AHC
MCID: ADR049
MIFTS: 52

Adrenal Hypoplasia, Congenital (AHC)

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

Aliases & Classifications for Adrenal Hypoplasia, Congenital

MalaCards integrated aliases for Adrenal Hypoplasia, Congenital:

Name: Adrenal Hypoplasia, Congenital 57 72 36 54 39
X-Linked Adrenal Hypoplasia Congenita 12 73 20 43 58 15 70
Congenital Adrenal Hypoplasia 12 20 58 29
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism 57 72 13
Adrenal Hypoplasia Congenita 20 43 58
X-Linked Ahc 20 43 58
Ahc 57 58 72
Ahc with Isolated Gonadotropin Deficiency 57 72
Congenital Adrenal Hypoplasia, X-Linked 29 6
X-Linked Congenital Adrenal Hypoplasia 20 58
Cytomegalic Adrenocortical Hypoplasia 57 72
Ahc with Hhg 57 72
Ahch 57 72
Ahx 57 72
Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism; Ahch 57
X-Linked Adrenal Hypoplasia Congenital 72
Congenital Hypoplasia of Adrenal Gland 70
Addison Disease, X-Linked; Ahx 57
Primary Adrenal Hypoplasia 58
Addison Disease, X-Linked 57
X-Linked Addison Disease 72

Characteristics:

Orphanet epidemiological data:

58
x-linked adrenal hypoplasia congenita
Inheritance: X-linked recessive;

OMIM®:

57 (Updated 20-May-2021)
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 x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


External Ids:

Disease Ontology 12 DOID:0080156
OMIM® 57 300200
KEGG 36 H01772
MeSH 44 D000309
ICD10 via Orphanet 33 E27.1
UMLS via Orphanet 71 C0220766 C0342482
UMLS 70 C0220766 C0342482

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) (Updated 20-May-2021)

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. Affiliated tissues include adrenal gland, cortex and adrenal cortex, and related phenotypes are failure to thrive and precocious puberty

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.

MedlinePlus Genetics : 43 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.

GARD : 20 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 : 72 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 : 73 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 168)
# Related Disease Score Top Affiliating Genes
1 alternating hemiplegia of childhood 32.6 NR5A1 NR0B1 MC2R
2 chromosome xp21 deletion syndrome 31.9 NR0B1 IL1RAPL1 DMD
3 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 31.0 SAMD9 NR5A1 NR0B1 MC2R GK CDKN1C
4 muscular dystrophy, duchenne type 30.5 NR0B1 GK DMD
5 glycerol kinase deficiency 30.4 NR5A1 NR0B1 IL1RAPL1 GK DMD
6 hypogonadotropic hypogonadism 30.0 NR5A1 NR0B1 GNRHR GNRH1
7 adrenal cortical hypofunction 30.0 STAR POMC NR5A1 NR0B1 MC2R
8 precocious puberty, male-limited 30.0 POMC NR0B1 GNRHR GNRH1
9 nr0b1-related adrenal hypoplasia congenita 29.9 NR0B1 IL1RAPL1 GK DMD
10 metaphyseal dysplasia 29.9 NR0B1 GK CDKN1C
11 oligospermia 29.9 GNRHR GNRH1 EPPIN
12 lipoid congenital adrenal hyperplasia 29.5 STAR POMC NR5A1 NR0B1 MC2R HSD3B2
13 pseudohermaphroditism 29.1 WNT4 STAR POMC NR5A1 NR0B1 HSD3B2
14 adrenal cortical carcinoma 29.1 STAR POMC NR5A1 NR0B1 MC2R EPPIN
15 kallmann syndrome 29.1 WNT4 NR5A1 NR0B1 GNRHR GNRH1 ESRRB
16 46,xy sex reversal 2 29.0 WNT4 STAR NR5A1 NR0B1 MC2R HSD3B2
17 cryptorchidism, unilateral or bilateral 28.9 STAR POMC NR5A1 NR0B1 HSD3B2 GNRHR
18 familial glucocorticoid deficiency 28.9 STAR SAMD9 POMC NR5A1 NR0B1 MC2R
19 hypoadrenocorticism, familial 28.8 STAR POMC NR5A1 NR0B1 MC2R IL1RAPL1
20 disorder of sexual development 28.1 WNT4 STAR POMC NR5A1 NR0B1 HSD3B2
21 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 11.8
22 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone 11.2
23 muscular dystrophy 10.5
24 conjunctivitis 10.5
25 acute hemorrhagic conjunctivitis 10.4
26 azoospermia 10.4
27 hypoglycemia 10.4
28 central precocious puberty 10.4
29 premature ovarian failure 7 10.3
30 growth hormone deficiency 10.3
31 hypoaldosteronism 10.3
32 acute adrenal insufficiency 10.3
33 ovarian sex-cord stromal tumor 10.2 NR5A1 EPPIN
34 46,xy partial gonadal dysgenesis 10.2 NR5A1 NR0B1
35 pachyonychia congenita 3 10.2
36 insulinoma 10.2
37 myopathy 10.2
38 atrophy of prostate 10.2 GNRH1 EPPIN
39 premenstrual tension 10.2 POMC GNRH1
40 waterhouse-friderichsen syndrome 10.2 POMC MC2R
41 pituitary infarct 10.2 POMC GNRH1
42 dowling-degos disease 1 10.2
43 adrenocortical carcinoma, hereditary 10.2
44 abnormal hair, joint laxity, and developmental delay 10.2
45 pseudohyperkalemia, familial, 2, due to red cell leak 10.2
46 testicular microlithiasis 10.2
47 aspiration pneumonia 10.2
48 testicular disease 10.2
49 pituitary adenoma 10.2
50 adrenal cortical adenocarcinoma 10.2

