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DSD
MCID: DSR090
MIFTS: 52

Disorder of Sexual Development (DSD)

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases
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Genes Variations Tissues Related diseases Publications Drugs
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Aliases & Classifications for Disorder of Sexual Development

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MalaCards integrated aliases for Disorder of Sexual Development:

Name: Disorder of Sexual Development 11 14
Disorder of Sex Development 58 5 38
Disorders of Sex Development 43 75
Sex Differentiation Disorders 71
Sex Differentiation Disease 11
Sex Development Disorder 11
Dsd 58

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Endocrine diseases Reproductive diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:1923
MeSH 43 D012734
MESH via Orphanet 44 D012734
UMLS via Orphanet 72 C0036875
Orphanet 58 ORPHA90771
UMLS 71 C0036875 C2930619
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Summaries for Disorder of Sexual Development

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Disease Ontology: 11 A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex.

MalaCards based summary: Disorder of Sexual Development, also known as disorder of sex development, is related to leydig cell hypoplasia and 46,xy sex reversal 3. An important gene associated with Disorder of Sexual Development is HSD17B3 (Hydroxysteroid 17-Beta Dehydrogenase 3), and among its related pathways/superpathways are Nervous system development and Signal Transduction. The drugs Methyltestosterone and Testosterone undecanoate have been mentioned in the context of this disorder. Affiliated tissues include uterus, testis and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and endocrine/exocrine gland

Wikipedia: 75 Disorders of sex development (DSDs), also known as differences in sex development, diverse sex... more...
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Related Diseases for Disorder of Sexual Development

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Diseases in the Disorder 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 Disorder of Sexual Development via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 401)
# Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia 33.5 NR5A1 INSL3 HSD17B3 AMH
2 46,xy sex reversal 3 33.1 NR5A1 GATA4
3 17-beta hydroxysteroid dehydrogenase iii deficiency 32.9 SOX9 NR5A1 HSD17B3 AMH
4 denys-drash syndrome 32.7 WT1 SRD5A1 NR5A1
5 androgen insensitivity, partial 32.7 SRD5A1 NR5A1 INSL3 HSD17B3 AMH
