DSD
MCID: DSR089
MIFTS: 45

Disorders of Sexual Development (DSD)

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

Aliases & Classifications for Disorders of Sexual Development

MalaCards integrated aliases for Disorders of Sexual Development:

Name: Disorders of Sexual Development 12 15
Disorder of Sex Development 58 39
Disorders of Sex Development 43
Sex Differentiation Disease 12
Sex Development Disorder 12
Dsd 58

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:1923
MeSH 43 D012734
MESH via Orphanet 44 D012734
UMLS via Orphanet 72 C0036875
Orphanet 58 ORPHA90771
UMLS 71 C0036875

Summaries for Disorders of Sexual Development

Disease Ontology : 12 A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.

MalaCards based summary : Disorders of Sexual Development, also known as disorder of sex development, is related to 46,xx sex reversal and hypogonadotropic hypogonadism 23 without anosmia. An important gene associated with Disorders of Sexual Development is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Prolactin Signaling Pathway. The drugs Follicle Stimulating Hormone and Chorionic Gonadotropin have been mentioned in the context of this disorder. Affiliated tissues include testes, prostate and testis, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 Disorders of sex development (DSDs), also known as differences in sex development, diverse sex... more...

Related Diseases for Disorders of Sexual Development

Diseases in the Disorders of Sexual Development family:

46, Xy Disorders of Sexual Development 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

Diseases related to Disorders of Sexual Development via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 335)
# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 33.6 WNT4 SOX9 NR5A1 NR0B1 DMRT1 DHH
2 hypogonadotropic hypogonadism 23 without anosmia 33.4 GNRH1 EPPIN
3 46,xy sex reversal 2 33.4 WNT4 SOX9 NR5A1 NR0B1 CYP17A1 AMH
4 chondrodysplasia-pseudohermaphroditism syndrome 33.3 WNT4 SOX9 NR5A1 NR0B1
5 pseudovaginal perineoscrotal hypospadias 33.0 LHCGR GNRH1 CYP17A1 AR
6 persistent mullerian duct syndrome 32.9 WNT4 SOX9 RXFP2 NR5A1 NR0B1 INSL3
7 gonadal dysgenesis 32.6 SOX9 SHOX SHBG NR5A1 NR0B1 H2AC18
8 46,xy sex reversal 9 32.5 SOX9 NR5A1 AR AMH
9 46,xy sex reversal 32.4 WNT4 SOX9 NR5A1 NR0B1 LHCGR INS
10 androgen insensitivity syndrome 31.3 SHBG NR5A1 INS AR AMH
11 mixed gonadal dysgenesis 31.2 SOX9 NR5A1 DHH AMH
12 hypospadias 31.2 SOX9 RXFP2 NR5A1 LHCGR INSL3 CYP17A1
13 gonadoblastoma 31.0 SOX9 NR5A1 DMRT1 AMH
14 germ cell cancer 31.0 LHCGR H2AC18 DMRT1 AR
15 lipoid congenital adrenal hyperplasia 30.9 SHBG PRL NR5A1 NR0B1 INS GNRH1
16 gynecomastia 30.8 SHBG PRL GNRH1 AR
17 hermaphroditism 30.8 WNT4 SOX9 SHBG NR0B1 DMRT1 AR
18 hypogonadism 30.8 SHBG PRL NR0B1 LHCGR INS GNRH1
19 male infertility 30.8 SHBG NR5A1 INSL3 GNRH1 EPPIN DMRT1
20 ovarian cyst 30.8 PRL GNRH1 AMH
21 oligospermia 30.8 PRL EPPIN AR AMH
22 acute cystitis 30.8 INS H2AC18 EPRS1
23 hypoactive sexual desire disorder 30.8 SHBG PRL
24 46 xx gonadal dysgenesis 30.7 NR5A1 LHCGR EPRS1 AMH
25 46,xx sex reversal 1 30.7 SOX9 NR5A1 NR0B1
26 amenorrhea 30.6 WNT4 SHBG PRL NR5A1 LHCGR INS
27 anorchia 30.6 RXFP2 NR5A1 INSL3
28 turner syndrome 30.6 SHOX SHBG PRL NR0B1 INS AR
29 46,xy partial gonadal dysgenesis 30.6 SOX9 NR5A1 NR0B1 DHH
30 pseudohermaphroditism 30.6 NR5A1 NR0B1 LHCGR INSL3 EPPIN CYP17A1
31 androgen insensitivity, partial 30.6 SHBG AR
32 nonsyndromic disorders of testicular development 30.6 WNT4 NR5A1 NR0B1 DMRT1 DHH
33 infertility 30.6 SHBG RXFP2 PRL NR5A1 LHCGR INSL3
34 luteoma 30.5 SHBG GNRH1 EPPIN
35 testicular torsion 30.5 RXFP2 INSL3 EPPIN AMH
36 premature menopause 30.5 GNRH1 EPPIN AMH
37 45,x/46,xy mixed gonadal dysgenesis 30.5 WNT4 NR0B1 DMRT1 DHH AMH
38 sexual disorder 30.5 SHBG PRL INS H2AC18 GNRH1 AR
39 suppression of tumorigenicity 12 30.4 H2AC18 GNRH1 CYP17A1 AR
40 leydig cell tumor 30.3 NR5A1 NR0B1 LHCGR INSL3 GNRH1 CYP17A1
41 wilms tumor 1 30.3 WNT4 SOX9 NR5A1 NR0B1 H2AC18 EPPIN
42 hyperandrogenism 30.3 WNT4 SHBG PRL INSL3 INS GNRH1
43 impotence 30.2 SHBG PRL INS GNRH1 EPPIN AR
44 polycystic ovary syndrome 30.2 SHBG PRL INS GNRH1 CYP17A1 AR
45 psychosexual disorder 30.2 SHBG PRL
46 testicular disease 30.1 RXFP2 INSL3 H2AC18 GNRH1 EPPIN DMRT1
47 cryptorchidism, unilateral or bilateral 30.1 SOX9 SHBG RXFP2 PRL NR5A1 NR0B1
48 hypogonadotropic hypogonadism 30.0 SHBG PRL NR5A1 NR0B1 LHCGR INSL3
49 teratoma 30.0 INS DMRT1 AMH
50 premature ovarian failure 1 29.6 WNT4 SOX9 SHOX SHBG PRL NR5A1

