MCID: ADR049
MIFTS: 47

Adrenal Hypoplasia, Congenital

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Adrenal Hypoplasia, Congenital

MalaCards integrated aliases for Adrenal Hypoplasia, Congenital:

Name: Adrenal Hypoplasia, Congenital 57 75 55 40
X-Linked Adrenal Hypoplasia Congenita 12 76 53 25 15 73
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism 57 75 13
Adrenal Hypoplasia Congenita 53 25 37
Ahc with Isolated Gonadotropin Deficiency 57 75
Congenital Adrenal Hypoplasia, X-Linked 29 6
Cytomegalic Adrenocortical Hypoplasia 57 75
Congenital Adrenal Hypoplasia 12 53
Ahc with Hhg 57 75
X-Linked Ahc 53 25
Ahch 57 75
Ahc 57 75
Ahx 57 75
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism; Ahch 57
X-Linked Congenital Adrenal Hypoplasia 53
X-Linked Adrenal Hypoplasia Congenital 75
Congenital Hypoplasia of Adrenal Gland 73
Addison Disease, X-Linked; Ahx 57
Addison Disease, X-Linked 57
X-Linked Addison Disease 75

Characteristics:

OMIM:

57
Miscellaneous:
clinical variability
autosomal recessive form
onset usually within first weeks of life
later onset may occur (1 to 11 years)
transient recovery of adrenal function may occur in childhood
poor gonadotropin response to gonadotropin releasing hormone (gnrh)
may be seen in combination with duchenne muscular dystrophy (dmd, ) and/or glycerol kinase deficiency as part of a contiguous gene deletion syndrome

Inheritance:
x-linked recessive


HPO:

32
adrenal hypoplasia, congenital:
Inheritance autosomal recessive inheritance x-linked recessive inheritance


Classifications:



Summaries for Adrenal Hypoplasia, Congenital

OMIM : 57 Congenital adrenal hypoplasia (AHC) is a rare disorder that can be inherited in an X-linked or autosomal recessive (see 240200) pattern. In X-linked AHC, primary adrenocortical failure occurs because the adrenal glands lack the permanent adult cortical zone. The remaining cells are termed 'cytomegalic' because they are larger than typical fetal adrenal cells (Hay et al., 1981; Reutens et al., 1999). Patients with AHC usually present in early infancy with primary adrenal failure. Hypogonadotropic hypogonadism (HHG) is a hallmark of the disorder, and is recognized during adolescence because of the absence or interruption of normal pubertal development. Abnormal spermatogenesis has also been observed in these patients. Milder forms of the disease have been described, with adrenal insufficiency sometimes occurring in childhood or even early adulthood. A few cases of partial HHG have been reported (summary by Raffin-Sanson et al., 2013). Transient precocious sexual development in infancy or early childhood can be a prominent feature of AHC (Landau et al., 2010). A contiguous gene syndrome involving a combination of congenital adrenal hypoplasia, glycerol kinase deficiency (307030), and Duchenne muscular dystrophy (DMD; 310200) is caused by deletion of multiple genes on chromosome Xp21 (see 300679). (300200)

MalaCards based summary : Adrenal Hypoplasia, Congenital, also known as x-linked adrenal hypoplasia congenita, is related to intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies and alternating hemiplegia of childhood. An important gene associated with Adrenal Hypoplasia, Congenital is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1), and among its related pathways/superpathways is Nuclear Receptor transcription pathway. Affiliated tissues include adrenal gland, cortex and kidney, and related phenotypes are azoospermia and cryptorchidism

Disease Ontology : 12 An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has material basis in the nuclear receptor NR0B1 (DAX1) gene.

Genetics Home Reference : 25 X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body.

NIH Rare Diseases : 53 X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency, which may be life threatening, and hypogonadotropic hypogonadism. Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene. It is inherited in an X-linked recessive pattern.

UniProtKB/Swiss-Prot : 75 Adrenal hypoplasia, congenital: A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern.

Wikipedia : 76 X-linked adrenal hypoplasia congenita is a genetic disorder that mainly affects males. It involves many... more...

