MCID: SXC004
MIFTS: 12

Sex Chromosome Disorder of Sex Development

Categories: Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sex Chromosome Disorder of Sex Development

MalaCards integrated aliases for Sex Chromosome Disorder of Sex Development:

Name: Sex Chromosome Disorder of Sex Development 58
Sex Chromosome Dsd 58

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

UMLS via Orphanet 72 C2936421
Orphanet 58 ORPHA325546

Summaries for Sex Chromosome Disorder of Sex Development

MalaCards based summary : Sex Chromosome Disorder of Sex Development, also known as sex chromosome dsd, is related to mixed gonadal dysgenesis and disorders of sexual development. The drug Hormones has been mentioned in the context of this disorder.

Related Diseases for Sex Chromosome Disorder of Sex Development

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 mixed gonadal dysgenesis 10.0
2 disorders of sexual development 10.0
3 47,xyy 10.0
4 46,xy partial gonadal dysgenesis 10.0
5 46,xy ovotesticular disorder of sex development 10.0
6 syndrome with 46,xy disorder of sex development 10.0
7 amenorrhea 9.9
8 gonadal dysgenesis 9.9
9 hypogonadism 9.9
10 turner syndrome 9.9
11 48,xyyy 9.9

Graphical network of the top 20 diseases related to Sex Chromosome Disorder of Sex Development:



Diseases related to Sex Chromosome Disorder of Sex Development

Symptoms & Phenotypes for Sex Chromosome Disorder of Sex Development

Drugs & Therapeutics for Sex Chromosome Disorder of Sex Development

Drugs for Sex Chromosome 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 Sex Chromosome Disorder of Sex Development

Genetic Tests for Sex Chromosome Disorder of Sex Development

Anatomical Context for Sex Chromosome Disorder of Sex Development

Publications for Sex Chromosome Disorder of Sex Development

Articles related to Sex Chromosome Disorder of Sex Development:

(show all 20)
# Title Authors PMID Year
1
Observational study of disorders of sex development in Yaounde, Cameroon. 61
32069241 2020
2
Gender Identity and Assignment Recommendations in Disorders of Sex Development (DSD) Patients: 20 years’ Experience and Challenges 61
32212580 2020
3
Disorders of Sex Development: A 10 Years Experience with 73 Cases from the Kashmir Valley. 61
31803600 2019
4
Ambiguous genitalia: An overview of 7 years experience at the Children's Hospital & Institute of Child Health, Lahore, Pakistan. 61
30881414 2019
5
Etiology and Clinical Presentation of Disorders of Sex Development in Kenyan Children and Adolescents. 61
31871452 2019
6
Incidence and diagnoses of disorders of sex development in proximal hypospadias. 61
30224237 2018
7
Clinical Spectrum of Disorders of Sex Development: A Cross-sectional Observational Study. 61
30766817 2018
8
Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development. 61
30007989 2018
9
Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience. 61
29157626 2018
10
Disorders of sex development: timing of diagnosis and management in a single large tertiary center. 61
29581155 2018
11
Disorders of sex development: a study of 194 cases. 61
29386228 2018
12
Pragmatic approach to intersex, including genital ambiguity, in the newborn. 61
28535943 2017
13
Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre. 61
27754965 2017
14
[Clinical evaluation and management of neonates with disorder of sexual development]. 61
27974129 2016
15
Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia. 61
26935236 2016
16
Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth. 61
26529521 2015
17
Gonadal malignancy in 13 consecutive collected patients with disorders of sex development (DSD) from Semarang (Indonesia). 61
23268320 2013
18
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? 61
22644991 2012
19
Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis. 61
22145487 2011
20
Etiological classification and clinical assessment of children and adolescents with disorders of sex development. 61
21750636 2011

Variations for Sex Chromosome Disorder of Sex Development

Expression for Sex Chromosome Disorder of Sex Development

Search GEO for disease gene expression data for Sex Chromosome Disorder of Sex Development.

Pathways for Sex Chromosome Disorder of Sex Development

GO Terms for Sex Chromosome Disorder of Sex Development

Sources for Sex Chromosome 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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