MCID: CYT020
MIFTS: 23

Cytomegalic Congenital Adrenal Hypoplasia

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Cytomegalic Congenital Adrenal Hypoplasia

MalaCards integrated aliases for Cytomegalic Congenital Adrenal Hypoplasia:

Name: Cytomegalic Congenital Adrenal Hypoplasia 58
X-Linked Congenital Adrenal Hypoplasia 58
X-Linked Adrenal Hypoplasia Congenita 71

Characteristics:

Orphanet epidemiological data:

58
cytomegalic congenital adrenal hypoplasia
Inheritance: X-linked recessive;

Classifications:

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


External Ids:

ICD10 via Orphanet 33 E27.1
UMLS via Orphanet 72 C0220766 C0342482
Orphanet 58 ORPHA95702
UMLS 71 C0342482

Summaries for Cytomegalic Congenital Adrenal Hypoplasia

MalaCards based summary : Cytomegalic Congenital Adrenal Hypoplasia, also known as x-linked congenital adrenal hypoplasia, is related to adrenal hypoplasia, congenital and hypogonadism. An important gene associated with Cytomegalic Congenital Adrenal Hypoplasia is NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1). Affiliated tissues include adrenal gland, pituitary and brain.

Related Diseases for Cytomegalic Congenital Adrenal Hypoplasia

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



Diseases related to Cytomegalic Congenital Adrenal Hypoplasia

Symptoms & Phenotypes for Cytomegalic Congenital Adrenal Hypoplasia

Drugs & Therapeutics for Cytomegalic Congenital Adrenal Hypoplasia

Search Clinical Trials , NIH Clinical Center for Cytomegalic Congenital Adrenal Hypoplasia

Genetic Tests for Cytomegalic Congenital Adrenal Hypoplasia

Anatomical Context for Cytomegalic Congenital Adrenal Hypoplasia

MalaCards organs/tissues related to Cytomegalic Congenital Adrenal Hypoplasia:

40
Adrenal Gland, Pituitary, Brain

Publications for Cytomegalic Congenital Adrenal Hypoplasia

Articles related to Cytomegalic Congenital Adrenal Hypoplasia:

(show all 31)
# Title Authors PMID Year
1
Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia. 61
32460754 2020
2
A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia. 61
32166680 2020
3
Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment. 61
29176027 2017
4
X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation. 61
27376611 2016
5
X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report. 61
23272655 2012
6
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia. 61
22456342 2012
7
Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis. 61
21270512 2011
8
Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation. 61
21227944 2011
9
Growth hormone deficiency due to traumatic brain injury in a patient with X-linked congenital adrenal hypoplasia. 61
20718192 2010
10
X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene. 61
19773398 2009
11
Co-occurrence of X-linked congenital adrenal hypoplasia and autistic disorder. 61
19622699 2009
12
[X-linked congenital adrenal hypoplasia]. 61
16776214 2006
13
Corticotroph adenoma of the pituitary in a patient with X-linked adrenal hypoplasia congenita due to a novel mutation of the DAX-1 gene. 61
16061826 2005
14
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. 61
15800903 2005
15
Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. 61
12629128 2003
16
SF-1, DAX-1, and acd: molecular determinants of adrenocortical growth and steroidogenesis. 61
12530669 2002
17
Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy. 61
11014466 2000
18
X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients. 61
10931108 2000
19
Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia. 61
10323730 1999
20
Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. 61
9709929 1998
21
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. 61
9003500 1997
22
New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. 61
8636263 1996
23
[Congenital adrenal hypoplasia and hearing loss. A case report]. 61
8684342 1995
24
[Endocrinology 1994-1995]. 61
7489571 1995
25
Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome. 61
7955386 1994
26
Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency. 61
1601004 1992
27
X-linked congenital adrenal hypoplasia: proposal pathogenesis. 61
2732638 1989
28
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. 61
3101337 1987
29
X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family. 61
6891556 1982
30
Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. 61
6125810 1982
31
Cytomegalic adrenal hypoplasia with pituitary cytomegaly. 61
149412 1978

Variations for Cytomegalic Congenital Adrenal Hypoplasia

ClinVar genetic disease variations for Cytomegalic Congenital Adrenal Hypoplasia:

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# 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

Expression for Cytomegalic Congenital Adrenal Hypoplasia

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Pathways for Cytomegalic Congenital Adrenal Hypoplasia

GO Terms for Cytomegalic Congenital Adrenal Hypoplasia

Sources for Cytomegalic Congenital Adrenal Hypoplasia

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