6 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 32.6 NR5A1 HSD17B3
7 gonadal dysgenesis 32.5 WT1 SOX9 NR5A1 FOXL2 FGF9 DMRT1
8 46,xy sex reversal 32.4 WT1 WNT4 SOX9 RSPO1 NR5A1 INSL3
9 46,xy sex reversal 9 32.4 WT1 SOX9 NR5A1 GATA4 AMH
10 mullerian aplasia and hyperandrogenism 32.4 WNT4 RSPO1 FOXL2
11 persistent mullerian duct syndrome 32.4 WT1 WNT4 SOX9 RSPO1 NR5A1 INSL3
12 46,xx sex reversal 1 31.6 SRD5A1 SOX9 NR5A1
13 hypospadias 31.5 WT1 SRD5A1 SOX9 NR5A1 INSL3 HSD17B3
14 hermaphroditism 31.3 WNT4 SOX9 RSPO1 NR5A1 FOXL2 DMRT1
15 testicular disease 31.2 INSL3 DMRT1 AMHR2 AMH
16 cryptorchidism, unilateral or bilateral 31.1 WT1 WNT4 SRD5A1 SOX9 RSPO1 NR5A1
17 mixed gonadal dysgenesis 31.1 SRD5A1 SOX9 NR5A1 HSD17B3 DMRT1 AMHR2
18 gonadoblastoma 30.9 WT1 SOX9 NR5A1 FOXL2 DMRT1 AMH
19 premature menopause 30.9 WT1 WNT4 SOX9 NR5A1 INSL3 FOXL2
20 lipoid congenital adrenal hyperplasia 30.9 WNT4 SRD5A1 NR5A1 INSL3 HSD17B3 DMRT1
21 hypogonadotropic hypogonadism 30.9 SOX9 NR5A1 INSL3 HSD17B3 DMRT1 AMHR2
22 46,xx sex reversal 30.9 WT1 WNT4 SOX9 RSPO1 NR5A1 HSD17B3
23 pseudohermaphroditism 30.9 WT1 WNT4 SRD5A1 SOX9 RSPO1 NR5A1
24 campomelic dysplasia 30.9 SOX9 NR5A1 GATA4 FOXL2 DMRT1
25 amenorrhea 30.9 WNT4 NR5A1 FOXL2
26 kallmann syndrome 30.8 NR5A1 MYRF INSL3 AMHR2 AMH
27 freemartinism 30.8 HSD17B3 AMH
28 diaphragmatic hernia, congenital 30.7 WT1 MYRF GATA4
29 complete androgen insensitivity syndrome 30.7 NR5A1 INSL3 HSD17B3 DMRT1 AMH
30 inguinal hernia 30.7 WT1 NR5A1 INSL3 HSD17B3 GATA4 DMRT1
31 androgen insensitivity syndrome 30.7 SRD5A1 NR5A1 INSL3 HSD17B3 DMRT1 AMH
32 45,x/46,xy mixed gonadal dysgenesis 30.7 NR5A1 GATA4 DMRT1 DHH AMH
33 juvenile type testicular granulosa cell tumor 30.7 WT1 NR5A1 FOXL2 AMH
34 46,xy sex reversal 2 30.7 WT1 WNT4 SOX9 NR5A1 FOXL2 FGF9
35 46,xy partial gonadal dysgenesis 30.7 WT1 SOX9 NR5A1 GATA4
36 mayer-rokitansky-kuster-hauser syndrome 30.6 WT1 WNT4 AMHR2 AMH
37 hyperandrogenism 30.6 WNT4 SRD5A1 INSL3 AMH
38 mixed germ cell-sex cord neoplasm 30.6 GATA4 FOXL2 DMRT1
39 wilms tumor 1 30.6 WT1 WNT4 SOX9 NR5A1 GATA4 CTNNB1
40 luteoma 30.6 FOXL2 AMHR2 AMH
41 frasier syndrome 30.6 WT1 SOX9 NR5A1
42 persistent mullerian duct syndrome, types i and ii 30.6 AMHR2 AMH
43 azoospermia 30.6 WT1 NR5A1 INSL3 GATA4 AMH
44 teratoma 30.6 GATA4 DMRT1 CTNNB1 AMH
45 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.6 WT1 NR5A1 DMRT1
46 osteochondrodysplasia 30.5 TBCE SOX9 FGF9 CTNNB1
47 adrenal rest tumor 30.5 INSL3 HSD17B3
48 mixed germ cell cancer 30.5 DMRT1 AMH
49 ovarian disease 30.5 FOXL2 CTNNB1 AMHR2 AMH
50 testicular torsion 30.1 INSL3 AMH

