75
Adrenal Insufficiency, Congenital 73
Xy Sex Reversal-Adrenal Failure 59
Congenital Adrenal Hyperplasia 73
Aicsr 75

Characteristics:

Orphanet epidemiological data:

59
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:



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

OMIM : 57 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 adrenal cortical adenoma and conn's syndrome. 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, skin and bone, 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 : 75 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.

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

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 61)
# Related Disease Score Top Affiliating Genes
1 adrenal cortical adenoma 29.9 CYP11A1 CYP17A1 CYP21A2 POMC SYP
2 conn's syndrome 29.8 CYP11A1 CYP17A1 CYP21A2 POMC
3 lipoid congenital adrenal hyperplasia 29.5 C4A CYP11A1 CYP17A1 CYP21A2 POMC STAR
4 adrenocortical carcinoma, hereditary 29.4 CYP11A1 CYP17A1 CYP21A2 INHA POMC STAR
5 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.2
6 luteoma 10.2 CYP21A2 STAR
7 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.2 CYP21A2 POMC
8 pseudohermaphroditism 10.2
9 ovarian small cell carcinoma 10.2 INHA SYP
10 acute adrenal insufficiency 10.2 CYP11A1 CYP21A2 POMC
11 gangliocytoma 10.2 POMC SYP
12 adrenal cortical hypofunction 10.2 CYP11A1 CYP21A2 POMC
13 premature ovarian failure 1 10.2 CYP11A1 INHA STAR
14 pancreatic endocrine carcinoma 10.1 POMC SYP
15 familial glucocorticoid deficiency 10.1 NNT POMC STAR
16 sella turcica neoplasm 10.1 POMC SYP
17 pituitary-dependent cushing's disease 10.1 CYP21A2 NNT POMC
18 transsexualism 10.1 CYP17A1 CYP21A2
19 tuberculum sellae meningioma 10.1 POMC SYP
20 achalasia-addisonianism-alacrima syndrome 10.1 AAAS NNT POMC
21 olfactory nerve neoplasm 10.1 POMC SYP
22 male reproductive organ benign neoplasm 10.1 POMC SYP
23 sertoli cell tumor 10.1 INHA SYP
24 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 10.1 CYP11A1 CYP17A1 CYP21A2
25 sex cord-gonadal stromal tumor 10.1 INHA POMC SYP
26 cholesterol ester storage disease 10.1 CYP11A1 STAR
27 hypoadrenocorticism, familial 10.1 CYP11A1 CYP21A2 POMC STAR
28 mucinoses 10.1 C4A POMC
29 cytochrome p450 oxidoreductase deficiency 10.1 CYP17A1 CYP21A2 POMC
30 sex differentiation disease 10.1 CYP17A1 CYP21A2 POMC
31 hyperandrogenism 10.1 CYP17A1 CYP21A2 POMC
32 abducens nerve disease 10.1 POMC SYP
33 seminoma 10.0
34 adenoma 10.0
35 leydig cell tumor 10.0 CYP11A1 CYP17A1 CYP21A2 STAR
36 adrenal rest tumor 10.0 CYP21A2 NNT POMC SYP
37 polycystic ovary syndrome 10.0 CYP11A1 CYP17A1 CYP21A2 STAR
38 adrenal adenoma 10.0 CYP11A1 CYP17A1 CYP21A2 POMC
39 eating disorder 10.0 LEPR MC4R POMC
40 overnutrition 10.0 LEPR MC4R POMC
41 acquired metabolic disease 10.0 LEPR MC4R POMC
42 cervix small cell carcinoma 9.9 POMC SYP
43 anorexia nervosa 9.9 LEPR MC4R POMC
44 testicular leydig cell tumor 9.9 CYP11A1 CYP17A1 CYP21A2 POMC STAR
45 steroid inherited metabolic disorder 9.9 CYP11A1 CYP17A1 CYP21A2 POMC STAR
46 acanthosis nigricans 9.9
47 hyperlipoproteinemia, type iv 9.9
48 systemic lupus erythematosus 9.9
49 cryptorchidism, unilateral or bilateral 9.9
50 hyperprolactinemia 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

Symptoms & Phenotypes for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

Clinical features from OMIM:

