MCID: SXD002
MIFTS: 49

Sex Development Disorder

Categories: Endocrine diseases

Aliases & Classifications for Sex Development Disorder

MalaCards integrated aliases for Sex Development Disorder:

Name: Sex Development Disorder 12 15
Disorders of Sex Development 45
Sex Differentiation Disease 12

Classifications:



External Ids:

Disease Ontology 12 DOID:1923
MeSH 45 D012734
UMLS 74 C0036875

Summaries for Sex Development Disorder

MalaCards based summary : Sex Development Disorder, also known as disorders of sex development, is related to aromatase deficiency and mixed gonadal dysgenesis. An important gene associated with Sex Development Disorder is SHBG (Sex Hormone Binding Globulin), and among its related pathways/superpathways are Cytochrome P450 - arranged by substrate type and Aldosterone synthesis and secretion. The drugs Menotropins and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include ovary, bone and brain, and related phenotypes are endocrine/exocrine gland and homeostasis/metabolism

Wikipedia : 77 Disorders of sex development (DSD) are medical conditions involving the reproductive system. More... more...

Related Diseases for Sex Development Disorder

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

(show top 50) (show all 182)
# Related Disease Score Top Affiliating Genes
1 aromatase deficiency 32.8 CYP19A1 GNRH1 INS
2 mixed gonadal dysgenesis 32.2 AMH AMHR2
3 androgen insensitivity, partial 32.0 AR CYP19A1 SHBG
4 androgen insensitivity syndrome 31.9 AR SHBG SRD5A2
5 pseudovaginal perineoscrotal hypospadias 31.9 AR CYP17A1 GNRH1 SRD5A2
6 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 31.7 CYP11A1 CYP17A1 CYP21A2 POMC
7 complete androgen insensitivity syndrome 30.0 AR CYP19A1 SHBG
8 gynecomastia 30.0 AR CYP19A1 HSD17B3 POMC PRL SHBG
9 luteoma 29.8 CYP19A1 CYP21A2
10 hypospadias 29.6 AR CYP11A1 CYP17A1 HSD17B3 SRD5A2
11 lipoid congenital adrenal hyperplasia 29.5 CYP11A1 CYP17A1 CYP19A1 CYP21A2 POMC
12 amenorrhea 29.3 GNRH1 POMC PRL SHBG
13 infertility 29.2 CYP19A1 GNRH1 PRL
14 cryptorchidism, unilateral or bilateral 28.9 AMH AMHR2 AR CYP19A1 GNRH1 SHBG
15 premature ovarian failure 1 28.3 AMH CYP11A1 CYP19A1 GNRH1 PRL SHBG
16 gonadal disease 27.8 AMH AR CYP19A1 GNRH1 INS POMC
17 46,xx sex reversal 1 12.4
18 nonsyndromic 46,xx testicular disorders of sex development 12.4
19 dysmorphism-short stature-deafness-disorder of sex development syndrome 12.4
20 46,xx disorder of sex development-anorectal anomalies syndrome 12.4
21 46,xy ovotesticular disorder of sex development 12.4
22 46,xy sex reversal 3 11.9
23 46,xy sex reversal 5 11.9
24 leydig cell hypoplasia, type i 11.8
25 46,xy sex reversal 8 11.7
26 46,xx sex reversal 2 11.6
27 hypogonadotropic hypogonadism 23 without anosmia 11.6
28 leydig cell hypoplasia 11.6
29 chondrodysplasia-pseudohermaphroditism syndrome 11.5
30 denys-drash syndrome 11.3
31 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.3
32 pseudohermaphroditism, female, with skeletal anomalies 11.3
33 17-beta hydroxysteroid dehydrogenase iii deficiency 11.3
34 46,xy sex reversal 2 11.3
35 male pseudohermaphroditism/mental retardation syndrome, verloes type 11.3
36 pontocerebellar hypoplasia, type 7 11.3
37 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.3
38 mullerian aplasia and hyperandrogenism 10.9
39 46,xy sex reversal 7 10.9
40 46,xy sex reversal 6 10.9
41 testicular anomalies with or without congenital heart disease 10.9
42 46,xy sex reversal 9 10.9
43 46,xy sex reversal 10 10.9
44 46, xy disorders of sexual development 10.9
45 anorchia 10.9
46 hermaphroditism 10.4 AR SRD5A2
47 47, xxy 10.4 AR SHBG
48 noma 10.4 INS POMC
49 scleredema adultorum 10.3 INS POMC
50 persistent mullerian duct syndrome, types i and ii 10.3 AMH AMHR2