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



Diseases related to Disorder of Sexual Development
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Symptoms & Phenotypes for Disorder of Sexual Development

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

25 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.19 AMH AMHR2 CACNA1A CBX2 CTNNB1 DHH
2 no effect GR00402-S-2 10.19 AMH AMHR2 CACNA1A CBX2 CTNNB1 DHH
3 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.93 GATA4 WT1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-117 9.93 FOXL2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.93 WT1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.93 DHH
7 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.93 GATA4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.93 WT1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.93 WT1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.93 DHH
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.93 WT1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.93 WT1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.93 GATA4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.93 WT1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.93 WT1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.93 DHH
17 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.93 DHH
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.93 WT1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.93 DHH
20 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.93 FOXL2

MGI Mouse Phenotypes related to Disorder of Sexual Development:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.32 AMH AMHR2 CACNA1A CBX2 CTNNB1 DHH
2 growth/size/body region MP:0005378 10.25 AMH AMHR2 CACNA1A CBX2 CTNNB1 FGF9
3 nervous system MP:0003631 10.22 CACNA1A CTNNB1 DHH GATA4 HSD17B3 MYRF
4 normal MP:0002873 10.16 CACNA1A CTNNB1 FGF9 FOXL2 GATA4 NR5A1
5 no phenotypic analysis MP:0003012 10.15 AMH AMHR2 CACNA1A CTNNB1 FOXL2 GATA4
6 cellular MP:0005384 10.13 AMHR2 CACNA1A CBX2 CTNNB1 DMRT1 FGF9
7 reproductive system MP:0005389 10.11 AMH AMHR2 CACNA1A CBX2 CTNNB1 DHH
8 renal/urinary system MP:0005367 10.06 AMHR2 CTNNB1 FGF9 HSD17B3 RSPO1 SOX9
9 muscle MP:0005369 10.03 CACNA1A CTNNB1 FGF9 GATA4 HSD17B3 SOX9
10 respiratory system MP:0005388 9.86 AMHR2 CACNA1A CTNNB1 FGF9 GATA4 SOX9
11 vision/eye MP:0005391 9.61 CACNA1A CBX2 CTNNB1 FGF9 FOXL2 MYRF
12 mortality/aging MP:0010768 9.47 AMHR2 CACNA1A CBX2 CTNNB1 FGF9 FOXL2
Sources