Graphical network of the top 20 diseases related to Disorders of Sexual Development:



Diseases related to Disorders of Sexual Development

Symptoms & Phenotypes for Disorders of Sexual Development

GenomeRNAi Phenotypes related to Disorders of Sexual Development according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-3 9.36 DHH
2 Decreased viability GR00240-S-1 9.36 EPRS1
3 Decreased viability GR00249-S 9.36 CYP17A1 NR0B1 SOX9
4 Decreased viability GR00381-A-1 9.36 EPPIN
5 Decreased viability GR00386-A-1 9.36 NR5A1
6 Decreased viability GR00402-S-2 9.36 EPRS1 LHCGR NR5A1 SOX9

MGI Mouse Phenotypes related to Disorders of Sexual Development:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.17 AMH AR DHH DMRT1 GNRH1 INS
2 homeostasis/metabolism MP:0005376 10.07 AMH AR CYP17A1 DHH EPRS1 GNRH1
3 reproductive system MP:0005389 9.83 AMH AR CYP17A1 DHH DMRT1 GNRH1
4 renal/urinary system MP:0005367 9.7 AR GNRH1 INS LHCGR RXFP2 SOX9
5 skeleton MP:0005390 9.28 AR CYP17A1 EPRS1 GNRH1 INS INSL3

Drugs & Therapeutics for Disorders of Sexual Development

Drugs for Disorders of Sexual Development (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Follicle Stimulating Hormone Phase 4
2 Chorionic Gonadotropin Phase 4
3
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754
4
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
5 Hormone Antagonists Phase 1
6 Hydrocortisone 17-butyrate 21-propionate Phase 1
7 glucocorticoids Phase 1
8 Hydrocortisone-17-butyrate Phase 1
9 Hydrocortisone hemisuccinate Phase 1
10 Anti-Inflammatory Agents Phase 1
11 Psychotropic Drugs
12 Androgens
13 Anesthetics
14 Hormones