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 failure to thrive 31 HP:0001508
2 precocious puberty 31 HP:0000826
3 delayed puberty 31 HP:0000823
4 dehydration 31 HP:0001944
5 cryptorchidism 31 HP:0000028
6 azoospermia 31 HP:0000027
7 hyponatremia 31 HP:0002902
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®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

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

Endocrine Features:
precocious puberty
delayed puberty
adrenal insufficiency
absence of pubertal development
hypoplastic adrenal glands
more
Genitourinary Internal Genitalia Male:
cryptorchidism
azoospermia
oligospermia

Genitourinary External Genitalia Male:
hypogonadotropic hypogonadism

Clinical features from OMIM®:

300200 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Adrenal Hypoplasia, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.61 DMD GNRH1 GNRHR MC2R NR0B1 NR5A1
2 reproductive system MP:0005389 9.23 DMD GK GNRH1 GNRHR NR0B1 NR5A1

Drugs & Therapeutics for Adrenal Hypoplasia, Congenital

Search Clinical Trials , 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, Cortex, Adrenal Cortex, Pituitary, Eye, Brain, Prostate

Publications for Adrenal Hypoplasia, Congenital

Articles related to Adrenal Hypoplasia, Congenital:

(show top 50) (show all 202)
# Title Authors PMID Year
1
Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1. 54 61 6 57
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. 57 6 61
12519885 2003
3
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. 61 6 57
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 57 6
11549627 2001
5
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 6 57 61
10675358 2000
6
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 61 6 57
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. 6 57
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. 6 57
9003500 1997
9
X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family. 57 6
6891556 1982
10
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. 54 61 57
19508677 2010
11
Phenotypic spectrum of mutations in DAX-1 and SF-1. 6 54 61
11738790 2001
12
An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency. 57 61
17164309 2007
13
Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. 54 6
12629128 2003
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. 61 6
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. 57 61
9529340 1998
19
A transcriptional silencing domain in DAX-1 whose mutation causes adrenal hypoplasia congenita. 61 6
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. 6 61
8855822 1996
22
New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. 6 54
8636263 1996
23
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. 6 61
7990953 1994
24
A Novel Mutation of DAX-1 Associated with Secretory Azoospermia. 57
26207377 2015
25
Genetic analysis of NR0B1 in congenital adrenal hypoplasia patients: identification of a rare regulatory variant resulting in congenital adrenal hypoplasia and hypogonadal hypogonadism without testicular carcinoma in situ. 6
23018754 2012
26
Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene. 6
10522996 1999
27
Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. 6
10210708 1999
28
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. 57
10022408 1999
29
Coal-black hyperpigmentation at birth in a child with congenital adrenal hypoplasia. 57
7615878 1995
30
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency. 57
1601004 1992
31
Adrenomyeloneuropathy presenting as Addison's disease in childhood. 57
2294415 1990
32
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. 57
3101337 1987
33
Proposed assignment of loci for X-linked adrenal hypoplasia and glycerol kinase genes. 57
2856983 1985
34
Failure of adrenal androgen to induce puberty in familial cytomegalic adrenocortical hypoplasia. 57
6129550 1982
35
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. 57
6125810 1982
36
Familial X-linked Addison disease as an expression of adrenoleukodystrophy (ALD): elevated C26 fatty acid in cultured skin fibroblasts. 57
6280107 1982
37
Familial cytomegalic adrenocortical hypoplasia: an X-linked syndrome of pubertal failure. 57
7197507 1981
38
Gonadotropin deficiency and cryptorchidism in three prepubertal brothers with congenital adrenal hypoplasia. 57
6105176 1980
39
Congenital X-linked adrenal hypoplasia. 57
150559 1978
40
Pubertal failure in congenital adrenocortical hypoplasia. 57
72939 1977
41
Congenital adrenal hypoplasia and hypogonadotropic hypogonadism. 57
910763 1977
42
Luteinizing hormone deficiency in hereditary congenital adrenal hypoplasia. 57
1113233 1975
43
[Congenital adrenal hypoplasia of cytomegalic type. Recessive, sex-linked form. Apropos of 3 cases]. 57
1217948 1975
44
Familial congenital absence of adrenal glands; evaluation of glucocorticoid, mineralocorticoid, and estrogen metabolism in the perinatal period. 57
12119960 1974
45
Congenital adrenal hypoplasia--an X-linked disease. 57
5312341 1970
46
Familial congenital adrenal hypoplasia. 57
5702234 1968
47
Adrenal Cortical Hypoplasia in Siblings. 57
21032374 1960
48
Addison's disease in two brothers. 57
13654502 1959
49
Familial occurrence of Addison's disease. 57
13381433 1956
50
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. 61 54
18984668 2009

