MCID: NR0002
MIFTS: 15

Nr0b1-Related Adrenal Hypoplasia Congenita

Categories: Endocrine diseases

Aliases & Classifications for Nr0b1-Related Adrenal Hypoplasia Congenita

MalaCards integrated aliases for Nr0b1-Related Adrenal Hypoplasia Congenita:

Name: Nr0b1-Related Adrenal Hypoplasia Congenita 24

Classifications:



Summaries for Nr0b1-Related Adrenal Hypoplasia Congenita

MalaCards based summary : Nr0b1-Related Adrenal Hypoplasia Congenita is related to x-linked non-specific intellectual disability and adrenal hypoplasia, congenital. An important gene associated with Nr0b1-Related Adrenal Hypoplasia Congenita is DMD (Dystrophin). Affiliated tissues include pituitary and b cells.

GeneReviews: NBK1431

Related Diseases for Nr0b1-Related Adrenal Hypoplasia Congenita

Graphical network of the top 20 diseases related to Nr0b1-Related Adrenal Hypoplasia Congenita:



Diseases related to Nr0b1-Related Adrenal Hypoplasia Congenita

Symptoms & Phenotypes for Nr0b1-Related Adrenal Hypoplasia Congenita

Drugs & Therapeutics for Nr0b1-Related Adrenal Hypoplasia Congenita

Search Clinical Trials , NIH Clinical Center for Nr0b1-Related Adrenal Hypoplasia Congenita

Genetic Tests for Nr0b1-Related Adrenal Hypoplasia Congenita

Anatomical Context for Nr0b1-Related Adrenal Hypoplasia Congenita

MalaCards organs/tissues related to Nr0b1-Related Adrenal Hypoplasia Congenita:

41
Pituitary, B Cells

Publications for Nr0b1-Related Adrenal Hypoplasia Congenita

Articles related to Nr0b1-Related Adrenal Hypoplasia Congenita:

(show all 49)
# Title Authors PMID Year
1
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center. 4
28741070 2017
2
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. 4
28165343 2017
3
Mitochondrial disease and endocrine dysfunction. 4
27716753 2017
4
Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience. 4
27485500 2016
5
Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline. 4
26760044 2016
6
Timing, rates and spectra of human germline mutation. 4
26656846 2016
7
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort. 4
26523528 2016
8
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. 4
27648561 2016
9
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. 4
26303087 2015
10
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature. 4
25917374 2015
11
A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up. 4
23384712 2013
12
A novel DAX-1 mutation presented with precocious puberty and hypogonadotropic hypogonadism in different members of a large pedigree. 4
23585174 2013
13
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. 4
22634753 2012
14
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. 4
22518125 2012
15
Evidence of adrenal failure in aging Dax1-deficient mice. 4
21733829 2011
16
Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation. 4
21227944 2011
17
Puberty, stress, and sudden death. 4
21036276 2010
18
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations. 4
19508677 2010
19
Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis. 4
19188450 2009
20
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. 4
18984668 2009
21
The structure of corepressor Dax-1 bound to its target nuclear receptor LRH-1. 4
19015525 2008
22
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita. 4
18762570 2008
23
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. 4
17504899 2007
24
An amino-terminal DAX1 (NROB1) missense mutation associated with isolated mineralocorticoid deficiency. 4
17164309 2007
25
Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience. 4
16684822 2006
26
A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. 4
16459121 2006
27
DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients. 4
16645015 2006
28
Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene. 4
16061826 2005
29
Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. 4
15800903 2005
30
IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1. 4
15300857 2004
31
Molecular mechanisms of DAX1 action. 4
15464421 2004
32
DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. 4
12775766 2003
33
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita. 4
12519885 2003
34
Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. 4
11788621 2002
35
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. 4
11549627 2001
36
Variable presentation of X-linked adrenal hypoplasia congenita. 4
11592565 2001
37
Missense mutations cluster within the carboxyl-terminal region of DAX-1 and impair transcriptional repression. 4
11443184 2001
38
Presymptomatic diagnosis of X-linked adrenal hypoplasia congenita by analysis of DAX1. 4
11113848 2000
39
A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. 4
10675358 2000
40
X-linked adrenal hypoplasia congenita: a mutation in DAX1 expands the phenotypic spectrum in males and females. 4
10599709 1999
41
Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. 4
10210708 1999
42
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. 4
10022408 1999
43
Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. 4
9709929 1998
44
[Congenital adrenal hypoplasia and hearing loss. A case report]. 4
8684342 1995
45
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. 4
7990953 1994
46
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. 4
7990958 1994
47
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency. 4
1601004 1992
48
Addison's disease due to congenital hypoplasia of the adrenals in an infant aged 33 days. 4
18099667 1948
49
NR0B1-Related Adrenal Hypoplasia Congenita 38
20301604 2001

Variations for Nr0b1-Related Adrenal Hypoplasia Congenita

Expression for Nr0b1-Related Adrenal Hypoplasia Congenita

Search GEO for disease gene expression data for Nr0b1-Related Adrenal Hypoplasia Congenita.

Pathways for Nr0b1-Related Adrenal Hypoplasia Congenita

GO Terms for Nr0b1-Related Adrenal Hypoplasia Congenita

Cellular components related to Nr0b1-Related Adrenal Hypoplasia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.16 IL1RAPL1 DMD
2 postsynaptic membrane GO:0045211 8.96 IL1RAPL1 DMD
3 mitochondrial outer membrane GO:0005741 8.62 GK DMD

Biological processes related to Nr0b1-Related Adrenal Hypoplasia Congenita according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuron differentiation GO:0030182 8.62 IL1RAPL1 DMD

Sources for Nr0b1-Related Adrenal Hypoplasia Congenita

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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