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



Diseases related to Sex Development Disorder

Symptoms & Phenotypes for Sex Development Disorder

MGI Mouse Phenotypes related to Sex Development Disorder:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.1 AMH AMHR2 AR CYP11A1 CYP19A1 GNRH1
2 homeostasis/metabolism MP:0005376 10.07 AMH AMHR2 AR CYP11A1 CYP17A1 CYP19A1
3 integument MP:0010771 9.87 AMHR2 AR CYP19A1 GNRH1 INS POMC
4 liver/biliary system MP:0005370 9.8 AR CYP11A1 CYP19A1 GNRH1 INS POMC
5 neoplasm MP:0002006 9.63 AMH AMHR2 AR GNRH1 POMC PRL
6 renal/urinary system MP:0005367 9.43 AMHR2 AR CYP19A1 GNRH1 INS POMC
7 reproductive system MP:0005389 9.32 AMH AMHR2 AR CYP11A1 CYP17A1 CYP19A1

Drugs & Therapeutics for Sex Development Disorder

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

(show top 50) (show all 230)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-28-2 5757
3
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
4
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 28014-46-2
5
Cyproterone Acetate Approved, Investigational Phase 4,Not Applicable 427-51-0
6
Drospirenone Approved Phase 4,Not Applicable 67392-87-4 68873
7
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 57-83-0 5994
8
Hydrocortisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-23-7 5754
9
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 50-02-2 5743
10
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 1177-87-3
11
Epinephrine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 51-43-4 5816
12
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 50-03-3
13
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3 53-03-2 5865
14
Racepinephrine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 329-65-7 838
15
Zinc Approved, Investigational Phase 4,Phase 2 7440-66-6 32051
16
leucovorin Approved Phase 4,Not Applicable 58-05-9 6006 143
17
Metformin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 657-24-9 14219 4091
18
Testosterone Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-22-0, 481-30-1 6013 10204
19
Testosterone enanthate Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 315-37-7 9416
20
Testosterone undecanoate Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 5949-44-0
21
Methyltestosterone Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-18-4 6010
22
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
23
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3 2921-57-5
24
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3 302-25-0
25
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755
26
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Not Applicable 59-30-3 6037
27
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 7440-70-2 271
28
Cortisone Experimental Phase 4,Phase 2 53-06-5 222786
29
Prednisolone hemisuccinate Experimental Phase 4,Phase 3 2920-86-7
30 Chorionic Gonadotropin Phase 4,Not Applicable
31 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
32 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
33 Follicle Stimulating Hormone Phase 4,Phase 2,Not Applicable
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
35 Fertility Agents Phase 4,Phase 3,Phase 2,Early Phase 1
36 Androgens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
37 Antioxidants Phase 4,Phase 3,Phase 2,Not Applicable
38 Drospirenone and ethinyl estradiol combination Phase 4,Not Applicable
39 Mineralocorticoids Phase 4,Phase 2,Early Phase 1,Not Applicable
40 Natriuretic Agents Phase 4,Early Phase 1,Not Applicable
41 Contraceptive Agents, Male Phase 4,Phase 3,Not Applicable
42 Contraceptive Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
43 Contraceptives, Oral Phase 4,Phase 3,Phase 2,Not Applicable
44 Mineralocorticoid Receptor Antagonists Phase 4,Early Phase 1,Not Applicable
45 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
46
Cyproterone Phase 4,Not Applicable 2098-66-0 5284537
47 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable
49 Hemostatics Phase 4,Not Applicable
50 Androgen Antagonists Phase 4,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 262)
# Name Status NCT ID Phase Drugs
1 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 Human Menopausal Gonadotropin Combining With Human Chorionic Gonadotropin Treat Congenital Hypogonadotropic Hypogonadism Unknown status NCT02880280 Phase 4 Human Menopausal Gonadotropin;Human Chorionic Gonadotropin
3 Hemocoagulation and Lipoperoxidation in Women Using Combined Oral Contraceptives, Correction by Antioxidants Unknown status NCT02027337 Phase 4 20 mcg ethinylestradiol /3 mg drospirenone;20 mcg ethinylestradiol/3 mg drospirenone and Selmevit;30 mcg ethinylestradiol/3 mg drospirenone;30 mcg ethinylestradiol/3 mg drospirenone and Selmevit;35 mcg ethinylestradiol/2 mg cyproterone;35 mcg ethinylestradiol/2 mg cyproterone and Selmevit
4 Ethinyl Estradiol and Cyproterone Acetate in Irregular Menstruation Unknown status NCT01103518 Phase 4 Ethinyl Estradiol + Cyproterone acetate
5 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
6 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