Drugs & Therapeutics for Disorder of Sexual Development

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyltestosterone Approved Phase 3 58-18-4 6010
2
Testosterone undecanoate Approved, Investigational Phase 3 5949-44-0 21873174 65157
3
Testosterone enanthate Approved Phase 3 315-37-7 9416
4
Testosterone Approved, Investigational Phase 3 58-22-0 5408 6013
5 Hormones Phase 3
6 Hormone Antagonists Phase 3
7 Androgens Phase 3
8 Testosterone 17 beta-cypionate Phase 3
9
Nivolumab Approved Phase 2 946414-94-4
10
Ipilimumab Approved Phase 2 477202-00-9
11 Immunoglobulins, Intravenous Phase 2
12 Immunologic Factors Phase 2
13 Immunoglobulins Phase 2
14 Immune Checkpoint Inhibitors Phase 2
15 Antibodies, Monoclonal Phase 2
16 Antibodies Phase 2
17 Antineoplastic Agents, Immunological Phase 2
18
Racepinephrine Approved, Vet_approved Phase 1 51-43-4, 329-65-7 838 5816
19
Hydrocortisone succinate Approved Phase 1 2203-97-6 3643
20
Hydrocortisone acetate Approved, Vet_approved Phase 1 50-03-3
21
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 3640 5754
22 Epinephryl borate Phase 1
23 glucocorticoids Phase 1
24 Anti-Inflammatory Agents Phase 1
25 Hydrocortisone-17-butyrate Phase 1
26 Hydrocortisone 17-butyrate 21-propionate Phase 1
27 Psychotropic Drugs

Interventional clinical trials:

(show all 21)
# Name Status NCT ID Phase Drugs
1 Testosterone Treatment in a Patient With 17β-hydroxysteroid Dehydrogenase Type 3 Deficiency: an N-of-1 Study Not yet recruiting NCT04831099 Phase 3 Testosterone gel;Placebo
2 A Phase II Clinical Trial Evaluating the Efficacy and Safety of Sintilimab for Advanced Rare Cancers (SiARa Cancer Study) - Undifferentiated Pleomorphic Sarcoma (SiARa-UPS) Recruiting NCT05017103 Phase 2
3 Phase II Study of Neoadjuvant Checkpoint Blockade in Patients With Surgically Resectable Undifferentiated Pleomorphic Sarcoma and Dedifferentiated Liposarcoma Active, not recruiting NCT03307616 Phase 2
4 Interval Bolus Delivery of Subcutaneous Hydrocortisone Via Infusion Pump in Children With Congenital Adrenal Hyperplasia Active, not recruiting NCT03718234 Phase 1 Subcutaneous hydrocortisone;Standard glucocorticoid therapy
5 COPENHAGEN Minipuberty Study Unknown status NCT02784184
6 Evaluation of the Outcomes of Feminizing Genitoplasty in Children With Disorders of Sex Development Unknown status NCT04195490
7 Mutation Analysis of 17βhydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654
8 Mutation Analysis of 17α-Hydroxylase Unknown status NCT00172510
9 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
10 Health-related Quality of Life, Mental Health and Psychotherapeutic Considerations for Women Diagnosed With a Disorder of Sexual Development: Congenital Adrenal Hyperplasia Completed NCT00559078
11 Using Anogenital Distance to Determinate Fetal Gender Beetween 18 et 41 Weeks of Gestation. Completed NCT03898440
12 Disorders of Sex Development (DSD) 46.XY Due to Type 2 5-Α Reductase Deficiency in Three Siblings: Case Report From a Low-Resource Setting Completed NCT05449080
13 Utilizing Whole Exome Sequencing and Genomics to Improve Our Understanding of Differences of Sex Development (DSD) and Hypospadias Recruiting NCT03102554
14 Data Collection Study of Pediatric and Adolescent Gynecology Conditions Recruiting NCT04717349
15 Etude de Génétique moléculaire du Syndrome de Mayer-Rokitansky-Kuster-Hauser Recruiting NCT02967822
16 Identifying New Genetic Causes to the Disorders of Growth, Puberty and Sex Development Recruiting NCT03283852
17 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
18 GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age Recruiting NCT04463316
19 Uterus Transplantation From a Multi-organ Donor: A Prospective Trial Recruiting NCT03252795
20 Investigation of Gene Polymorphisms Influencing Steroid Synthesis and Action in Patients With Deficient Steroid Biosynthesis and Disorders of Sex Development Withdrawn NCT00485186
21 Measurements of the Fetal Clitoris by 2D Ultrasound Withdrawn NCT01011400

