Cytomegalic Congenital Adrenal Hypoplasia

MalaCards integrated aliases for Cytomegalic Congenital Adrenal Hypoplasia:

X-Linked Congenital Adrenal Hypoplasia 58

X-Linked Adrenal Hypoplasia Congenita 71

Characteristics:

Classifications:

Diseases in the Cytomegalic Congenital Adrenal Hypoplasia family:

Adrenal Hypoplasia, Cytomegalic Type

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

(show all 25)

#	Related Disease	Score	Top Affiliating Genes
1	adrenal hypoplasia, congenital	12.1
2	hypogonadism	10.5
3	hypogonadotropic hypogonadism	10.5
4	hypoglycemia	10.4
5	primary adrenal insufficiency	10.4
6	metabolic acidosis	10.3
7	hypoadrenocorticism, familial	10.2
8	46,xy sex reversal 2	10.2
9	glycerol kinase deficiency	10.2
10	premature ovarian failure 7	10.2
11	dowling-degos disease 1	10.1
12	lipoid congenital adrenal hyperplasia	10.1
13	autism	10.1
14	chromosome xp21 deletion syndrome	10.1
15	muscular dystrophy, duchenne type	10.1
16	familial glucocorticoid deficiency	10.1
17	hypospadias	10.1
18	neurilemmoma	10.1
19	pituitary gland disease	10.1
20	diabetes insipidus	10.1
21	muscular dystrophy	10.1
22	nr0b1-related adrenal hypoplasia congenita	10.1
23	growth hormone deficiency	10.1
24	brain injury	10.1
25	traumatic brain injury	10.1

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	Seo BK...Youn HS	32460754	2020
2	A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia. 61	Wu SM...Chen L	32166680	2020
3	Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment. 61	Yang J...Xiao X	29176027	2017
4	X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation. 61	Abraham MB...Curran J	27376611	2016
5	X-linked congenital adrenal hypoplasia associated with hypospadias in an Egyptian baby: a case report. 61	Metwalley KA...Farghaly HS	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	Barbaro M...Riepe FG	22456342	2012
7	Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis. 61	Wu CM...Ruan LY	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	Frapsauce C...Christin-Maitre S	21227944	2011
9	Growth hormone deficiency due to traumatic brain injury in a patient with X-linked congenital adrenal hypoplasia. 61	Engiz O...Kandemir N	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	Skinningsrud B...Undlien DE	19773398	2009
11	Co-occurrence of X-linked congenital adrenal hypoplasia and autistic disorder. 61	Sieg KG	19622699	2009
12	[X-linked congenital adrenal hypoplasia]. 61	Kaji M	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	De Menis E...Cremonini N	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	Franzese A...Valerio G	15800903	2005
15	Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. 61	Brown P...Anderson RA	12629128	2003
16	SF-1, DAX-1, and acd: molecular determinants of adrenocortical growth and steroidogenesis. 61	Beuschlein F...Hammer GD	12530669	2002
17	Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy. 61	Loke KY...Drop SL	11014466	2000
18	X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients. 61	Binder G...Ranke MB	10931108	2000
19	Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia. 61	Abe S...Fujieda K	10323730	1999
20	Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis, and report on new point mutations of the DAX-1 gene. 61	Peter M...Sippell WG	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	Schwartz M...Muller J	9003500	1997
22	New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. 61	Yanase T...Nawata H	8636263	1996
23	[Congenital adrenal hypoplasia and hearing loss. A case report]. 61	Liotta A...La Grutta S	8684342	1995
24	[Endocrinology 1994-1995]. 61	Schreiber V	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	Cole DE...Salisbury S	7955386	1994
26	Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency. 61	Zachmann M...Prader A	1601004	1992
27	X-linked congenital adrenal hypoplasia: proposal pathogenesis. 61	Preeyasombat C...Chaubtam L	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	Kikuchi K...Sudo M	3101337	1987
29	X-linked congenital adrenal hypoplasia. A study of five generations of a Greenlandic Family. 61	Petersen KE...Iversen T	6891556	1982
30	Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia. 61	Bartley JA...McCabe ER	6125810	1982
31	Cytomegalic adrenal hypoplasia with pituitary cytomegaly. 61	Marsden HB...Zakhour HD	149412	1978

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NR0B1	Nuclear Receptor Subfamily 0 Group B Member 1	Protein Coding	750	Pathogenic 6 Pathogenic/Likely pathogenic 6 Causative germline mutation (loss of function) 58

ClinVar genetic disease variations for Cytomegalic Congenital Adrenal Hypoplasia:

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)del	deletion	Pathogenic	444069		X:28450110-32614088	X:28431993-32595971
3	subset of 12 genes: IL1RAPL1 , NR0B1	NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del	deletion	Pathogenic	444070		X:29155333-30577779	X:29137216-30559662
4	subset of 15 genes: DMD , GK , NR0B1	NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del	deletion	Pathogenic	444071		X:29976475-31462831	X:29958358-31444714
5	NR0B1	NC_000023.11:g.(?_30304579)_(30309363_?)del	deletion	Pathogenic	444072		X:30322696-30327480	X:30304579-30309363
6	NR0B1	NM_000475.5(NR0B1):c.1169-112_*17delinsTG	indel	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>A	SNV	Pathogenic	444075	rs1555972666	X:30322941-30322941	X:30304824-30304824
9	NR0B1	NM_000475.5(NR0B1):c.0_1168+260del	deletion	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+20del	deletion	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 DEL	deletion	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 INS	indel	Pathogenic	10960
43	NR0B1	NR0B1, 1-BP DEL, 1169C	deletion	Pathogenic	10961
44	NR0B1	NR0B1, 2-BP DEL, 388AG	deletion	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, DEL	deletion	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