AHC
MCID: ADR049
MIFTS: 54

Adrenal Hypoplasia, Congenital (AHC)

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

Aliases & Classifications for Adrenal Hypoplasia, Congenital

MalaCards integrated aliases for Adrenal Hypoplasia, Congenital:

Name: Adrenal Hypoplasia, Congenital 56 73 36 54 39
X-Linked Adrenal Hypoplasia Congenita 12 74 52 25 15 71
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism 56 73 13
Congenital Adrenal Hypoplasia 12 52 29
Ahc with Isolated Gonadotropin Deficiency 56 73
Congenital Adrenal Hypoplasia, X-Linked 29 6
Cytomegalic Adrenocortical Hypoplasia 56 73
Adrenal Hypoplasia Congenita 52 25
Ahc with Hhg 56 73
X-Linked Ahc 52 25
Ahch 56 73
Ahc 56 73
Ahx 56 73
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism; Ahch 56
X-Linked Congenital Adrenal Hypoplasia 52
X-Linked Adrenal Hypoplasia Congenital 73
Congenital Hypoplasia of Adrenal Gland 71
Addison Disease, X-Linked; Ahx 56
Addison Disease, X-Linked 56
X-Linked Addison Disease 73

Characteristics:

OMIM:

56
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:

31
adrenal hypoplasia, congenital:
Inheritance autosomal recessive inheritance x-linked recessive inheritance


Classifications:



Summaries for Adrenal Hypoplasia, Congenital

OMIM : 56 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 alternating hemiplegia of childhood and chromosome xp21 deletion syndrome. An important gene associated with Adrenal Hypoplasia, Congenital is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Corticotropin-releasing hormone signaling pathway. The drug Hepatitis C Antibodies has been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, adrenal cortex and cortex, and related phenotypes are delayed puberty and failure to thrive

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. One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications are often life-threatening. Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). Together, these characteristics are known as hypogonadotropic hypogonadism. The onset and severity of these signs and symptoms can vary, even among affected members of the same family.

NIH Rare Diseases : 52 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.

KEGG : 36 Adrenal hypoplasia congenital (AHC) is an inherited disorder of the adrenal cortex commonly manifested as an early onset adrenal insufficiency syndrome. AHC includes X-linked form, a rare autosomal recessive form [DS:H02316], and IMAGE syndrome [DS:H02319]. If untreated, adrenal insufficiency is rapidly lethal as a result of hyperkalemia, acidosis, hypoglycemia, and shock. A constant feature of the X-linked AHC is the association with hypogonadotropic hypogonadism (HHG). Affected males typically have delayed puberty or arrested puberty caused by HHG. Mutations in the DAX-1 (NR0B1) gene are responsible for X-linked AHC.