Variations for Adrenal Hypoplasia, Congenital

ClinVar genetic disease variations for Adrenal Hypoplasia, Congenital:

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 20 genes NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del Deletion Pathogenic 444069 GRCh37: X:28450110-32614088
GRCh38: X:28431993-32595971
2 NR0B1 NC_000023.11:g.(?_30304579)_(30309363_?)del Deletion Pathogenic 444072 GRCh37: X:30322696-30327480
GRCh38: X:30304579-30309363
3 overlap with 12 genes NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del Deletion Pathogenic 444070 GRCh37: X:29155333-30577779
GRCh38: X:29137216-30559662
4 overlap with 16 genes NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del Deletion Pathogenic 444071 GRCh37: X:29976475-31462831
GRCh38: X:29958358-31444714
5 NR0B1 NM_000475.5(NR0B1):c.847C>T (p.Gln283Ter) SNV Pathogenic 10949 rs104894890 GRCh37: X:30326634-30326634
GRCh38: X:30308517-30308517
6 NR0B1 NM_000475.5(NR0B1):c.1107G>A (p.Trp369Ter) SNV Pathogenic 10950 rs104894886 GRCh37: X:30326374-30326374
GRCh38: X:30308257-30308257
7 NR0B1 NM_000475.5(NR0B1):c.788T>A (p.Leu263Ter) SNV Pathogenic 10951 rs104894887 GRCh37: X:30326693-30326693
GRCh38: X:30308576-30308576
8 NR0B1 NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) SNV Pathogenic 10952 rs104894888 GRCh37: X:30326681-30326681
GRCh38: X:30308564-30308564
9 NR0B1 NM_000475.5(NR0B1):c.704G>A (p.Trp235Ter) SNV Pathogenic 10953 rs104894889 GRCh37: X:30326777-30326777
GRCh38: X:30308660-30308660
10 NR0B1 NM_000475.5(NR0B1):c.513G>A (p.Trp171Ter) SNV Pathogenic 10954 rs104894891 GRCh37: X:30326968-30326968
GRCh38: X:30308851-30308851
11 NR0B1 NM_000475.5(NR0B1):c.1319A>T (p.Asn440Ile) SNV Pathogenic 10957 rs28935481 GRCh37: X:30322790-30322790
GRCh38: X:30304673-30304673
12 NR0B1 NM_000475.5(NR0B1):c.813C>G (p.Tyr271Ter) SNV Pathogenic 10959 rs104894895 GRCh37: X:30326668-30326668
GRCh38: X:30308551-30308551
13 NR0B1 NM_000475.5(NR0B1):c.1146G>T (p.Lys382Asn) SNV Pathogenic 10964 rs104894896 GRCh37: X:30326335-30326335
GRCh38: X:30308218-30308218
14 NR0B1 NM_000475.5(NR0B1):c.873G>C (p.Trp291Cys) SNV Pathogenic 10965 rs28935482 GRCh37: X:30326608-30326608
GRCh38: X:30308491-30308491
15 NR0B1 NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) Deletion Pathogenic 10967 rs1569268070 GRCh37: X:30322875-30322878
GRCh38: X:30304758-30304761
16 NR0B1 NM_000475.5(NR0B1):c.591C>A (p.Tyr197Ter) SNV Pathogenic 10968 rs104894898 GRCh37: X:30326890-30326890
GRCh38: X:30308773-30308773
17 NR0B1 NM_000475.5(NR0B1):c.1316T>G (p.Ile439Ser) SNV Pathogenic 10969 rs104894897 GRCh37: X:30322793-30322793
GRCh38: X:30304676-30304676
18 NR0B1 NM_000475.5(NR0B1):c.501del (p.Gly169fs) Deletion Pathogenic 10970 rs1569268976 GRCh37: X:30326980-30326980