Search NIH Clinical Center for Disorder of Sexual Development

Cochrane evidence based reviews: disorders of sex development

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Genetic Tests for Disorder of Sexual Development

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Anatomical Context for Disorder of Sexual Development

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Organs/tissues related to Disorder of Sexual Development:

MalaCards : Uterus, Testis, Brain, Testes, Prostate, Bone Marrow, Ovary
Sources

Publications for Disorder of Sexual Development

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Articles related to Disorder of Sexual Development:

(show top 50) (show all 586)
# Title Authors PMID Year
1
GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature 62
34355877 2022
2
Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency. 62
36102299 2022
3
Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement. 62
36424806 2022
4
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature. 62
36026611 2022
5
SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism. 62
36416214 2022
6
Robotic excision of vaginal pouch in ovotesticular disorder of sexual development. 62
36037259 2022
7
Fetal Genotype-Phenotype Sex Discordance: A Case of 5-Alpha-Reductase Deficiency. 62
34251982 2022
8
Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty. 62
36216557 2022
9
Novel homozygous inactivating mutation in the luteinizing hormone receptor gene (LHCGR) associated with 46, XY DSD in a Moroccan family. 62
35670320 2022
10
Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience. 62
36076253 2022
11
[Genetic analysis and pathological features of one 46,XX testicular disorder of sex development cases with prostate germ cell tumor]. 62
36082576 2022
12
Pallister-Hall syndrome, GLI3, and kidney malformation. 62
36165461 2022
13
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients. 62
36077423 2022
14
[Clinical and genetic analysis of a child with disorder of sex development]. 62
35929938 2022
15
The importance of genetic research in cases of severe male factor infertility: A case of 46,XX testicular disorder of sex development. 62
34978171 2022
16
46 XY disorder of sex development (DSD) due to 5 alpha (SRD5A2) deficiency - Experience from a multidisciplinary Pediatric Gender Clinic. 62
35668006 2022
17
Analysis in the influence factors of urethroplasty in DSD. 62
35948888 2022
18
17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review. 62
35170787 2022
19
Oral Methylene Blue Treatment in A Dog with Cytochrome B5 Reductase Deficiency And 78, XX Testicular Disorder of Sex Development. 62
35202847 2022
20
Validation of steroid ratios for random urine by mass spectrometry to detect 5α-reductase deficiency in Vietnamese children. 62
35607271 2022
21
Is intersexuality a mere difference or disorder? 62
35434797 2022
22
RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell-cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development. 62
35854363 2022
23
Whole genome sequencing identifies a missense polymorphism in PADI6 associated with testicular/ovotesticular XX disorder of sex development in dogs. 62
35597501 2022
24
Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation. 62
35546286 2022
25
Gender Incongruity in a Person with 46,XY and Complete Androgen Insensitivity Syndrome Raised as a Female. 62
34786658 2022
26
Malignant Gonadal Germ Cell Tumors (Other Than Pure Germinoma) in Patients With Disorders of Sex Development: A Report of 21 Cases Based Largely on the Collection of Dr Robert E. Scully, Illustrating a High Frequency of Yolk Sac Tumor With Prominent Hepatoid and Glandular Features. 62
34560684 2022
27
Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome. 62
35445939 2022
28
A Case of XX Disorder of Sexual Development in a Female-Phenotype Roe Deer (Capreolus capreolus L.) Associated with Antlers Growth with Retained Velvet. 62
35405854 2022
29
Primary Amenorrhea and Differences of Sex Development. 62
35772411 2022
30
Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development. 62
35331321 2022
31
Disorders of sexual development in the cat: Current state of knowledge and diagnostic approach. 62
35209773 2022
32
Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study. 62
32449406 2022
33
Defining successful outcomes and preferences for clinical management in differences/disorders of sex development: Protocol overview and a qualitative phenomenological study of stakeholders' perspectives. 62
34876378 2022
34
Trends in Time Regarding Sex Assignment of Patients with Disorders of Sex Development: Experience of an Interdisciplinary Service. 62
35172315 2022
35
Ovotesticular disorder of sexual development in adults: Never too late to consider. A case report. 62
34896341 2022
36
Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development. 62
34668586 2022
37
A Case of Persistent Hypoglycemia with Disorder of Sex Development. 62
35102386 2022
38
46XX Testicular Disorder of Sex Development. 62
35494200 2022
39
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG". 62
34562059 2022
40
Descriptive Study of Gender Dysphoria and Sexual Behavior in a Disorder of Sex Development Group. 62
36275297 2022
41
Successful in vitro fertilization pregnancy and delivery in an infertile patient with ovotesticular disorder of sex development: a case report. 62
35082211 2022
42
Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease. 62
36110215 2022
43
46, XX Testicular Disorder of Sex Development: A Case Report. 62
35494191 2022
44
The Use of Genetics for Reaching a Diagnosis in XY DSD. 62
35636390 2022
45
Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype. 62
35582623 2022
46
Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature. 62
36386789 2022
47
Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases. 62
35052499 2022
48
Large scale across-breed genome-wide association study reveals a variant in HMGA2 associated with inguinal cryptorchidism risk in dogs. 62
35617214 2022
49
Case Report: Disorder of Sexual Development in a Chinese Crested Dog With XX/XY Leukocyte Chimerism and Mixed Cell Testicular Tumors. 62
35898552 2022
50
Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant. 62
35865014 2022
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Variations for Disorder of Sexual Development