Related Diseases for Adrenal Hypoplasia, Congenital

Diseases related to Adrenal Hypoplasia, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 34.5 GK NR0B1
2 alternating hemiplegia of childhood 32.8 GK NR0B1 NR5A1
3 chromosome xp21 deletion syndrome 30.0 DMD GK IL1RAPL1 NR0B1
4 hypoadrenocorticism, familial 29.9 NR0B1 STAR
5 intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 12.5
6 nr0b1-related adrenal hypoplasia congenita 12.1
7 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone 12.0
8 cytomegalic congenital adrenal hypoplasia 11.3
9 hypogonadism 10.6
10 hypogonadotropism 10.6
11 hypogonadotropic hypogonadism 10.5
12 precocious puberty 10.4
13 acute hemorrhagic conjunctivitis 10.3
14 conjunctivitis 10.3
15 46,xy partial gonadal dysgenesis 10.2 NR0B1 NR5A1
16 central precocious puberty 10.2
17 46,xx sex reversal 1 10.2 NR0B1 NR5A1
18 insulinoma 10.1
19 adenoma 10.1
20 growth hormone deficiency 10.1
21 familial glucocorticoid deficiency 10.0 NR0B1 STAR
22 hemiplegia 10.0
23 amyloidosis 10.0
24 gonadal disease 10.0 NR0B1 NR5A1
25 thyroid cancer 9.9
26 thyroiditis 9.9
27 gonadal dysgenesis 9.9 NR0B1 NR5A1
28 dermatitis 9.9
29 leydig cell tumor 9.8 NR5A1 STAR
30 muscular dystrophy, becker type 9.7 DMD GK
31 46,xy sex reversal 2 9.7
32 muscular dystrophy 9.7
33 x-linked non-specific intellectual disability 9.7 DMD IL1RAPL1
34 aland island eye disease 9.7 DMD GK
35 46 xy gonadal dysgenesis 9.5 NR0B1 NR5A1 STAR
36 adrenal carcinoma 9.5 NR0B1 NR5A1 STAR
37 adrenocortical carcinoma, hereditary 9.5 NR0B1 NR5A1 STAR
38 lipoid congenital adrenal hyperplasia 9.5 NR5A1 STAR
39 adrenal cortical hypofunction 9.2 GK IL1RAPL1 NR0B1 NR5A1
40 premature ovarian failure 1 9.2 NR5A1 STAR
41 glycerol kinase deficiency 8.9 DMD GK IL1RAPL1 NR0B1

Graphical network of the top 20 diseases related to Adrenal Hypoplasia, Congenital:



Diseases related to Adrenal Hypoplasia, Congenital

Symptoms & Phenotypes for Adrenal Hypoplasia, Congenital

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
precocious puberty
delayed puberty
adrenal insufficiency
absence of pubertal development
hypoplastic adrenal glands
more
Metabolic Features:
dehydration

Laboratory Abnormalities:
hyponatremia
decreased serum cortisol
decreased serum luteinizing hormone (lh)
decreased serum follicle-stimulating hormone (fsh)
decreased serum androgens
more
Genitourinary External Genitalia Male:
hypogonadotropic hypogonadism

Growth Other:
failure to thrive

GenitourinaryInternal GenitaliaMale:
cryptorchidism
azoospermia
oligospermia

Skin Nails Hair Skin:
hyperpigmentation


Clinical features from OMIM:

300200

Human phenotypes related to Adrenal Hypoplasia, Congenital:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 azoospermia 32 HP:0000027
2 cryptorchidism 32 HP:0000028
3 hypogonadotrophic hypogonadism 32 HP:0000044
4 renal salt wasting 32 HP:0000127
5 oligospermia 32 HP:0000798
6 delayed puberty 32 HP:0000823
7 precocious puberty 32 HP:0000826
8 adrenal hypoplasia 32 HP:0000835
9 hyperpigmentation of the skin 32 HP:0000953
10 failure to thrive 32 HP:0001508
11 dehydration 32 HP:0001944
12 hyponatremia 32 HP:0002902
13 muscular dystrophy 32 HP:0003560
14 decreased circulating aldosterone level 32 HP:0004319
15 decreased circulating cortisol level 32 HP:0008163
16 absence of pubertal development 32 HP:0008197

Drugs & Therapeutics for Adrenal Hypoplasia, Congenital

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Gene Polymorphisms Influencing Steroid Synthesis and Action Withdrawn NCT00485186