7 Sequential Therapy for Hypogonadotropic Hypogonadism Completed NCT01403532 Phase 4 Traditional intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH;Sequential intervention for HH using HCG and FSH plus zinc
8 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4 r-hGH
9 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Completed NCT03015909 Phase 4 Somatropin
10 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
11 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
12 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
13 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
14 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
15 Low Dose OC Therapy in Women With Polycystic Ovary Syndrome (PCOS): Impact of BMI on Hyperandrogenism Completed NCT01360996 Phase 4 3 mg DRSP/20 μg EE
16 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
17 Effects of Metformin vs Oral Contraceptives on CV Risk Markers in PCOS Completed NCT00428311 Phase 4 Metformin;Ethynyl-estradiol plus cyproterone acetate
18 TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY Recruiting NCT03325647 Phase 4 Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution;Placebo injectable saline
19 Ovarian Response to Recombinant Follicle Stimulating Hormone in Women With PCOS Recruiting NCT03252223 Phase 4 Recombinant Follicle Stimulating Hormone
20 Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment Recruiting NCT03760835 Phase 4 Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone);Dual release hydrocortisone (plenadren)
21 Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment Active, not recruiting NCT02408445 Phase 4 testosterone cypionate 200mg/ml
22 Efficacy and Safety of Long Term Use of hCG or hCG Plus hMG in Males With Isolated Hypogonadotropic Hypogonadism (IHH) Not yet recruiting NCT03687606 Phase 4 Human Chorionic Gonadotropin;human menopausal gonadotropin
23 COrticosteroid in Congenital Adrenal Hyperplasia Unknown status NCT02552251 Phase 2, Phase 3
24 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
25 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Completed NCT01813630 Phase 3 DA-3002;Genotropin®
26 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
27 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
28 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
29 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
30 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
31 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
32 Effect of a Commonly Used Antibiotic, Doxycycline, in Women With Polycystic Ovarian Syndrome Completed NCT01788215 Phase 3 doxycycline
33 Androgen for Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
34 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
35 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
36 The Effect of Metformin Added to Clomiphene Citrate on Pregnancy Rates in Hyperandrogenic, Chronic Oligoovulatory or Anovulatory Women Completed NCT00413179 Phase 3 Metformin;Clomiphene citrate;Placebo
37 Comparison of Chronocort® With Standard Glucocorticoid Therapy in Patients With Congenital Adrenal Hyperplasia Completed NCT02716818 Phase 3 Chronocort®;standard glucocorticoid therapy
38 Uterus Transplantation From Live Donors and From Deceased Donors - Clinical Study Recruiting NCT03277430 Phase 3 Tacrolimus
39 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
40 A Study of the Efficacy, Safety and Tolerability of Chronocort in Treating CAH Recruiting NCT03062280 Phase 3 Hydrocortisone
41 Open-label Comparison of Chronocort® Versus Standard Glucocorticoid Replacement Therapy Suspended NCT03532022 Phase 3 Chronocort®;Standard Care
42 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
43 Hormone Replacement for Premature Ovarian Insufficiency Withdrawn NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
44 Human Umbilical Cord Mesenchymal Stem Cells (HUC-MSCs) Transplantation in Women With Primary Ovarian Insufficiency (POI) Unknown status NCT03033277 Phase 1, Phase 2
45 Ultradian Subcutaneous Hydrocortisone Infusion in Addison Disease and Congenital Adrenal Hyperplasia Unknown status NCT02096510 Phase 1, Phase 2 Solu-Cortef;Cortef
46 Continuous Subcutaneous Hydrocortisone Infusion in Congenital Adrenal Hyperplasia Unknown status NCT01771328 Phase 2 Hydrocortisone;Cortisone acetate
47 Chinese Medicine(Hu Yang Yang Kun Formula) for Primary Ovarian Insufficiency Completed NCT02794948 Phase 1, Phase 2
48 Comparison of Cortisol Pump With Standard Treatment for Congenital Adrenal Hyperplasia Completed NCT01859312 Phase 2 Hydrocortisone (Solucortef)
49 Phase II Randomized Study of Leuprolide Vs Oral Contraceptive Therapy Vs Leuprolide and Oral Contraceptive Therapy for Ovarian Hyperandrogenism Completed NCT00004763 Phase 2 leuprolide;Ethinyl estradiol/norethindrone
50 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone

Search NIH Clinical Center for Sex Development Disorder

Cochrane evidence based reviews: disorders of sex development

Genetic Tests for Sex Development Disorder

Anatomical Context for Sex Development Disorder

MalaCards organs/tissues related to Sex Development Disorder:

42
Ovary, Bone, Brain, Uterus, Cortex, Heart, Eye

Publications for Sex Development Disorder

Articles related to Sex Development Disorder:

(show top 50) (show all 360)
# Title Authors Year
1
Women With Amenorrhea and Men With Menstruation: The Qualitative Experiences of People With Disorders of Sex Development in Nigeria. ( 30855517 )
2019
2
Surgical management of hypospadias in cases with concomitant disorders of sex development. ( 30762107 )
2019
3
Simpson-Golabi-Behmel syndrome with 46,XY disorders of sex development: A case report. ( 30667571 )
2019
4
Ovotesticular Disorders of Sex Development: Improvement in Spermatogonia after Removal of Ovary and Müllerian Structures. ( 30248506 )
2019
5
Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein. ( 30608580 )
2019
6
Clinical and genetic analysis in males with 46,XX disorders of sex development: A reproductive centre experience of 144 cases. ( 30623467 )
2019
7
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). ( 30668521 )
2019
8
Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development. ( 30815925 )
2019
9
Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome. ( 30337249 )
2018
10
Long-term Healthcare of People with Disorders of Sex Development: Predictors of Pubertal Outcomes of Partial Androgen Insensitivity Syndrome - Authors' Reply. ( 30385230 )
2018
11
Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion. ( 30240710 )
2018
12
Incidence and diagnoses of disorders of sex development in proximal hypospadias. ( 30224237 )
2018
13
Improving Laboratory Assessment in Disorders of Sex Development through a Multidisciplinary Network. ( 29339667 )
2018
14
Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model. ( 29378665 )
2018
15
Disorders of sex development: a study of 194 cases. ( 29386228 )
2018
16
Ileal vaginoplasty as vaginal reconstruction in transgender women and patients with disorders of sex development: an international, multicentre, retrospective study on surgical characteristics and outcomes. ( 29388351 )
2018
17
Prenatal testosterone and theory of mind development: Findings from disorders of sex development. ( 29398092 )
2018
18
Endoscopy and Laparoscopy in Disorders of Sex Development. ( 29414828 )
2018
19
Health status in 1040 adults with disorders of sex development (DSD): a European multicenter study. ( 29490934 )
2018
20
Disorders of sex development. ( 29503125 )
2018
21
Disorders of sex development: timing of diagnosis and management in a single large tertiary center. ( 29581155 )
2018
22
Parental Perception of Terminology of Disorders of Sex Development in Western Turkey ( 29595517 )
2018
23
Gender Dysphoria and Gender Change in Disorders of Sex Development/Intersex Conditions: Results From the dsd-LIFE Study. ( 29606626 )
2018
24
Body image and self-esteem in disorders of sex development: A European multicenter study. ( 29608076 )
2018
25
Correction: Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development. ( 29637935 )
2018
26
New technologies to uncover the molecular basis of disorders of sex development. ( 29655603 )
2018
27
GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly. ( 29735817 )
2018
28
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations. ( 29935645 )
2018
29
Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop. ( 29936513 )
2018
30
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet". ( 29973379 )
2018
31
Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development. ( 30007989 )
2018
32
Disorders of Sex Development/Intersex: Gaps in Psychosocial Care for Children. ( 30045929 )
2018
33
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer. ( 30067310 )
2018
34
Disorders of sex development in cats with different complements of sex chromosomes. ( 30099782 )
2018
35
Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development. ( 30103258 )
2018
36
Childhood Sex-Typed Behavior and Gender Change in Individuals with 46,XY and 46,XX Disorders of Sex Development: An Iranian Multicenter Study. ( 30128981 )
2018
37
Experiences of people living with disorders of sex development and sex reassignment: Meta-ethnography of qualitative studies. ( 30132959 )
2018
38
A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development. ( 30214739 )
2018
39
Re: Attitudes towards "Disorders of Sex Development" Nomenclature among Affected Individuals. ( 30227558 )
2018
40
Is It Beneficial to Patients to Include Congenital Adrenal Hyperplasia (CAH) Among the Disorders of Sex Development (DSD)? ( 30483487 )
2018
41
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’ ( 30299888 )
2018
42
Does Patient-centered Care Change Genital Surgery Decisions? The Strategic Use of Clinical Uncertainty in Disorders of Sex Development Clinics. ( 30303019 )
2018
43
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients. ( 30350900 )
2018
44
A Search for Disorders of Sex Development among Infertile Men. ( 30372699 )
2018
45
Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development. ( 30388241 )
2018
46
Ethical issues with early genitoplasty in children with disorders of sex development. ( 30507698 )
2018
47
Genetic evaluation of disorders of sex development: current practice and novel gene discovery. ( 30507699 )
2018
48
Navigating Surgical Decision Making in Disorders of Sex Development (DSD). ( 30510925 )
2018
49
Vaginoplasty and creating labia minora in children with disorders of sex development. ( 30547360 )
2018
50
Controversies on Timing of Sex Assignment and Surgery in Individuals With Disorders of Sex Development: A Perspective. ( 30687685 )
2018