UniProtKB/Swiss-Prot : 73 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 : 74 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 top 50) (show all 173)
# Related Disease Score Top Affiliating Genes
1 alternating hemiplegia of childhood 34.1 NR5A1 NR0B1 GK
2 chromosome xp21 deletion syndrome 32.3 NR0B1 IL1RAPL1 GK DMD
3 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 32.2 SAMD9 NR5A1 NR0B1 MC2R GK
4 muscular dystrophy, duchenne type 30.9 NR0B1 GK DMD
5 nr0b1-related adrenal hypoplasia congenita 30.3 NR0B1 IL1RAPL1 GK DMD
6 precocious puberty, male-limited 29.9 GNRHR GNRH1
7 adrenal cortical hypofunction 29.9 STAR POMC NR5A1 NR0B1 MC2R
8 aland island eye disease 29.8 GK DMD
9 glycerol kinase deficiency 29.7 NR5A1 NR0B1 IL1RAPL1 GK DMD
10 familial glucocorticoid deficiency 29.5 STAR POMC NR5A1 NR0B1 MC2R HSD3B2
11 adrenal cortical carcinoma 29.4 POMC NR5A1 MC2R HSD3B2 EPPIN
12 pseudohermaphroditism 29.2 STAR POMC NR5A1 NR0B1 HSD3B2 EPPIN
13 lipoid congenital adrenal hyperplasia 29.1 STAR POMC NR5A1 NR0B1 MC2R HSD3B2
14 hypogonadism 28.9 NSMF NR0B1 GNRHR GNRH1
15 hypogonadotropic hypogonadism 28.6 NSMF NR5A1 NR0B1 GNRHR GNRH1
16 hypoadrenocorticism, familial 28.5 STAR POMC NR5A1 NR0B1 MC2R IL1RAPL1
17 kallmann syndrome 28.5 NSMF NR5A1 NR0B1 GNRHR GNRH1 ESRRB
18 46,xy sex reversal 2 28.5 WNT4 STAR NR5A1 NR0B1 MC2R HSD3B2
19 cryptorchidism, unilateral or bilateral 27.5 STAR POMC NSMF NR5A1 NR0B1 HSD3B2
20 disorders of sexual development 27.0 WNT4 STAR POMC NR5A1 NR0B1 HSD3B2
21 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 12.8
22 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone 12.3
23 conjunctivitis 10.7
24 acute hemorrhagic conjunctivitis 10.6
25 muscular dystrophy 10.5
26 precocious puberty 10.5
27 insulinoma 10.5
28 46,xy partial gonadal dysgenesis 10.4 NR5A1 NR0B1
29 azoospermia 10.4
30 hypoglycemia 10.4
31 central precocious puberty 10.4
32 hemiplegia 10.4
33 46,xx sex reversal 1 10.3 NR5A1 NR0B1
34 premature ovarian failure 7 10.3
35 growth hormone deficiency 10.3
36 hypoaldosteronism 10.3
37 acute adrenal insufficiency 10.3
38 ovarian sex-cord stromal tumor 10.3 NR5A1 EPPIN
39 atrophy of prostate 10.3 GNRH1 EPPIN
40 hypoglycemic coma 10.3 POMC EPPIN
41 premenstrual tension 10.3 POMC GNRH1
42 corticosterone methyloxidase type i deficiency 10.2 POMC NR5A1 NR0B1
43 waterhouse-friderichsen syndrome 10.2 POMC MC2R
44 gonadal dysgenesis 10.2 NR5A1 NR0B1 ESRRB
45 luteoma 10.2 GNRH1 EPPIN
46 hyperinsulinemic hypoglycemia 10.2
47 gastrinoma 10.2
48 thyroid carcinoma 10.2
49 hypothalamic disease 10.2 POMC GNRH1
50 ovarian benign neoplasm 10.2 GNRH1 EPPIN

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



Diseases related to Adrenal Hypoplasia, Congenital

Symptoms & Phenotypes for Adrenal Hypoplasia, Congenital

Human phenotypes related to Adrenal Hypoplasia, Congenital:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 delayed puberty 31 HP:0000823
2 failure to thrive 31 HP:0001508
3 dehydration 31 HP:0001944
4 cryptorchidism 31 HP:0000028
5 azoospermia 31 HP:0000027
6 hyponatremia 31 HP:0002902
7 precocious puberty 31 HP:0000826
8 muscular dystrophy 31 HP:0003560
9 adrenal hypoplasia 31 HP:0000835
10 oligospermia 31 HP:0000798
11 decreased circulating aldosterone level 31 HP:0004319
12 hyperpigmentation of the skin 31 HP:0000953
13 decreased circulating cortisol level 31 HP:0008163
14 absence of pubertal development 31 HP:0008197
15 renal salt wasting 31 HP:0000127
16 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
delayed puberty
precocious 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
Skin Nails Hair Skin:
hyperpigmentation

Growth Other:
failure to thrive

Genitourinary Internal Genitalia Male:
cryptorchidism
azoospermia
oligospermia

Genitourinary External Genitalia Male:
hypogonadotropic hypogonadism

Clinical features from OMIM:

300200

MGI Mouse Phenotypes related to Adrenal Hypoplasia, Congenital:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.65 DMD GNRH1 GNRHR MC2R NR0B1 NR5A1
2 reproductive system MP:0005389 9.28 DMD GK GNRH1 GNRHR NR0B1 NR5A1

Drugs & Therapeutics for Adrenal Hypoplasia, Congenital

Drugs for Adrenal Hypoplasia, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hepatitis C Antibodies

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rapid HCV RNA Testing and LInkage to Care Recruiting NCT04302948
2 Music:ED iMpact of therapeUtic Live muSic on Pain and Distress Levels During Interventions Within the paediatriC Emergency Department Recruiting NCT03956667

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
2 Congenital Adrenal Hypoplasia 29