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Study on the Efficacy and Safety of Pulsatile Gonadotropin Releasing Hormone Pump Treatment in Patients With Idiopathic Hypogonadotropic Hypogonadism Unknown status NCT02310074 Phase 4 Pulsatile Gonadotropin Releasing Hormone;Human chorionic gonadotropin;Urinary Follicle-Stimulating Hormone
2 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
3 A Phase 1, Open-Label, Single-Dose, Sequential Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of NBI-77860 in Adolescent Females With Congenital Adrenal Hyperplasia Withdrawn NCT02349503 Phase 1 NBI-77860;NBI-77860;NBI-77860
4 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
5 Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654
6 Assessment of Quality of Global and Sexual Life and Impact of Surgical and Non Surgical Vaginal Aplasia in Patients With a Rokitansky Syndrome Unknown status NCT01911884
7 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
8 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
9 Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development Recruiting NCT03283852
10 Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Disorders of Sex Development (DSD) and Hypospadias Recruiting NCT03102554
11 Uterus Transplantation From a Multi-organ Donor: A Prospective Trial Recruiting NCT03252795
12 Long Term Follow-up for Hypospadias. Hypospadias KOK Recruiting NCT04142632
13 Feasibility Study of Uterine Transplantation From Living Donors in Terms of Efficacy and Safety in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) Recruiting NCT03689842
14 Using Anogenital Distance to Determinate Fetal Gender Beetween 18 et 41 Weeks of Gestation. Recruiting NCT03898440
15 Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser Recruiting NCT02967822
16 Surgical Evaluation Of Using The Inner Surface Of The Prepuce In Feminizing Genitoplasty In Cases Of Verilized Females With Congenital Adrenal Hyperplasia Recruiting NCT03897504
17 COPENHAGEN Minipuberty Study Active, not recruiting NCT02784184
18 Evaluation of the Outcomes of Feminizing Genitoplasty in Children With Disorders of Sex Development Not yet recruiting NCT04195490
19 Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development Withdrawn NCT00485186
20 Measurements of the Fetal Clitoris by 2D Ultrasound Withdrawn NCT01011400

Search NIH Clinical Center for Disorders of Sexual Development

Cochrane evidence based reviews: disorders of sex development

Genetic Tests for Disorders of Sexual Development

Anatomical Context for Disorders of Sexual Development

MalaCards organs/tissues related to Disorders of Sexual Development:

40
Testes, Prostate, Testis, Uterus, Ovary, Bone, Bone Marrow

Publications for Disorders of Sexual Development

Articles related to Disorders of Sexual Development:

(show top 50) (show all 571)
# Title Authors PMID Year
1
A missense mutation in NR5A1 causing female to male sex reversal: A case report. 61
32271476 2020
2
Application of droplet digital PCR in diagnosing of X monosomy in mares. 61
31793061 2020
3
A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene 61
31208161 2020
4
Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study. 61
32449406 2020
5
Disorders of sexual development with XY karyotype and female phenotype: clinical findings and genetic background in a cohort from a single centre. 61
32378143 2020
6
The lack of HSD17B3 in male mice results in disturbed Leydig cell maturation and endocrine imbalance akin to humans with HSD17B3 deficiency. 61
32190925 2020
7
Haematological chimerism masquerading as disorder of sex development. 61
31943282 2020
8
Fetal Sex Results of Noninvasive Prenatal Testing and Differences With Ultrasonography. 61
32282607 2020
9
Single Port and Multiport Approaches for Robotic Vaginoplasty With the Davydov Technique. 61
31904396 2020
10
X chromosome aneuploidy and micronuclei in fertile mares. 61
32086049 2020
11
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype. 61
32060549 2020
12
Prostatic Metaplasia of the Vagina and Uterine Cervix: An Androgen-associated Glandular Lesion of Surface Squamous Epithelium. 61
32282346 2020
13
17β-hydroxysteroid dehydrogenase type 3 deficiency: female sex assignment and follow-up. 61
32297288 2020
14
Disorder of sex development with germ cell tumors: Which is uncovered first? 61
32020769 2020
15
Mental health outcomes among individuals with 46,XY disorders of sex development: A systematic review. 61
32133887 2020
16
5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela. 61
31613402 2020
17
Testicular disorder of sexual development with cryptorchidism, penile hypoplasia and hypospadias in a giraffe (Giraffa camelopardalis giraffa). 61
32242422 2020
18
P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships. 61
31825489 2020
19
Disorder of Sex Development: A Case of Late-Diagnosed Ovotestis and Its Postsurgical Follow-up. 61
32224245 2020
20
Diagnosis and treatment of the intra-abdominal gonad in the pediatric population: Testes, ovaries, dysgenetic gonads, streaks, and ovotestes. 61
32164982 2020
21
Late-onset vanishing testis-like syndrome in a 38,XX/38,XY agonadic pig (Sus scrofa). 61
31679558 2020
22
Proximal Hypospadias: Isolated Genital Condition or Marker of More? 61
32091304 2020
23
Clinical, cytogenetic and molecular genetic characterization of a tandem fusion translocation in a male Holstein cattle with congenital hypospadias and a ventricular septal defect. 61
31923267 2020
24
Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach. 61
31998049 2020
25
Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility. 61
31787151 2020
26
Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis. 61
31905442 2019
27
Male patient 46,XX SRY-negative and unambiguous genitalia: A case report 61
31860174 2019
28
Gonadoblastoma: origin and outcome. 61
31805291 2019
29
Atypical Presentation of Swyer Syndrome. 61
31356871 2019
30
Child with '46, XX' disorder of sex development: clues to diagnose aromatase deficiency. 61
31801784 2019
31
[Disorders of sex development 46 XY and bilateral metachronous wilms tumor in a child with mutation in exon 7 of WT1 gene]. 61
32003178 2019
32
Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia. 61
31344365 2019
33
EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION. 61
31967076 2019
34
Classic and "Dissecting" Gonadoblastoma in a Phenotypic Girl With a 46, XX Peripheral Karyotype and No Evidence of a Disorder of Sex Development. 61
30252730 2019
35
Persistent Mü̈llerian duct syndrome in a beluga whale Delphinapterus leucas. 61
31724560 2019
36
Technical note: Droplet digital PCR as a new molecular method for a simple and reliable diagnosis of freemartinism in cattle. 61
31447157 2019
37
A novel SRY gene mutation c.266 A>T (p.E89V) in a 46,XY complete gonadal dysgenesis patient. 61
31361042 2019
38
Healthcare transition for patients with differences of sexual development and complex urogenital conditions. 61
31668293 2019
39
Autologous buccal mucosa graft for primary and secondary reconstruction of vaginal anomalies. 61
31668290 2019
40
Neurofibromatosis Masquerading as Disorder of Sex Development. 61
31803604 2019
41
A cloacal anomaly is not a disorder of sex development. 61
31256297 2019
42
Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency. 61
31178538 2019
43
A duplication upstream of SOX9 associated with SRY negative 46,XX ovotesticular disorder of sex development: A case report 61
31476840 2019
44
[Early correction of hypospadias in girl with a disorder of sex development. clinical case]. 61
31535812 2019
45
Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion. 61
30240710 2019
46
Detailed clinical manifestations at onset and prognosis of neonatal-onset Denys-Drash syndrome and congenital nephrotic syndrome of the Finnish type. 61
30963316 2019
47
Compound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development. 61
31167162 2019
48
Mental health status of individuals with sexual development disorders: A review. 61
31133504 2019
49
Voice dissatisfaction in individuals with a disorder of sex development. 61
31026085 2019
50
Ovotesticular Disorder of Sex Development: A Rare Case of Lateral Subtype 45X/46XY kariotype Diagnosed in Adulthood. 61
31005658 2019