Variations for Sex Development Disorder

Copy number variations for Sex Development Disorder from CNVD:

7 (show all 37)
# CNVD ID Chromosom 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 Sex Development Disorder

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

Pathways for Sex Development Disorder

Pathways related to Sex Development Disorder according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 CYP11A1 CYP17A1 CYP19A1 CYP21A2 POMC SULT2A1
2
Show member pathways
12.7 CYP11A1 CYP17A1 CYP21A2 INS POMC
3 12.29 CYP11A1 CYP17A1 CYP19A1 INS
4 11.67 CYP11A1 CYP21A2 POMC SULT2A1
5
Show member pathways
11.36 CYP17A1 CYP19A1 HSD17B3 SULT2A1
6 11.25 CYP11A1 CYP17A1 CYP19A1 INS
7
Show member pathways
11.25 CYP11A1 CYP17A1 CYP19A1 CYP21A2 HSD17B3 SRD5A2
8
Show member pathways
11.11 CYP11A1 CYP17A1 CYP19A1 CYP21A2 HSD17B3 POMC
9 10.99 CYP11A1 PRL
10 10.8 AR GNRH1 SHBG
11
Show member pathways
10.8 CYP17A1 CYP21A2 HSD17B3 SRD5A2
12 10.52 AMH AMHR2

GO Terms for Sex Development Disorder

Cellular components related to Sex Development Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome lumen GO:0031904 8.62 INS PRL

Biological processes related to Sex Development Disorder according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.95 CYP11A1 CYP17A1 CYP19A1 CYP21A2 HSD17B3 SRD5A2
2 regulation of signaling receptor activity GO:0010469 9.91 AMH GNRH1 INS POMC PRL
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.77 AMH AR INS
4 steroid metabolic process GO:0008202 9.77 CYP11A1 CYP17A1 CYP21A2 SRD5A2 SULT2A1
5 male gonad development GO:0008584 9.73 AMHR2 AR SRD5A2
6 cell-cell signaling GO:0007267 9.73 AMH AR GNRH1 INS POMC SRD5A2
7 androgen biosynthetic process GO:0006702 9.61 CYP17A1 HSD17B3 SRD5A2
8 female gonad development GO:0008585 9.6 AMHR2 CYP19A1
9 male genitalia development GO:0030539 9.58 HSD17B3 SRD5A2
10 androgen metabolic process GO:0008209 9.58 CYP19A1 SRD5A2
11 glucocorticoid biosynthetic process GO:0006704 9.58 CYP11A1 CYP17A1 CYP21A2
12 regulation of protein localization to plasma membrane GO:1903076 9.57 AR INS
13 prostate gland growth GO:0060736 9.54 AR CYP19A1
14 testosterone biosynthetic process GO:0061370 9.5 CYP19A1 HSD17B3 SRD5A2
15 Mullerian duct regression GO:0001880 9.49 AMH AMHR2
16 response to organic cyclic compound GO:0014070 9.46 AMH GNRH1
17 sterol metabolic process GO:0016125 9.46 CYP11A1 CYP17A1 CYP19A1 CYP21A2
18 sex differentiation GO:0007548 9.35 AMH AMHR2 AR CYP17A1 SRD5A2
19 ovulation cycle GO:0042698 9.25 GNRH1
20 female genitalia development GO:0030540 9.22 CYP19A1
21 steroid biosynthetic process GO:0006694 9.1 CYP11A1 CYP17A1 CYP19A1 CYP21A2 HSD17B3 SRD5A2

Molecular functions related to Sex Development Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.67 CYP11A1 CYP17A1 CYP19A1 CYP21A2
2 oxidoreductase activity GO:0016491 9.63 CYP11A1 CYP17A1 CYP19A1 CYP21A2 HSD17B3 SRD5A2
3 iron ion binding GO:0005506 9.62 CYP11A1 CYP17A1 CYP19A1 CYP21A2
4 steroid hydroxylase activity GO:0008395 9.43 CYP19A1 CYP21A2
5 steroid binding GO:0005496 9.43 AR CYP21A2 SHBG
6 androgen binding GO:0005497 9.4 AR SHBG
7 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.26 CYP11A1 CYP17A1 CYP19A1 CYP21A2
8 hormone activity GO:0005179 9.02 AMH GNRH1 INS POMC PRL

Sources for Sex Development Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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