46,xx Disorder of Sex Development disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for 46,xx Disorder of Sex Development

MalaCards integrated aliases for 46,xx Disorder of Sex Development:

Name: 46,xx Disorder of Sex Development ⁵⁸

Syndrome with 46,xx Disorder of Sex Development ⁵⁸

Syndrome with 46,xx Dsd ⁵⁸

46,xx Dsd ⁵⁸

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases Metabolic diseases
Anatomical: Endocrine diseases Reproductive diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of genital organs

Indeterminate sex and pseudohermaphroditism

Female pseudohermaphroditism, not elsewhere classified

Orphanet: ⁵⁸

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

MESH via Orphanet ⁴⁴ D058489

ICD10 via Orphanet ³³ Q56.2

UMLS via Orphanet ⁷² C0238394 C2936403

Orphanet ⁵⁸ ORPHA2982 ORPHA325109

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Summaries for 46,xx Disorder of Sex Development

MalaCards based summary : 46,xx Disorder of Sex Development, also known as syndrome with 46,xx disorder of sex development, is related to 46,xx disorder of sex development-anorectal anomalies syndrome and genetic 46,xx disorder of sex development. An important gene associated with 46,xx Disorder of Sex Development is LOC108004545 (SOX9 Testis Enhancer F8). The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include placenta and skin.

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Related Diseases for 46,xx Disorder of Sex Development

Diseases in the Sex Development Disorder family:

46,xx Disorder of Sex Development	46,xy Disorder of Sex Development Due to a Cholesterol Synthesis Defect
46,xy Disorder of Sex Development Due to Impaired Androgen Production	46,xy Disorder of Sex Development Due to Testicular Steroidogenesis Defect
46,xy Disorder of Sex Development Due to Adrenal and Testicular Steroidogenesis Defect	46,xy Disorder of Sex Development Due to a Testosterone Synthesis Defect
46,xy Disorder of Sex Development Due to a Defect in Testosterone Metabolism by Peripheral Tissue	Syndrome with 46,xy Disorder of Sex Development

Diseases related to 46,xx Disorder of Sex Development via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)

#	Related Disease	Score
1	46,xx disorder of sex development-anorectal anomalies syndrome	12.6
2	genetic 46,xx disorder of sex development	12.6
3	46,xx disorder of sex development induced by exogenous maternal-derived androgen	12.6
4	46,xx disorder of sex development induced by endogenous maternal-derived androgen	12.6
5	46,xx disorder of sex development induced by fetoplacental androgens excess	12.6
6	46,xx disorder of sex development induced by fetal androgens excess	12.6
7	46,xx disorder of sex development induced by maternal-derived androgen	12.6
8	46,xx disorder of sex development induced by androgens excess	12.6
9	pseudohermaphroditism, female, with skeletal anomalies	11.6
10	aromatase deficiency	11.6
11	46,xx sex reversal 1	11.3
12	palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal	11.3
13	lipoid congenital adrenal hyperplasia	10.2
14	sex development disorder	10.2
15	syndrome with 46,xy disorder of sex development	10.2
16	coarctation of aorta	10.2
17	antley-bixler syndrome	10.2
18	ptosis	10.2
19	blepharophimosis	10.2
20	hyperandrogenism	10.2
21	synostosis	10.2
22	craniosynostosis	10.2
23	palmoplantar keratosis	10.2
24	ovarian cyst	10.2
25	campomelic dysplasia	10.0
26	diaphragmatic hernia, congenital	10.0
27	adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	10.0
28	cryptorchidism, unilateral or bilateral	10.0
29	46,xx sex reversal 2	10.0
30	androgen insensitivity syndrome	10.0
31	branchiootic syndrome 1	10.0
32	46,xy sex reversal 10	10.0
33	perrault syndrome	10.0
34	hypospadias	10.0
35	azoospermia	10.0
36	gonadal dysgenesis	10.0
37	hypogonadism	10.0
38	hypogonadotropism	10.0
39	nonsyndromic 46,xx testicular disorders of sex development	10.0
40	complete androgen insensitivity syndrome	10.0

Graphical network of the top 20 diseases related to 46,xx Disorder of Sex Development:

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Symptoms & Phenotypes for 46,xx Disorder of Sex Development

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Drugs & Therapeutics for 46,xx Disorder of Sex Development

Drugs for 46,xx Disorder of Sex Development (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Hormones

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	COPENHAGEN Minipuberty Study	Active, not recruiting	NCT02784184

Search NIH Clinical Center for 46,xx Disorder of Sex Development

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Genetic Tests for 46,xx Disorder of Sex Development

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Anatomical Context for 46,xx Disorder of Sex Development

MalaCards organs/tissues related to 46,xx Disorder of Sex Development:

⁴⁰

Placenta, Skin

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Publications for 46,xx Disorder of Sex Development

Articles related to 46,xx Disorder of Sex Development:

(show all 12)

#	Title	Authors	PMID	Year
1	Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency. ⁶¹	Agrawal SS...Maiti A	31801784	2019
2	Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. ⁶¹	Tallapaka K...Aggarwal S	29575617	2018
3	Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association. ⁶¹	Du YT...Ho JT	30087777	2018
4	Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. ⁶¹	Kim GJ...Scherer G	25604083	2015
5	A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism. ⁶¹	Reisch N...Krone N	23940125	2013
6	A case report of an incidental finding of a 46,XX, SRY-negative male with masculine phenotype during standard fertility workup with review of the literature and proposed immediate and long-term management guidance. ⁶¹	Ryan NA...Akbar S	23290744	2013
7	Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. ⁶¹	Benko S...Lyonnet S	22051515	2011
8	Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. ⁶¹	Hauri-Hohl A...Biason-Lauber A	21521281	2011
9	MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female. ⁶¹	Brandao MP...Mendonca BB	21691970	2011
10	Laparoscopic surgery in 46,XX disorder of sex development: hysterosalpingectomy with gonadectomy. ⁶¹	de Lima GR...Gonzaga-Silva LF	20001739	2010
11	A 5-year-old boy with cryptorchidism and pubic hair: investigation and management of apparent male disorders of sex development in mid-childhood. ⁶¹	Keir LS...Ahmed SF	19153514	2009
12	Age-specific changes in sex steroid biosynthesis and sex development. ⁶¹	Krone N...Arlt W	17875487	2007

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Genes for 46,xx Disorder of Sex Development

Genes related to 46,xx Disorder of Sex Development (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	LOC108004545	SOX9 Testis Enhancer F8	Biological Region	7.37	GeneCards inferred via : Publications (show sections)
2	SOX9	SRY-Box Transcription Factor 9	Protein Coding	7.37	GeneCards inferred via : Publications (show sections)

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Variations for 46,xx Disorder of Sex Development

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Expression for 46,xx Disorder of Sex Development

Search GEO for disease gene expression data for 46,xx Disorder of Sex Development.

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Pathways for 46,xx Disorder of Sex Development

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GO Terms for 46,xx Disorder of Sex Development

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Sources for 46,xx Disorder of Sex Development

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