Variations for Disorders of Sexual Development

Copy number variations for Disorders of Sexual Development from CNVD:

7 (show all 37)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13403 1 1 2300000 Loss Disorders of sex development
2 45069 10 6700000 12300000 Gain Disorders of sex development
3 53565 11 31000000 36400000 Deletion Disorders of sex development
4 61487 12 1 14800000 Loss Disorders of sex development
5 69082 12 5300000 12600000 Loss Disorders of sex development
6 94767 15 70400000 76100000 Deletion Disorders of sex development
7 99613 16 27600000 34400000 Loss Disorders of sex development
8 99626 16 27600000 38200000 Loss Disorders of sex development
9 106266 16 87200000 88827254 Gain Disorders of sex development
10 116517 17 67628755 67634155 Deletion,duplication SOX9 Disorders of sex development
11 116817 17 70117160 70122552 Copy number SOX9 Disorders of sex development
12 127259 19 30200000 40300000 Loss Disorders of sex development
13 149722 2 91200000 148400000 Loss Disorders of sex development
14 160818 22 16300000 24300000 Deletion,duplication Disorders of sex development
15 164421 22 36698264 36713375 Duplication SOX10 Disorders of sex development
16 169168 3 138663066 138665982 Copy number FOXL2 Disorders of sex development
17 169335 3 140145755 140148491 Deletion FOXL2 Disorders of sex development
18 184843 4 182600000 191273063 Gain Disorders of sex development
19 191463 5 1 18500000 Gain Disorders of sex development
20 202448 5 8200000 15100000 Gain Disorders of sex development
21 217055 7 1 2100000 Gain Disorders of sex development
22 225333 7 4500000 7200000 Loss Disorders of sex development
23 230738 8 1 16700000 Loss Disorders of sex development
24 232363 8 11571876 11654918 Deletion GATA4 Disorders of sex development
25 237246 8 2200000 6200000 Gain Disorders of sex development
26 237468 8 23300000 66100000 Loss Disorders of sex development
27 244859 9 1 14100000 Loss Disorders of sex development
28 244899 9 1 2200000 Loss Disorders of sex development
29 244981 9 1 9000000 Deletion Disorders of sex development
30 244991 9 1 9000000 Loss Disorders of sex development
31 247197 9 129300000 140273252 Deletion LMX1B Disorders of sex development
32 247198 9 129300000 140273252 Deletion NR5A1 Disorders of sex development
33 259643 X 139412817 139414891 Deletion,duplication SOX3 Disorders of sex development
34 260237 X 146900000 154913754 Gain Disorders of sex development
35 260238 X 146900000 154913754 Gain Disorders of sex development
36 262028 X 29400000 31500000 Deletion,duplication NR0B1 Disorders of sex development
37 264431 X 65100000 67700000 Gain Disorders of sex development

Expression for Disorders of Sexual Development

Search GEO for disease gene expression data for Disorders of Sexual Development.