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ClinVar genetic disease variations for Disorder of Sexual Development:

5 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NR5A1 NM_004959.5(NR5A1):c.244+1G>T SNV Pathogenic
 1202586 GRCh37: 9:127265357-127265357
GRCh38: 9:124503078-124503078
2 NR5A1 NM_004959.5(NR5A1):c.218G>A (p.Cys73Tyr) SNV Pathogenic
 1202587 GRCh37: 9:127265384-127265384
GRCh38: 9:124503105-124503105
3 NR5A1 NM_004959.5(NR5A1):c.104G>A (p.Gly35Asp) SNV Pathogenic
 1202588 GRCh37: 9:127265498-127265498
GRCh38: 9:124503219-124503219
4 NR5A1 NM_004959.5(NR5A1):c.219C>G (p.Cys73Trp) SNV Pathogenic
 935575 rs1832493257 GRCh37: 9:127265383-127265383
GRCh38: 9:124503104-124503104
5 CACNA1A NM_001127222.2(CACNA1A):c.655A>G (p.Ile219Val) SNV Pathogenic
 1202591 GRCh37: 19:13476260-13476260
GRCh38: 19:13365446-13365446
6 NR5A1 NM_004959.5(NR5A1):c.1223A>C (p.His408Pro) SNV Pathogenic
 1202604 GRCh37: 9:127245200-127245200
GRCh38: 9:124482921-124482921
7 HSD17B3 NM_000197.2(HSD17B3):c.679A>G (p.Thr227Ala) SNV Pathogenic
 1202595 GRCh37: 9:99003183-99003183
GRCh38: 9:96240901-96240901
8 HSD17B3 NM_000197.2(HSD17B3):c.3G>A (p.Met1Ile) SNV Likely Pathogenic
 1342170 GRCh37: 9:99064384-99064384
GRCh38: 9:96302102-96302102
9 MYRF NM_001127392.3(MYRF):c.313A>G (p.Asn105Asp) SNV Likely Pathogenic
 1202589 GRCh37: 11:61533608-61533608
GRCh38: 11:61766136-61766136
10 MYRF NM_001127392.3(MYRF):c.2572+1G>A SNV Likely Pathogenic
 929443 rs2066528136 GRCh37: 11:61548518-61548518
GRCh38: 11:61781046-61781046
11 WT1 NM_024426.6(WT1):c.983C>T (p.Ser328Phe) SNV Likely Pathogenic
 1202590 GRCh37: 11:32438069-32438069
GRCh38: 11:32416523-32416523
12 TBCE NM_003193.5(TBCE):c.100+1G>A SNV Likely Pathogenic
 631595 rs200356271 GRCh37: 1:235543465-235543465
GRCh38: 1:235380150-235380150
13 PROP1 NM_006261.5(PROP1):c.302G>T (p.Ser101Ile) SNV Uncertain Significance
 1202592 GRCh37: 5:177421147-177421147
GRCh38: 5:177994146-177994146
14 GHRHR NM_000823.4(GHRHR):c.812+4A>C SNV Uncertain Significance
 1202593 GRCh37: 7:31014108-31014108
GRCh38: 7:30974493-30974493
15 GPRC6A NM_148963.4(GPRC6A):c.425C>T (p.Ala142Val) SNV Uncertain Significance
 1202594 GRCh37: 6:117130550-117130550
GRCh38: 6:116809387-116809387
16 GLI3 NM_000168.6(GLI3):c.1527G>C (p.Glu509Asp) SNV Uncertain Significance
 800795 rs1583749201 GRCh37: 7:42018318-42018318
GRCh38: 7:41978719-41978719
17 CBX2 NM_005189.3(CBX2):c.117-3C>T SNV Uncertain Significance
 996035 rs1906989698 GRCh37: 17:77753158-77753158
GRCh38: 17:79779359-79779359
18 POR NM_001395413.1(POR):c.967T>C (p.Tyr323His) SNV Uncertain Significance
 1199396 GRCh37: 7:75613084-75613084
GRCh38: 7:75983766-75983766
19 RXFP2 NM_130806.5(RXFP2):c.1904C>T (p.Ala635Val) SNV Uncertain Significance
 1199397 GRCh37: 13:32371455-32371455
GRCh38: 13:31797318-31797318
20 MAMLD1 NM_005491.5(MAMLD1):c.*690C>T SNV Uncertain Significance
 1199398 GRCh37: X:149680919-149680919
GRCh38: X:150512649-150512649