GRCh38: X:30308863-30308863
19 NR0B1 NM_000475.5(NR0B1):c.1142T>A (p.Leu381His) SNV Pathogenic 10971 rs104894899 GRCh37: X:30326339-30326339
GRCh38: X:30308222-30308222
20 NR0B1 NM_000475.5(NR0B1):c.1138T>G (p.Tyr380Asp) SNV Pathogenic 10973 rs104894900 GRCh37: X:30326343-30326343
GRCh38: X:30308226-30308226
21 NR0B1 NM_000475.5(NR0B1):c.1197C>A (p.Tyr399Ter) SNV Pathogenic 10975 rs104894906 GRCh37: X:30322912-30322912
GRCh38: X:30304795-30304795
22 NR0B1 NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) SNV Pathogenic 10976 rs104894907 GRCh37: X:30326591-30326591
GRCh38: X:30308474-30308474
23 NR0B1 NM_000475.5(NR0B1):c.109C>T (p.Gln37Ter) SNV Pathogenic 10977 rs104894908 GRCh37: X:30327372-30327372
GRCh38: X:30309255-30309255
24 NR0B1 NM_000475.5(NR0B1):c.652dup (p.Thr218fs) Duplication Pathogenic 444084 rs1555973092 GRCh37: X:30326828-30326829
GRCh38: X:30308711-30308712
25 NR0B1 NM_000475.5(NR0B1):c.545_546insCCCA (p.Gly183fs) Insertion Pathogenic 444087 rs1555973119 GRCh37: X:30326935-30326936
GRCh38: X:30308818-30308819
26 NR0B1 NM_000475.5(NR0B1):c.872G>C (p.Trp291Ser) SNV Pathogenic 444077 rs1489209061 GRCh37: X:30326609-30326609
GRCh38: X:30308492-30308492
27 NR0B1 NM_000475.5(NR0B1):c.1169-1G>A SNV Pathogenic 444075 rs1555972666 GRCh37: X:30322941-30322941
GRCh38: X:30304824-30304824
28 NR0B1 NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) SNV Pathogenic 444090 rs1555973172 GRCh37: X:30327154-30327154
GRCh38: X:30309037-30309037
29 NR0B1 NM_000475.5(NR0B1):c.765C>A (p.Cys255Ter) SNV Pathogenic 444082 rs1311271225 GRCh37: X:30326716-30326716
GRCh38: X:30308599-30308599
30 NR0B1 NM_000475.5(NR0B1):c.822C>A (p.Cys274Ter) SNV Pathogenic 444080 rs753734546 GRCh37: X:30326659-30326659
GRCh38: X:30308542-30308542
31 NR0B1 NM_000475.5(NR0B1):c.315G>A (p.Trp105Ter) SNV Pathogenic 444091 rs132630327 GRCh37: X:30327166-30327166
GRCh38: X:30309049-30309049
32 NR0B1 NM_000475.5(NR0B1):c.543del (p.Gly183fs) Deletion Pathogenic 444088 rs1555973120 GRCh37: X:30326938-30326938
GRCh38: X:30308821-30308821
33 NR0B1 NM_000475.5(NR0B1):c.551_552del (p.Lys184fs) Deletion Pathogenic 444085 rs1555973115 GRCh37: X:30326929-30326930
GRCh38: X:30308812-30308813
34 NR0B1 NM_000475.5(NR0B1):c.1169-112_*17delinsTG Indel Pathogenic 444073 rs1555972632 GRCh37: X:30322679-30323052
GRCh38: X:30304562-30304935
35 NR0B1 NM_000475.5(NR0B1):c.871T>C (p.Trp291Arg) SNV Pathogenic 444078 rs1555973021 GRCh37: X:30326610-30326610
GRCh38: X:30308493-30308493
36 NR0B1 NM_000475.5(NR0B1):c.548dup (p.Gly183_Lys184insTer) Duplication Pathogenic 444086 rs1555973117 GRCh37: X:30326932-30326933
GRCh38: X:30308815-30308816
37 NR0B1 NM_000475.5(NR0B1):c.638_654delinsCATC (p.Leu213fs) Indel Pathogenic 444083 rs1555973091 GRCh37: X:30326827-30326843