Pathways for Disorders of Sexual Development

Pathways related to Disorders of Sexual Development according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 WNT4 NR5A1 NR0B1 INS CYP17A1
2
Show member pathways
12.12 PRL LHCGR INS CYP17A1
3 11.48 WNT4 SOX9 INS
4
Show member pathways
11.29 NR5A1 NR0B1 AR
5 10.84 LHCGR INS CYP17A1
6 10.37 LHCGR GNRH1
7 10.05 SHBG GNRH1 AR

GO Terms for Disorders of Sexual Development

Cellular components related to Disorders of Sexual Development according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 WNT4 PRL INSL3 INS GNRH1 EPPIN
2 extracellular region GO:0005576 9.61 WNT4 SHBG PRL INSL3 INS GNRH1
3 nuclear chromatin GO:0000790 9.17 SOX9 SHOX NR5A1 NR0B1 H2AC18 DMRT1

Biological processes related to Disorders of Sexual Development according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.09 WNT4 SOX9 NR5A1 NR0B1 DMRT1 AMH
2 positive regulation of gene expression GO:0010628 9.97 SOX9 NR5A1 INS AR AMH
3 spermatogenesis GO:0007283 9.97 SOX9 NR0B1 INSL3 DMRT1 AR
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.84 SOX9 NR5A1 NR0B1 AR
5 cell-cell signaling GO:0007267 9.8 INSL3 INS GNRH1 DHH AR AMH
6 steroid hormone mediated signaling pathway GO:0043401 9.72 NR5A1 NR0B1 AR
7 hormone-mediated signaling pathway GO:0009755 9.7 RXFP2 NR5A1 LHCGR
8 intracellular receptor signaling pathway GO:0030522 9.69 NR5A1 NR0B1 AR
9 adrenal gland development GO:0030325 9.63 WNT4 NR5A1 NR0B1
10 hormone metabolic process GO:0042445 9.61 WNT4 NR5A1
11 Leydig cell differentiation GO:0033327 9.61 NR0B1 DHH AR
12 oocyte development GO:0048599 9.6 WNT4 DMRT1
13 gonad development GO:0008406 9.59 NR0B1 AMH
14 Sertoli cell development GO:0060009 9.58 SOX9 DMRT1
15 positive regulation of male gonad development GO:2000020 9.58 SOX9 NR5A1 DMRT1
16 regulation of steroid biosynthetic process GO:0050810 9.56 NR5A1 DHH
17 male gonad development GO:0008584 9.56 WNT4 SOX9 RXFP2 NR5A1 NR0B1 LHCGR
18 sex determination GO:0007530 9.54 NR5A1 NR0B1 AMH
19 renal vesicle induction GO:0072034 9.49 WNT4 SOX9
20 tertiary branching involved in mammary gland duct morphogenesis GO:0060748 9.48 WNT4 AR
21 sex differentiation GO:0007548 9.46 WNT4 DMRT1 CYP17A1 AMH
22 Sertoli cell differentiation GO:0060008 9.43 SOX9 NR0B1 DMRT1
23 male sex determination GO:0030238 9.1 SOX9 NR5A1 NR0B1 GNRH1 DMRT1 DHH

Molecular functions related to Disorders of Sexual Development according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.88 SOX9 SHOX NR5A1 NR0B1 DMRT1 AR
2 sequence-specific DNA binding GO:0043565 9.8 SOX9 SHOX NR5A1 NR0B1 DMRT1 AR
3 steroid hormone receptor activity GO:0003707 9.43 NR5A1 NR0B1 AR
4 protein-hormone receptor activity GO:0016500 9.37 RXFP2 LHCGR
5 nuclear receptor activity GO:0004879 9.33 NR5A1 NR0B1 AR
6 hormone activity GO:0005179 9.02 PRL INSL3 INS GNRH1 AMH
7 androgen binding GO:0005497 8.96 SHBG AR

Sources for Disorders of Sexual 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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