Search NIH Clinical Center for Adrenal Hypoplasia, Congenital

Genetic Tests for Adrenal Hypoplasia, Congenital

Genetic tests related to Adrenal Hypoplasia, Congenital:

# Genetic test Affiliating Genes
1 Congenital Adrenal Hypoplasia, X-Linked 29 NR0B1

Anatomical Context for Adrenal Hypoplasia, Congenital

MalaCards organs/tissues related to Adrenal Hypoplasia, Congenital:

41
Adrenal Gland, Cortex, Kidney, Adrenal Cortex, Skin, Pituitary, Hypothalamus

Publications for Adrenal Hypoplasia, Congenital

Articles related to Adrenal Hypoplasia, Congenital:

(show top 50) (show all 54)
# Title Authors Year
1
X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and inA vitro study of a novel small indel in the NR0B1 gene. ( 27035099 )
2016
2
X-linked Adrenal Hypoplasia Congenita Due to NR0B1 (DAX1) Deficiency Presenting as Severe Respiratory Distress in Near Term Infants. ( 27026067 )
2016
3
X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes. ( 27656210 )
2016
4
X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation. ( 25993682 )
2015
5
Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. ( 25968435 )
2015
6
Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita. ( 27110597 )
2015
7
Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1. ( 26030781 )
2015
8
Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita. ( 26448365 )
2015
9
Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1. ( 25003377 )
2014
10
Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report. ( 25731006 )
2014
11
MicroRNA-561 promotes acetaminophen-induced hepatotoxicity in HepG2 cells and primary human hepatocytes through downregulation of the nuclear receptor corepressor dosage-sensitive sex-reversal adrenal hypoplasia congenital critical region on the X chromosome, gene 1 (DAX-1). ( 24104199 )
2014
12
X-linked adrenal hypoplasia congenita: a case report and ethical dilemma. ( 24641931 )
2014
13
Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family. ( 23512386 )
2013
14
Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome. ( 24904859 )
2013
15
X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa. ( 21739173 )
2012
16
Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita. ( 21632081 )
2011
17
Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation. ( 20975255 )
2011
18
Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis. ( 21270512 )
2011
19
[Clinical features of 9 patients with X-linked adrenal hypoplasia congenita caused by DAX1/NR0B1 gene mutations]. ( 21029627 )
2010
20
A case of X-linked adrenal hypoplasia congenita, central precocious puberty and absence of the DAX-1 gene: implications for pubertal regulation. ( 19339795 )
2009
21
X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene. ( 19129717 )
2009
22
A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis. ( 19672728 )
2009
23
A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita. ( 18604556 )
2009
24
Clinical and genetic analysis of a Korean patient with late-onset X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: identification of a novel mutation in the NR0B1 gene. ( 18380948 )
2008
25
Seminiferous tubule function in delayed-onset X-linked adrenal hypoplasia congenita associated with incomplete hypogonadotrophic hypogonadism. ( 17803711 )
2008
26
[Identification of a novel missense mutation of the DAX-1 gene in a Chinese pedigree with X-linked adrenal hypoplasia congenita]. ( 18339285 )
2007
27
X-linked adrenal hypoplasia congenita: testicular histology before puberty. ( 17587282 )
2007
28
A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita. ( 17308433 )
2007
29
DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients. ( 16645015 )
2006
30
X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: report on new mutation of the DAX-1 gene in two siblings. ( 16553032 )
2006
31
Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene. ( 16061826 )
2005
32
Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita. ( 16355812 )
2005
33
Identification of novel mutations of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. ( 15860922 )
2005
34
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. ( 12519885 )
2003
35
X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. ( 12034880 )
2002
36
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. ( 11788621 )
2002
37
Adrenocorticotropin-dependent precocious puberty of testicular origin in a boy with X-linked adrenal hypoplasia congenita due to a novel mutation in the DAX1 gene. ( 11549627 )
2001
38
Variable presentation of X-linked adrenal hypoplasia congenita. ( 11592565 )
2001
39
Prolonged activation of the hypothalamus-pituitary-gonadal axis in a child with X-linked adrenal hypoplasia congenita. ( 10931089 )
2000
40
An atypical kindred with X-linked adrenal hypoplasia congenita, normal puberty, and normal Dax-1 promoter and coding sequence. ( 10689635 )
2000
41
Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. ( 11113848 )
2000
42
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. ( 10599709 )
1999
43
A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. ( 10361383 )
1999
44
Novel DAX1 mutations in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. ( 10341858 )
1999
45
Novel mutation of the DAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. ( 9508067 )
1998
46
Active hypothalamic-pituitary-gonadal axis in an infant with X-linked adrenal hypoplasia congenita. ( 9063431 )
1997
47
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. ( 9360549 )
1997
48
Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. ( 8675564 )
1996
49
Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. ( 8855822 )
1996
50
Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. ( 7609262 )
1995