GRCh38: X:30308710-30308726
38 NR0B1 NM_000475.5(NR0B1):c.515G>A (p.Trp172Ter) SNV Pathogenic 444089 rs1555973132 GRCh37: X:30326966-30326966
GRCh38: X:30308849-30308849
39 NR0B1 NM_000475.5(NR0B1):c.1234_1235del (p.Leu411_Ser412insTer) Deletion Pathogenic 444074 rs1555972655 GRCh37: X:30322874-30322875
GRCh38: X:30304757-30304758
40 NR0B1 NM_000475.5(NR0B1):c.773C>A (p.Ala258Asp) SNV Pathogenic 444081 rs1555973058 GRCh37: X:30326708-30326708
GRCh38: X:30308591-30308591
41 NR0B1 NM_000475.5(NR0B1):c.844C>T (p.Gln282Ter) SNV Pathogenic 444079 rs1555973031 GRCh37: X:30326637-30326637
GRCh38: X:30308520-30308520
42 NR0B1 NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) SNV Pathogenic 460312 rs1555973010 GRCh37: X:30326580-30326580
GRCh38: X:30308463-30308463
43 NR0B1 NM_000475.5(NR0B1):c.552del (p.Glu185fs) Deletion Pathogenic 460311 rs1555973115 GRCh37: X:30326929-30326929
GRCh38: X:30308812-30308812
44 NR0B1 NM_000475.5(NR0B1):c.277del (p.Ala93fs) Deletion Pathogenic 492851 rs1555973189 GRCh37: X:30327204-30327204
GRCh38: X:30309087-30309087
45 NR0B1 NM_000475.5(NR0B1):c.754del (p.Gln252fs) Deletion Pathogenic 492852 rs1555973063 GRCh37: X:30326727-30326727
GRCh38: X:30308610-30308610
46 NR0B1 NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter) SNV Pathogenic 492854 rs1555972994 GRCh37: X:30326529-30326529
GRCh38: X:30308412-30308412
47 NR0B1 NM_000475.5(NR0B1):c.1168+1_1168+20del Deletion Pathogenic 492857 rs1555972943 GRCh37: X:30326293-30326312
GRCh38: X:30308176-30308195
48 NR0B1 NM_000475.5(NR0B1):c.806T>A (p.Val269Asp) SNV Pathogenic 492853 rs1555973045 GRCh37: X:30326675-30326675
GRCh38: X:30308558-30308558
49 NR0B1 NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs) Insertion Pathogenic 492855 rs1555972957 GRCh37: X:30326357-30326358
GRCh38: X:30308240-30308241
50 NR0B1 NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro) SNV Pathogenic 492858 rs1555972641 GRCh37: X:30322769-30322769
GRCh38: X:30304652-30304652

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

72 (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:

# Name GO ID Score Top Affiliating Genes
1 female gonad development GO:0008585 9.46 WNT4 NR5A1
2 male gonad development GO:0008584 9.46 WNT4 STAR NR5A1 NR0B1
3 response to corticosterone GO:0051412 9.43 STAR HSD3B2
4 hormone metabolic process GO:0042445 9.4 WNT4 NR5A1
5 regulation of steroid biosynthetic process GO:0050810 9.37 STAR NR5A1
6 sex determination GO:0007530 9.32 NR5A1 NR0B1
7 negative regulation of steroid biosynthetic process GO:0010894 9.26 WNT4 NR0B1
8 adrenal gland development GO:0030325 9.13 WNT4 NR5A1 NR0B1
9 male sex determination GO:0030238 8.8 NR5A1 NR0B1 GNRH1

Sources for Adrenal Hypoplasia, Congenital

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