21 SPRY4 NM_001127496.3(SPRY4):c.778C>A (p.Leu260Met) SNV Uncertain Significance
 1199399 GRCh37: 5:141693896-141693896
GRCh38: 5:142314331-142314331
22 FLRT3, MACROD2 NM_198391.3(FLRT3):c.182C>G (p.Thr61Arg) SNV Uncertain Significance
 1199404 GRCh37: 20:14307971-14307971
GRCh38: 20:14327325-14327325
23 SOX4 NM_003107.3(SOX4):c.824C>T (p.Ala275Val) SNV Uncertain Significance
 1199405 GRCh37: 6:21595589-21595589
GRCh38: 6:21595358-21595358
24 KISS1 NM_002256.4(KISS1):c.283C>T (p.Pro95Ser) SNV Uncertain Significance
 1342171 GRCh37: 1:204159746-204159746
GRCh38: 1:204190618-204190618
25 FOXP1 NM_001349338.3(FOXP1):c.181-18031T>C SNV Uncertain Significance
 1199394 GRCh37: 3:71179819-71179819
GRCh38: 3:71130668-71130668
26 FLNA NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) SNV Uncertain Significance
 194727 rs200053635 GRCh37: X:153590902-153590902
GRCh38: X:154362534-154362534
27 PLXNA3 NM_017514.5(PLXNA3):c.788_797del (p.Val263fs) DEL Uncertain Significance
 1202598 GRCh37: X:153689631-153689640
GRCh38: X:154461291-154461300
28 DHH NM_021044.4(DHH):c.913G>A (p.Gly305Arg) SNV Uncertain Significance
 1202599 GRCh37: 12:49483920-49483920
GRCh38: 12:49090137-49090137
29 PROK2 NM_001126128.2(PROK2):c.96+4A>G SNV Uncertain Significance
 1202600 GRCh37: 3:71834104-71834104
GRCh38: 3:71784953-71784953
30 MAP3K1 NM_005921.2(MAP3K1):c.3557A>G (p.Glu1186Gly) SNV Uncertain Significance
 1202601 GRCh37: 5:56178584-56178584
GRCh38: 5:56882757-56882757
31 FGFR2 NM_000141.5(FGFR2):c.1132A>G (p.Ile378Val) SNV Uncertain Significance
 1202602 GRCh37: 10:123274786-123274786
GRCh38: 10:121515272-121515272
32 CCDC141 NM_173648.4(CCDC141):c.1979G>A (p.Arg660Gln) SNV Uncertain Significance
 1202603 GRCh37: 2:179736960-179736960
GRCh38: 2:178872233-178872233
33 GLI2 NM_001374353.1(GLI2):c.1238C>G (p.Ala413Gly) SNV Uncertain Significance
 1202605 GRCh37: 2:121732606-121732606
GRCh38: 2:120975030-120975030
34 TGIF1 NM_003244.4(TGIF1):c.16+1719dup DUP Uncertain Significance
 1202606 GRCh37: 18:3452215-3452216
GRCh38: 18:3452217-3452218
35 WT1, LOC107982234 NM_024426.6(WT1):c.314C>G (p.Ala105Gly) SNV Uncertain Significance
 476699 rs948061247 GRCh37: 11:32456593-32456593
GRCh38: 11:32435047-32435047
36 WT1 NM_024426.6(WT1):c.1437A>G (p.Thr479_Gly480=) SNV Uncertain Significance
 981464 rs1851829640 GRCh37: 11:32413528-32413528
GRCh38: 11:32391982-32391982
37 CBX2 NM_005189.3(CBX2):c.404G>A (p.Arg135Gln) SNV Uncertain Significance
 1205840 GRCh37: 17:77757646-77757646
GRCh38: 17:79783847-79783847
38 WWOX NM_016373.4(WWOX):c.1015A>T (p.Thr339Ser) SNV Uncertain Significance
 1342167 GRCh37: 16:78466608-78466608
GRCh38: 16:78432711-78432711
39 MAMLD1 NM_005491.5(MAMLD1):c.20G>A (p.Arg7Gln) SNV Uncertain Significance
 1342168 GRCh37: X:149613802-149613802
GRCh38: X:150445536-150445536
40 MAP3K1 NM_005921.2(MAP3K1):c.374C>G (p.Thr125Ser) SNV Uncertain Significance
 1342169 GRCh37: 5:56111774-56111774
GRCh38: 5:56815947-56815947