Anatomical Context for Adrenal Hypoplasia, Congenital

MalaCards organs/tissues related to Adrenal Hypoplasia, Congenital:

40
Adrenal Gland, Adrenal Cortex, Cortex, Kidney, Pituitary, Testes, Skin

Publications for Adrenal Hypoplasia, Congenital

Articles related to Adrenal Hypoplasia, Congenital:

(show top 50) (show all 196)
# Title Authors PMID Year
1
Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1. 56 6 61 54
12213854 2002
2
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. 6 56 61
12519885 2003
3
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. 61 56 6
11788621 2002
4
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. 61 6 56
11549627 2001
5
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 56 6 61
10675358 2000
6
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 61 6 56
7990958 1994
7
A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up. 56 6
23384712 2013
8
X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis. 56 6
9003500 1997
9
X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family. 6 56
6891556 1982
10
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. 61 54 56
19508677 2010
11
An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency. 61 56
17164309 2007
12
Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. 6 54
12629128 2003
13
NR0B1-Related Adrenal Hypoplasia Congenita 6 61
20301604 2001
14
Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. 61 6
11113848 2000
15
Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. 6 61
10848616 2000
16
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. 61 6
10599709 1999
17
A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. 61 6
10361383 1999
18
DAX1 mutations map to putative structural domains in a deduced three-dimensional model. 56 61
9529340 1998
19
A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 6 61
9415399 1997
20
Three novel mutations and a de novo deletion mutation of the DAX-1 gene in patients with X-linked adrenal hypoplasia congenita. 6 61
9360549 1997
21
Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita. 61 6
8855822 1996
22
New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. 54 6
8636263 1996
23
A Novel Mutation of DAX-1 Associated with Secretory Azoospermia. 56
26207377 2015
24
Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene. 6
10522996 1999
25
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. 56
10022408 1999
26
Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia. 56
7615878 1995
27
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency. 56
1601004 1992
28
Adrenomyeloneuropathy presenting as Addison's disease in childhood. 56
2294415 1990
29
Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone. 56
3101337 1987
30
Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. 56
2856983 1985
31
Failure of adrenal androgen to induce puberty in familial cytomegalic adrenocortical hypoplasia. 56
6129550 1982
32
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. 56
6125810 1982
33
Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts. 56
6280107 1982
34
Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. 56
7197507 1981
35
Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. 56
6105176 1980
36
Congenital X-linked adrenal hypoplasia. 56
150559 1978
37
Pubertal failure in congenital adrenocortical hypoplasia. 56
72939 1977
38
Congenital adrenal hypoplasia and hypogonadotropic hypogonadism. 56
910763 1977
39
Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. 56
1113233 1975
40
[Congenital adrenal hypoplasia of cytomegalic type. Recessive, sex-linked form. Apropos of 3 cases]. 56
1217948 1975
41
Familial congenital absence of adrenal glands; evaluation of glucocorticoid, mineralocorticoid, and estrogen metabolism in the perinatal period. 56
12119960 1974
42
Congenital adrenal hypoplasia--an X-linked disease. 56
5312341 1970
43
Familial congenital adrenal hypoplasia. 56
5702234 1968
44
Adrenal Cortical Hypoplasia in Siblings. 56
21032374 1960
45
Addison's disease in two brothers. 56
13654502 1959
46
Familial occurrence of Addison's disease. 56
13381433 1956
47
CBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease. 54 61
18984668 2009
48
[A novel mutation of 428delG in DAX-1 gene causing X-linked adrenal congenital hypoplasia]. 61 54
19199243 2009
49
Extreme hyponatremia in an infant with congenital adrenal hypoplasia due to a novel NR0B1 (DAX-1) mutation. 54 61
18716981 2008
50
Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia. 61 54
16275267 2005

Variations for Adrenal Hypoplasia, Congenital

ClinVar genetic disease variations for Adrenal Hypoplasia, Congenital:

