MCID: 46X060
MIFTS: 19

46,xx Disorder of Sex Development

Categories: Endocrine diseases, Fetal diseases, Metabolic diseases, Rare diseases, Reproductive diseases

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:

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

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.

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 Top Affiliating Genes
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:



Diseases related to 46,xx Disorder of Sex Development

Symptoms & Phenotypes for 46,xx Disorder of Sex Development

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

Genetic Tests for 46,xx Disorder of Sex Development

Anatomical Context for 46,xx Disorder of Sex Development

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

40
Placenta, Skin

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
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
29575617 2018
3
Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association. 61
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
25604083 2015
5
A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism. 61
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
23290744 2013
7
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 61
22051515 2011
8
Aromatase deficiency owing to a functional variant in the placenta promoter and a novel missense mutation in the CYP19A1 gene. 61
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
21691970 2011
10
Laparoscopic surgery in 46,XX disorder of sex development: hysterosalpingectomy with gonadectomy. 61
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
19153514 2009
12
Age-specific changes in sex steroid biosynthesis and sex development. 61
17875487 2007

Variations for 46,xx Disorder of Sex Development

Expression for 46,xx Disorder of Sex Development

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

Pathways for 46,xx Disorder of Sex Development

GO Terms for 46,xx Disorder of Sex Development

Sources for 46,xx Disorder of Sex Development

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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