Variations for Adrenal Hypoplasia, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Adrenal Hypoplasia, Congenital:

75 (show all 18)
# Symbol AA change Variation ID SNP ID
1 NR0B1 p.Arg267Pro VAR_004738 rs104894888
2 NR0B1 p.Val287Gly VAR_004740
3 NR0B1 p.Ala300Val VAR_004741
4 NR0B1 p.Glu377Lys VAR_004742
5 NR0B1 p.Lys382Asn VAR_004743 rs104894896
6 NR0B1 p.Val385Gly VAR_004744
7 NR0B1 p.Arg425Gly VAR_004745
8 NR0B1 p.Asn440Ile VAR_004746 rs28935481
9 NR0B1 p.Tyr380Asp VAR_018300 rs104894900
10 NR0B1 p.Leu381His VAR_018301 rs104894899
11 NR0B1 p.Ile439Ser VAR_018302 rs104894897
12 NR0B1 p.Leu295Pro VAR_018303
13 NR0B1 p.Ala300Pro VAR_018304
14 NR0B1 p.Arg425Thr VAR_018305
15 NR0B1 p.Leu466Arg VAR_018306
16 NR0B1 p.Leu278Pro VAR_031079
17 NR0B1 p.Trp291Cys VAR_031080 rs28935482
18 NR0B1 p.Leu297Pro VAR_031081 rs104894907

ClinVar genetic disease variations for Adrenal Hypoplasia, Congenital:

6
(show top 50) (show all 129)
# Gene Variation Type Significance SNP ID Assembly Location
1 NR0B1 NM_000475.4(NR0B1): c.847C> T (p.Gln283Ter) single nucleotide variant Pathogenic rs104894890 GRCh37 Chromosome X, 30326634: 30326634
2 NR0B1 NM_000475.4(NR0B1): c.847C> T (p.Gln283Ter) single nucleotide variant Pathogenic rs104894890 GRCh38 Chromosome X, 30308517: 30308517
3 NR0B1 NM_000475.4(NR0B1): c.1107G> A (p.Trp369Ter) single nucleotide variant Pathogenic rs104894886 GRCh37 Chromosome X, 30326374: 30326374
4 NR0B1 NM_000475.4(NR0B1): c.1107G> A (p.Trp369Ter) single nucleotide variant Pathogenic rs104894886 GRCh38 Chromosome X, 30308257: 30308257
5 NR0B1 NM_000475.4(NR0B1): c.788T> A (p.Leu263Ter) single nucleotide variant Pathogenic rs104894887 GRCh37 Chromosome X, 30326693: 30326693
6 NR0B1 NM_000475.4(NR0B1): c.788T> A (p.Leu263Ter) single nucleotide variant Pathogenic rs104894887 GRCh38 Chromosome X, 30308576: 30308576
7 NR0B1 NM_000475.4(NR0B1): c.800G> C (p.Arg267Pro) single nucleotide variant Pathogenic rs104894888 GRCh37 Chromosome X, 30326681: 30326681
8 NR0B1 NM_000475.4(NR0B1): c.800G> C (p.Arg267Pro) single nucleotide variant Pathogenic rs104894888 GRCh38 Chromosome X, 30308564: 30308564
9 NR0B1 NM_000475.4(NR0B1): c.704G> A (p.Trp235Ter) single nucleotide variant Pathogenic rs104894889 GRCh37 Chromosome X, 30326777: 30326777
10 NR0B1 NM_000475.4(NR0B1): c.704G> A (p.Trp235Ter) single nucleotide variant Pathogenic rs104894889 GRCh38 Chromosome X, 30308660: 30308660
11 NR0B1 NM_000475.4(NR0B1): c.513G> A (p.Trp171Ter) single nucleotide variant Pathogenic rs104894891 GRCh37 Chromosome X, 30326968: 30326968
12 NR0B1 NM_000475.4(NR0B1): c.513G> A (p.Trp171Ter) single nucleotide variant Pathogenic rs104894891 GRCh38 Chromosome X, 30308851: 30308851
13 NR0B1 NR0B1, 1-BP DEL deletion Pathogenic
14 NR0B1 NM_000475.4(NR0B1): c.273C> A (p.Tyr91Ter) single nucleotide variant Pathogenic rs104894892 GRCh37 Chromosome X, 30327208: 30327208
15 NR0B1 NM_000475.4(NR0B1): c.273C> A (p.Tyr91Ter) single nucleotide variant Pathogenic rs104894892 GRCh38 Chromosome X, 30309091: 30309091
16 NR0B1 NM_000475.4(NR0B1): c.1319A> T (p.Asn440Ile) single nucleotide variant Pathogenic rs28935481 GRCh37 Chromosome X, 30322790: 30322790
17 NR0B1 NM_000475.4(NR0B1): c.1319A> T (p.Asn440Ile) single nucleotide variant Pathogenic rs28935481 GRCh38 Chromosome X, 30304673: 30304673
18 NR0B1 NM_000475.4(NR0B1): c.1183C> T (p.Gln395Ter) single nucleotide variant Pathogenic rs104894894 GRCh37 Chromosome X, 30322926: 30322926
19 NR0B1 NM_000475.4(NR0B1): c.1183C> T (p.Gln395Ter) single nucleotide variant Pathogenic rs104894894 GRCh38 Chromosome X, 30304809: 30304809
20 NR0B1 NM_000475.4(NR0B1): c.813C> G (p.Tyr271Ter) single nucleotide variant Pathogenic rs104894895 GRCh37 Chromosome X, 30326668: 30326668
21 NR0B1 NM_000475.4(NR0B1): c.813C> G (p.Tyr271Ter) single nucleotide variant Pathogenic rs104894895 GRCh38 Chromosome X, 30308551: 30308551
22 NR0B1 NR0B1, 2-BP DEL, 1610AG, AND 1-BP INS indel Pathogenic
23 NR0B1 NR0B1, 1-BP DEL, 1169C deletion Pathogenic
24 NR0B1 NR0B1, 2-BP DEL, 388AG deletion Pathogenic
25 NR0B1 NM_000475.4(NR0B1): c.1146G> T (p.Lys382Asn) single nucleotide variant Pathogenic rs104894896 GRCh37 Chromosome X, 30326335: 30326335
26 NR0B1 NM_000475.4(NR0B1): c.1146G> T (p.Lys382Asn) single nucleotide variant Pathogenic rs104894896 GRCh38 Chromosome X, 30308218: 30308218
27 NR0B1 NM_000475.4(NR0B1): c.873G> C (p.Trp291Cys) single nucleotide variant Pathogenic rs28935482 GRCh37 Chromosome X, 30326608: 30326608
28 NR0B1 NM_000475.4(NR0B1): c.873G> C (p.Trp291Cys) single nucleotide variant Pathogenic rs28935482 GRCh38 Chromosome X, 30308491: 30308491
29 NR0B1 NR0B1, DEL deletion Pathogenic
30 NR0B1 NR0B1, 4-BP DEL, NT1464 deletion Pathogenic
31 NR0B1 NM_000475.4(NR0B1): c.591C> A (p.Tyr197Ter) single nucleotide variant Pathogenic rs104894898 GRCh37 Chromosome X, 30326890: 30326890
32 NR0B1 NM_000475.4(NR0B1): c.591C> A (p.Tyr197Ter) single nucleotide variant Pathogenic rs104894898 GRCh38 Chromosome X, 30308773: 30308773
33 NR0B1 NM_000475.4(NR0B1): c.1316T> G (p.Ile439Ser) single nucleotide variant Pathogenic rs104894897 GRCh37 Chromosome X, 30322793: 30322793
34 NR0B1 NM_000475.4(NR0B1): c.1316T> G (p.Ile439Ser) single nucleotide variant Pathogenic rs104894897 GRCh38 Chromosome X, 30304676: 30304676
35 NR0B1 NR0B1, 1-BP DEL, 501A deletion Pathogenic
36 NR0B1 NM_000475.4(NR0B1): c.1142T> A (p.Leu381His) single nucleotide variant Pathogenic rs104894899 GRCh37 Chromosome X, 30326339: 30326339
37 NR0B1 NM_000475.4(NR0B1): c.1142T> A (p.Leu381His) single nucleotide variant Pathogenic rs104894899 GRCh38 Chromosome X, 30308222: 30308222
38 NR0B1 NR0B1, 1-BP INS, 430G insertion Pathogenic
39 NR0B1 NM_000475.4(NR0B1): c.1138T> G (p.Tyr380Asp) single nucleotide variant Pathogenic rs104894900 GRCh37 Chromosome X, 30326343: 30326343
40 NR0B1 NM_000475.4(NR0B1): c.1138T> G (p.Tyr380Asp) single nucleotide variant Pathogenic rs104894900 GRCh38 Chromosome X, 30308226: 30308226
41 NR0B1 NR0B1, 2.2-KB DEL/27-BP INS indel Pathogenic
42 NR0B1 NM_000475.4(NR0B1): c.1197C> A (p.Tyr399Ter) single nucleotide variant Pathogenic rs104894906 GRCh37 Chromosome X, 30322912: 30322912
43 NR0B1 NM_000475.4(NR0B1): c.1197C> A (p.Tyr399Ter) single nucleotide variant Pathogenic rs104894906 GRCh38 Chromosome X, 30304795: 30304795
44 NR0B1 NM_000475.4(NR0B1): c.890T> C (p.Leu297Pro) single nucleotide variant Pathogenic rs104894907 GRCh37 Chromosome X, 30326591: 30326591
45 NR0B1 NM_000475.4(NR0B1): c.890T> C (p.Leu297Pro) single nucleotide variant Pathogenic rs104894907 GRCh38 Chromosome X, 30308474: 30308474
46 NR0B1 NM_000475.4(NR0B1): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs104894908 GRCh37 Chromosome X, 30327372: 30327372
47 NR0B1 NM_000475.4(NR0B1): c.109C> T (p.Gln37Ter) single nucleotide variant Pathogenic rs104894908 GRCh38 Chromosome X, 30309255: 30309255
48 NR0B1 NM_000475.4(NR0B1): c.1094T> C (p.Leu365Pro) single nucleotide variant Likely pathogenic rs386134262 GRCh37 Chromosome X, 30326387: 30326387
49 NR0B1 NM_000475.4(NR0B1): c.1094T> C (p.Leu365Pro) single nucleotide variant Likely pathogenic rs386134262 GRCh38 Chromosome X, 30308270: 30308270
50 NR0B1 NM_000475.4(NR0B1): c.1141C> T (p.Leu381Phe) single nucleotide variant Pathogenic/Likely pathogenic rs386134263 GRCh37 Chromosome X, 30326340: 30326340