6 (show top 50) (show all 80) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR0B1 NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)SNV Pathogenic 429744 rs1131691564 X:30326773-30326773 X:30308656-30308656
2 subset of 19 genes: DMD , GK , IL1RAPL1 , NR0B1 NC_000023.10:g.(28450110_28771544)_(31838019_32614088)deldeletion Pathogenic 444069 X:28450110-32614088 X:28431993-32595971
3 subset of 12 genes: IL1RAPL1 , NR0B1 NC_000023.10:g.(29155333_29973170)_(30327505_30577779)deldeletion Pathogenic 444070 X:29155333-30577779 X:29137216-30559662
4 subset of 15 genes: DMD , GK , NR0B1 NC_000023.10:g.(29976475_30082636)_(31196736_31462831)deldeletion Pathogenic 444071 X:29976475-31462831 X:29958358-31444714
5 NR0B1 NC_000023.11:g.(?_30304579)_(30309363_?)deldeletion Pathogenic 444072 X:30322696-30327480 X:30304579-30309363
6 NR0B1 NM_000475.5(NR0B1):c.1169-112_*17delinsTGindel Pathogenic 444073 rs1555972632 X:30322679-30323052 X:30304562-30304935
7 NR0B1 NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer)deletion Pathogenic 444074 rs1555972655 X:30322874-30322875 X:30304757-30304758
8 NR0B1 NM_000475.5(NR0B1):c.1169-1G>ASNV Pathogenic 444075 rs1555972666 X:30322941-30322941 X:30304824-30304824
9 NR0B1 NM_000475.5(NR0B1):c.0_1168+260deldeletion Pathogenic 444076 X:30326053-30329380 X:30307936-30311263
10 NR0B1 NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp)SNV Pathogenic 444081 rs1555973058 X:30326708-30326708 X:30308591-30308591
11 NR0B1 NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter)SNV Pathogenic 444082 rs1311271225 X:30326716-30326716 X:30308599-30308599
12 NR0B1 NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs)indel Pathogenic 444083 rs1555973091 X:30326827-30326843 X:30308710-30308726
13 NR0B1 NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser)SNV Pathogenic 444077 rs1489209061 X:30326609-30326609 X:30308492-30308492
14 NR0B1 NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg)SNV Pathogenic 444078 rs1555973021 X:30326610-30326610 X:30308493-30308493
15 NR0B1 NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter)SNV Pathogenic 444079 rs1555973031 X:30326637-30326637 X:30308520-30308520
16 NR0B1 NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter)SNV Pathogenic 444080 rs753734546 X:30326659-30326659 X:30308542-30308542
17 NR0B1 NM_000475.5(NR0B1):c.652dup (p.Thr218fs)duplication Pathogenic 444084 rs1555973092 X:30326828-30326829 X:30308711-30308712
18 NR0B1 NM_000475.5(NR0B1):c.551_552del (p.Lys184fs)deletion Pathogenic 444085 rs1555973115 X:30326929-30326930 X:30308812-30308813
19 NR0B1 NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer)duplication Pathogenic 444086 rs1555973117 X:30326932-30326933 X:30308815-30308816
20 NR0B1 NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs)insertion Pathogenic 444087 rs1555973119 X:30326935-30326936 X:30308818-30308819
21 NR0B1 NM_000475.5(NR0B1):c.543del (p.Gly183fs)deletion Pathogenic 444088 rs1555973120 X:30326938-30326938 X:30308821-30308821
22 NR0B1 NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter)SNV Pathogenic 444089 rs1555973132 X:30326966-30326966 X:30308849-30308849
23 NR0B1 NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)SNV Pathogenic 444090 rs1555973172 X:30327154-30327154 X:30309037-30309037
24 NR0B1 NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter)SNV Pathogenic 444091 rs132630327 X:30327166-30327166 X:30309049-30309049
25 NR0B1 NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter)SNV Pathogenic 460312 rs1555973010 X:30326580-30326580 X:30308463-30308463
26 NR0B1 NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter)SNV Pathogenic 460310 rs1555973131 X:30326965-30326965 X:30308848-30308848
27 NR0B1 NM_000475.5(NR0B1):c.552del (p.Glu185fs)deletion Pathogenic 460311 rs1555973115 X:30326929-30326929 X:30308812-30308812
28 NR0B1 NM_000475.5(NR0B1):c.1362_1363CA[1] (p.Thr455fs)short repeat Pathogenic 492859 rs1555972640 X:30322744-30322745 X:30304627-30304628
29 NR0B1 NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro)SNV Pathogenic 492858 rs1555972641 X:30322769-30322769 X:30304652-30304652
30 NR0B1 NM_000475.5(NR0B1):c.1168+1_1168+20deldeletion Pathogenic 492857 rs1555972943 X:30326293-30326312 X:30308176-30308195
31 NR0B1 NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter)SNV Pathogenic 10949 rs104894890 X:30326634-30326634 X:30308517-30308517
32 NR0B1 NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter)SNV Pathogenic 10950 rs104894886 X:30326374-30326374 X:30308257-30308257
33 NR0B1 NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter)SNV Pathogenic 10951 rs104894887 X:30326693-30326693 X:30308576-30308576
34 NR0B1 NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro)SNV Pathogenic 10952 rs104894888 X:30326681-30326681 X:30308564-30308564
35 NR0B1 NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter)SNV Pathogenic 10953 rs104894889 X:30326777-30326777 X:30308660-30308660
36 NR0B1 NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter)SNV Pathogenic 10954 rs104894891 X:30326968-30326968 X:30308851-30308851
37 NR0B1 NR0B1, 1-BP DELdeletion Pathogenic 10955
38 NR0B1 NM_000475.5(NR0B1):c.273C>A (p.Tyr91Ter)SNV Pathogenic 10956 rs104894892 X:30327208-30327208 X:30309091-30309091
39 NR0B1 NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile)SNV Pathogenic 10957 rs28935481 X:30322790-30322790 X:30304673-30304673
40 NR0B1 NM_000475.5(NR0B1):c.1183C>T (p.Gln395Ter)SNV Pathogenic 10958 rs104894894 X:30322926-30322926 X:30304809-30304809
41 NR0B1 NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter)SNV Pathogenic 10959 rs104894895 X:30326668-30326668 X:30308551-30308551
42 NR0B1 NR0B1, 2-BP DEL, 1610AG, AND 1-BP INSindel Pathogenic 10960
43 NR0B1 NR0B1, 1-BP DEL, 1169Cdeletion Pathogenic 10961
44 NR0B1 NR0B1, 2-BP DEL, 388AGdeletion Pathogenic 10963
45 NR0B1 NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn)SNV Pathogenic 10964 rs104894896 X:30326335-30326335 X:30308218-30308218
46 NR0B1 NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys)SNV Pathogenic 10965 rs28935482 X:30326608-30326608 X:30308491-30308491
47 NR0B1 NR0B1, DELdeletion Pathogenic 10966
48 NR0B1 NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs)deletion Pathogenic 10967 rs1569268070 X:30322875-30322878 X:30304758-30304761
49 NR0B1 NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter)SNV Pathogenic 10968 rs104894898 X:30326890-30326890 X:30308773-30308773
50 NR0B1 NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser)SNV Pathogenic 10969 rs104894897 X:30322793-30322793 X:30304676-30304676