613743

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

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 agenesis of corpus callosum 59 32 hallmark (90%) Very frequent (99-80%) HP:0001274
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 hypotension 59 32 hallmark (90%) Very frequent (99-80%) HP:0002615
4 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
5 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
6 dehydration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001944
7 vomiting 59 32 hallmark (90%) Very frequent (99-80%) HP:0002013
8 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
9 feeding difficulties 59 32 hallmark (90%) Very frequent (99-80%) HP:0011968
10 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
11 absence of secondary sex characteristics 59 32 hallmark (90%) Very frequent (99-80%) HP:0008187
12 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
13 decreased fertility 59 32 hallmark (90%) Very frequent (99-80%) HP:0000144
14 hyponatremia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002902
15 gynecomastia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000771
16 male pseudohermaphroditism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000037
17 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
18 neonatal hypoglycemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001998
19 ambiguous genitalia, male 59 32 hallmark (90%) Very frequent (99-80%) HP:0000033
20 urogenital sinus anomaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100779
21 renal salt wasting 59 32 hallmark (90%) Very frequent (99-80%) HP:0000127
22 aplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000151
23 adrenal hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0000835
24 increased circulating renin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0000848
25 acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001941
26 hyperkalemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002153
27 decreased circulating aldosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0004319
28 abnormality of cholesterol metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0003107
29 increased circulating acth level 59 32 hallmark (90%) Very frequent (99-80%) HP:0003154
30 hypernatriuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0012605
31 generalized bronze hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007574
32 low maternal serum estriol 59 32 hallmark (90%) Very frequent (99-80%) HP:0008073
33 decreased circulating cortisol level 59 32 hallmark (90%) Very frequent (99-80%) HP:0008163
34 female external genitalia in individual with 46,xy karyotype 59 32 hallmark (90%) Very frequent (99-80%) HP:0008730
35 abnormality of the leydig cells 59 32 hallmark (90%) Very frequent (99-80%) HP:0010789
36 hypovolemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011106
37 adrenocorticotropic hormone excess 59 32 hallmark (90%) Very frequent (99-80%) HP:0011749
38 sex reversal 59 32 hallmark (90%) Very frequent (99-80%) HP:0012245
39 abnormal urine potassium concentration 59 32 hallmark (90%) Very frequent (99-80%) HP:0012598
40 midshaft hypospadias 59 32 occasional (7.5%) Occasional (29-5%) HP:0012854
41 decreased circulating androgen level 59 32 hallmark (90%) Very frequent (99-80%) HP:0030349
42 induced vaginal delivery 59 32 hallmark (90%) Very frequent (99-80%) HP:0030369
43 reduced bone mineral density 59 Very frequent (99-80%)
44 primary adrenal insufficiency 59 Very frequent (99-80%)
45 hyperaldosteronism 32 HP:0000859
46 abnormality of the vagina 59 Occasional (29-5%)
47 generalized hyperpigmentation 59 Very frequent (99-80%)
48 clitoromegaly 59 Occasional (29-5%)
49 abnormality of prenatal development or birth 59 Very frequent (99-80%)
50 elevated follicle stimulating hormone 59 Frequent (79-30%)

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

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.25 CYP11A1 CYP17A1 CYP21A2 UROD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.25 CYP21A2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.25 CYP11A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.25 CYP11A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.25 UROD
6 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.25 CYP11A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.25 UROD
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.25 CYP21A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.25 CYP11A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.25 CYP17A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.25 CYP21A2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.25 CYP11A1 CYP17A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.25 CYP21A2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.25 UROD
15 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.25 UROD
16 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.25 CYP11A1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.25 CYP21A2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.25 UROD
19 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.25 CYP17A1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.25 CYP21A2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.25 UROD
22 Increased transferrin (TF) endocytosis GR00363-A 9.7 CYP11A1 CYP21A2 DECR1 FDXR INHA MC4R
23 Reduced mammosphere formation GR00396-S 9.1 C4A CYP21A2 MC4R POMC STAR UROD

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 AAAS CYP11A1 CYP17A1 DECR1 FDXR LEPR
2 homeostasis/metabolism MP:0005376 9.9 AAAS CYP11A1 CYP17A1 DECR1 INHA LEPR
3 liver/biliary system MP:0005370 9.5 CYP11A1 DECR1 INHA LEPR MC4R POMC
4 reproductive system MP:0005389 9.23 AAAS CYP11A1 CYP17A1 INHA LEPR MC4R

Drugs & Therapeutics for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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

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 29 CYP11A1

Anatomical Context for Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal,...

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

41
Adrenal Gland, Skin, Bone, Uterus, Ovary, Pituitary, Cervix

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

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

# 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
Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans. ( 12161514 )
2002
6
Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels. ( 2846958 )
1988

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

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

75
# 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

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

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

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

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 AAAS CYP11A1 CYP17A1 CYP21A2 DECR1 FDX1
2
Show member pathways
12.96 CYP11A1 CYP17A1 CYP21A2 FDX1 FDXR POMC
3
Show member pathways
12.5 CYP11A1 CYP17A1 CYP21A2 POMC STAR
4
Show member pathways
12.06 CYP11A1 CYP17A1 CYP21A2 POMC STAR
5 11.43 CYP11A1 CYP21A2 POMC STAR
6
Show member pathways
11.4 CYP11A1 CYP17A1 CYP21A2
7 11.23 CYP11A1 CYP17A1 STAR
8
Show member pathways
11.23 CYP11A1 FDX1 FDXR POMC
9
Show member pathways
11.11 CYP11A1 CYP17A1 CYP21A2 FDX1 FDXR POMC
10
Show member pathways
11 LEPR POMC
11
Show member pathways
10.83 CYP17A1 CYP21A2
12 10.73 MC4R POMC
13 10.41 FDX1 FDXR

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

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 neuronal cell body GO:0043025 9.26 C4A CYP17A1 INHA STAR
2 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 13)
# 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 9.83 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 glucocorticoid biosynthetic process GO:0006704 9.54 CYP11A1 CYP17A1 CYP21A2
6 regulation of neuronal synaptic plasticity GO:0048168 9.52 STAR SYP
7 energy reserve metabolic process GO:0006112 9.51 LEPR MC4R
8 hormone biosynthetic process GO:0042446 9.49 CYP17A1 FDX1
9 regulation of feeding behavior GO:0060259 9.48 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 sterol metabolic process GO:0016125 9.35 CYP11A1 CYP17A1 CYP21A2 FDX1 FDXR
13 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 lyase activity GO:0016829 9.54 CYP17A1 SGPL1 UROD
2 heme binding GO:0020037 9.43 CYP11A1 CYP17A1 CYP21A2
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.33 CYP11A1 CYP17A1 CYP21A2
4 carboxy-lyase activity GO:0016831 9.32 SGPL1 UROD
5 iron ion binding GO:0005506 9.26 CYP11A1 CYP17A1 CYP21A2 FDX1
6 oxidoreductase activity GO:0016491 9.1 CYP11A1 CYP17A1 CYP21A2 DECR1 FDXR NNT

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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