Expression for Adrenal Hypoplasia, Congenital

Search GEO for disease gene expression data for Adrenal Hypoplasia, Congenital.

Pathways for Adrenal Hypoplasia, Congenital

Pathways related to Adrenal Hypoplasia, Congenital according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.75 ESRRB NR0B1 NR5A1

GO Terms for Adrenal Hypoplasia, Congenital

Biological processes related to Adrenal Hypoplasia, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.54 ESRRB NR0B1 NR5A1
2 male gonad development GO:0008584 9.5 NR0B1 NR5A1 STAR
3 steroid biosynthetic process GO:0006694 9.43 NR0B1 STAR
4 adrenal gland development GO:0030325 9.4 NR0B1 NR5A1
5 regulation of steroid biosynthetic process GO:0050810 9.26 NR5A1 STAR
6 sex determination GO:0007530 9.16 NR0B1 NR5A1
7 steroid hormone mediated signaling pathway GO:0043401 9.13 ESRRB NR0B1 NR5A1
8 intracellular receptor signaling pathway GO:0030522 8.8 ESRRB NR0B1 NR5A1

Molecular functions related to Adrenal Hypoplasia, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.26 ESRRB NR5A1
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.16 ESRRB NR5A1
3 steroid hormone receptor activity GO:0003707 9.13 ESRRB NR0B1 NR5A1
4 nuclear receptor activity GO:0004879 8.8 ESRRB NR0B1 NR5A1

Sources for Adrenal Hypoplasia, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
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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