Copy number variations for Disorder of Sexual Development from CNVD:

6 (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
Sources

Expression for Disorder of Sexual Development

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Search GEO for disease gene expression data for Disorder of Sexual Development.
Sources

Pathways for Disorder of Sexual Development

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

# Super pathways Score Top Affiliating Genes
1
Nervous system development 66
Show member pathways
 13.33 WT1 SOX9 NR5A1 GATA4 FGF9 DMRT1
2
Signal Transduction 66
13.27 AMH AMHR2 CBX2 CTNNB1 DHH FGF9
3
Wnt Pathway 70
Show member pathways
 11.7 WNT4 RSPO1 CTNNB1
4
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.59 WNT4 SOX9 GATA4
6
Mammalian disorder of sexual development 74
Show member pathways
 11.22 WT1 WNT4 SRD5A1 SOX9 RSPO1 NR5A1
7
Genes controlling nephrogenesis 74
11.08 WT1 WNT4 CTNNB1
8
MAP3K1 role in promoting and blocking gonadal determination 74
10.46 WNT4 SOX9 FOXL2 FGF9
9
ALK2 signaling events 61
10.36 AMHR2 AMH
Sources

GO Terms for Disorder of Sexual Development

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.53 CBX2 CTNNB1 DMRT1 FGF9 FOXL2 GATA4
2 positive regulation of gene expression GO:0010628 10.42 AMH CTNNB1 FGF9 NR5A1 SOX9 WT1
3 positive regulation of DNA-templated transcription GO:0045893 10.41 CTNNB1 FOXL2 GATA4 MYRF NR5A1 SOX9
4 cell-cell signaling GO:0007267 10.3 INSL3 GATA4 FGF9 DHH AMH
5 cell differentiation GO:0030154 10.28 AMH CBX2 CTNNB1 DMRT1 FGF9 FOXL2
6 canonical Wnt signaling pathway GO:0060070 10.18 CTNNB1 FGF9 SOX9 WNT4
7 cellular response to growth factor stimulus GO:0071363 10.16 SRD5A1 CTNNB1 AMHR2
8 fibroblast growth factor receptor signaling pathway GO:0008543 10.14 WNT4 FGF9 CTNNB1
9 chondrocyte differentiation GO:0002062 10.14 CTNNB1 FGF9 SOX9
10 stem cell proliferation GO:0072089 10.13 SOX9 FGF9 CTNNB1
11 epithelial to mesenchymal transition GO:0001837 10.12 WNT4 SOX9 CTNNB1
12 positive regulation of stem cell proliferation GO:2000648 10.11 SOX9 FGF9 CTNNB1
13 oligodendrocyte differentiation GO:0048709 10.1 SOX9 MYRF CTNNB1
14 cell fate commitment GO:0045165 10.09 WNT4 SOX9 GATA4
15 cell fate specification GO:0001708 10.09 SOX9 DHH CTNNB1
16 negative regulation of apoptotic signaling pathway GO:2001234 10.08 CTNNB1 GATA4 WNT4
17 branching involved in ureteric bud morphogenesis GO:0001658 10.08 WT1 WNT4 SOX9 CTNNB1
18 adrenal gland development GO:0030325 10.04 WT1 WNT4 NR5A1
19 tissue development GO:0009888 10.03 WT1 NR5A1 GATA4
20 positive regulation of mesenchymal cell proliferation GO:0002053 10.03 SOX9 FGF9 CTNNB1
21 male genitalia development GO:0030539 10.03 WT1 SRD5A1 HSD17B3 CTNNB1
22 intestinal epithelial cell differentiation GO:0060575 10 SOX9 GATA4
23 oocyte development GO:0048599 10 WNT4 DMRT1 CTNNB1
24 female gonad development GO:0008585 10 WNT4 NR5A1 FOXL2 AMHR2
25 Sertoli cell development GO:0060009 9.99 SOX9 DMRT1
26 regulation of steroid biosynthetic process GO:0050810 9.99 NR5A1 DHH
27 androgen biosynthetic process GO:0006702 9.98 HSD17B3 SRD5A1
28 embryonic foregut morphogenesis GO:0048617 9.97 CTNNB1 GATA4
29 mesenchymal to epithelial transition GO:0060231 9.97 WNT4 WT1
30 Leydig cell differentiation GO:0033327 9.97 NR5A1 DHH AMH
31 positive regulation of male gonad development GO:2000020 9.97 WT1 SOX9 NR5A1 DMRT1
32 lung-associated mesenchyme development GO:0060484 9.96 FGF9 CTNNB1
33 Mullerian duct regression GO:0001880 9.92 AMHR2 AMH
34 Sertoli cell differentiation GO:0060008 9.92 WNT4 SOX9 NR5A1 DMRT1
35 mesenchymal cell proliferation GO:0010463 9.91 CTNNB1 FGF9 SOX9
36 negative regulation of female gonad development GO:2000195 9.89 WT1 NR5A1
37 renal vesicle induction GO:0072034 9.88 WNT4 SOX9
38 positive regulation of epithelial cell differentiation GO:0030858 9.86 SOX9 CTNNB1
39 sex determination GO:0007530 9.86 WT1 SRD5A1 NR5A1 AMH
40 glandular epithelial cell differentiation GO:0002067 9.85 CTNNB1 SOX9
41 renal vesicle formation GO:0072033 9.85 WNT4 CTNNB1
42 lung epithelial cell differentiation GO:0060487 9.84 SOX9 CTNNB1
43 male sex determination GO:0030238 9.81 DHH DMRT1 FGF9 NR5A1 SOX9
44 sex differentiation GO:0007548 9.61 WNT4 SRD5A1 DMRT1 CBX2 AMHR2 AMH
45 male gonad development GO:0008584 9.6 WT1 WNT4 SRD5A1 SOX9 NR5A1 INSL3

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.7 WT1 SOX9 NR5A1 MYRF GATA4 FOXL2
2 cis-regulatory region sequence-specific DNA binding GO:0000987 9.55 SOX9 GATA4 DMRT1
3 sequence-specific DNA binding GO:0043565 9.4 WT1 SOX9 NR5A1 MYRF GATA4 FOXL2
Sources

Sources for Disorder of Sexual Development

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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