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

73 (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

Expression for Adrenal Hypoplasia, Congenital

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

Pathways for Adrenal Hypoplasia, Congenital

GO Terms for Adrenal Hypoplasia, Congenital

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 steroid biosynthetic process GO:0006694 9.54 STAR NR0B1 HSD3B2
2 female gonad development GO:0008585 9.52 WNT4 NR5A1
3 regulation of neuronal synaptic plasticity GO:0048168 9.51 STAR NSMF
4 steroid hormone mediated signaling pathway GO:0043401 9.5 NR5A1 NR0B1 ESRRB
5 response to corticosterone GO:0051412 9.49 STAR HSD3B2
6 hormone metabolic process GO:0042445 9.48 WNT4 NR5A1
7 regulation of steroid biosynthetic process GO:0050810 9.46 STAR NR5A1
8 male gonad development GO:0008584 9.46 WNT4 STAR NR5A1 NR0B1
9 cellular response to gonadotropin stimulus GO:0071371 9.43 STAR NSMF
10 intracellular receptor signaling pathway GO:0030522 9.43 NR5A1 NR0B1 ESRRB
11 sex determination GO:0007530 9.4 NR5A1 NR0B1
12 adrenal gland development GO:0030325 9.13 WNT4 NR5A1 NR0B1
13 male sex determination GO:0030238 8.8 NR5A1 NR0B1 GNRH1

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

# Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.13 NR5A1 NR0B1 ESRRB
2 nuclear receptor activity GO:0004879 8.8 NR5A1 NR0B1 ESRRB

Sources for Adrenal Hypoplasia, Congenital

3 CDC
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11 DGIdb
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18 ExPASy
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68 SNOMED-CT via HPO
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