MCID: SXD001
MIFTS: 33

Sex Differentiation Disease

Categories: Endocrine diseases

Aliases & Classifications for Sex Differentiation Disease

MalaCards integrated aliases for Sex Differentiation Disease:

Name: Sex Differentiation Disease 12 15
Disorder of Sexual Differentiation 12
Sex Differentiation Disorders 73
Sex Differentiation Disorder 12
Disorders of Sex Development 44

Classifications:



External Ids:

Disease Ontology 12 DOID:1923
MeSH 44 D012734

Summaries for Sex Differentiation Disease

MalaCards based summary : Sex Differentiation Disease, also known as disorder of sexual differentiation, is related to aromatase deficiency and leydig cell hypoplasia. An important gene associated with Sex Differentiation Disease is SHBG (Sex Hormone Binding Globulin), and among its related pathways/superpathways are Prolactin Signaling Pathway and Corticotropin-releasing hormone signaling pathway. Related phenotypes are homeostasis/metabolism and endocrine/exocrine gland

Wikipedia : 76 Sexual differentiation is the process of development of the differences between males and females from... more...

Related Diseases for Sex Differentiation Disease

Diseases related to Sex Differentiation Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 aromatase deficiency 32.5 CYP19A1 GNRH1 INS
2 leydig cell hypoplasia 32.3 HSD17B3 LHCGR
3 androgen insensitivity syndrome 32.1 AR SHBG SRY
4 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 31.9 CYP17A1 CYP21A2 POMC
5 mixed gonadal dysgenesis 31.8 AMH AMHR2 SRY
6 androgen insensitivity, partial 31.8 AR CYP19A1 SHBG
7 lipoid congenital adrenal hyperplasia 28.8 CYP17A1 CYP19A1 CYP21A2 POMC SRY
8 46,xx sex reversal 1 12.2
9 nonsyndromic 46,xx testicular disorders of sex development 12.2
10 dysmorphism-short stature-deafness-disorder of sex development syndrome 12.2
11 46,xx disorder of sex development-anorectal anomalies syndrome 12.2
12 46,xy ovotesticular disorder of sex development 12.2
13 46,xy sex reversal 3 11.8
14 46,xy sex reversal 5 11.7
15 leydig cell hypoplasia, type i 11.6
16 46,xy sex reversal 8 11.6
17 46,xx sex reversal 2 11.4
18 hypogonadotropic hypogonadism 23 without anosmia 11.4
19 chondrodysplasia-pseudohermaphroditism syndrome 11.3
20 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency 11.1
21 pseudohermaphroditism, female, with skeletal anomalies 11.1
22 17-beta hydroxysteroid dehydrogenase iii deficiency 11.1
23 pseudovaginal perineoscrotal hypospadias 11.1
24 46,xy sex reversal 2 11.1
25 male pseudohermaphroditism/mental retardation syndrome, verloes type 11.1
26 pontocerebellar hypoplasia, type 7 11.1
27 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.1
28 47, xxy 10.9 AR SHBG
29 postmenopausal atrophic vaginitis 10.8 AR SHBG
30 prostatic adenoma 10.8 AR SHBG
31 scleredema adultorum 10.7 INS POMC
32 mullerian aplasia and hyperandrogenism 10.7
33 46,xy sex reversal 7 10.7
34 46,xy sex reversal 6 10.7
35 testicular anomalies with or without congenital heart disease 10.7
36 46,xy sex reversal 9 10.7
37 46,xy sex reversal 10 10.7
38 46, xy disorders of sexual development 10.7
39 anorchia 10.7
40 hypoactive sexual desire disorder 10.7 CYP19A1 SHBG
41 hyperproinsulinemia 10.6 INS SHBG
42 testotoxicosis 10.6 CYP19A1 LHCGR
43 hypoadrenalism 10.6 POMC SHBG
44 hermaphroditism 10.6 SHBG SRY
45 precocious puberty, male-limited 10.6 CYP19A1 LHCGR
46 gender identity disorder 10.6 AR CYP19A1
47 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.5 CYP21A2 POMC
48 persistent mullerian duct syndrome, types i and ii 10.5 AMH AMHR2
49 fetal erythroblastosis 10.5 INS POMC SHBG
50 aromatase excess syndrome 10.5 CYP19A1 POMC

Graphical network of the top 20 diseases related to Sex Differentiation Disease:



Diseases related to Sex Differentiation Disease

Symptoms & Phenotypes for Sex Differentiation Disease

MGI Mouse Phenotypes related to Sex Differentiation Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 AMH AMHR2 AR CYP17A1 CYP19A1 GNRH1
2 endocrine/exocrine gland MP:0005379 10.06 AMHR2 AR CYP19A1 GNRH1 INS LHCGR
3 adipose tissue MP:0005375 9.91 AR CYP17A1 CYP19A1 INS LHCGR POMC
4 integument MP:0010771 9.87 CYP19A1 GNRH1 INS POMC PRL AMHR2
5 liver/biliary system MP:0005370 9.8 AR CYP19A1 GNRH1 INS LHCGR POMC
6 neoplasm MP:0002006 9.63 AMH AMHR2 AR GNRH1 POMC PRL
7 renal/urinary system MP:0005367 9.56 AMHR2 AR CYP17A1 CYP19A1 GNRH1 INS
8 reproductive system MP:0005389 9.28 AMH AMHR2 AR CYP17A1 CYP19A1 GNRH1

Drugs & Therapeutics for Sex Differentiation Disease

Search Clinical Trials , NIH Clinical Center for Sex Differentiation Disease

Cochrane evidence based reviews: disorders of sex development

Genetic Tests for Sex Differentiation Disease

Anatomical Context for Sex Differentiation Disease

Publications for Sex Differentiation Disease

Articles related to Sex Differentiation Disease:

# Title Authors Year
1
Disorders of sexual differentiation: surgical challenges of vaginal reconstruction in complete androgen insensitivity syndrome (CAIS). ( 20336898 )
2010
2
[Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation]. ( 19535881 )
2009
3
Re: The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. M. J. Cox, D. E. Coplen and P. F. Austin. J Urol 2008; 180: 2649-2652. ( 19467678 )
2009
4
Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation. ( 19601939 )
2009
5
Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype. ( 18846912 )
2008
6
The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. ( 18951572 )
2008
7
Disorders of sexual differentiation. ( 9922916 )
1998

Variations for Sex Differentiation Disease

Copy number variations for Sex Differentiation Disease 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 Differentiation Disease

Search GEO for disease gene expression data for Sex Differentiation Disease.

Pathways for Sex Differentiation Disease

GO Terms for Sex Differentiation Disease

Cellular components related to Sex Differentiation Disease 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 Differentiation Disease according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.8 AMH GNRH1 INS POMC PRL
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.75 AMH AR INS
3 steroid metabolic process GO:0008202 9.72 CYP17A1 CYP21A2 SULT2A1
4 cell-cell signaling GO:0007267 9.72 AMH AR GNRH1 INS POMC
5 male gonad development GO:0008584 9.7 AMHR2 AR LHCGR
6 male genitalia development GO:0030539 9.57 HSD17B3 LHCGR
7 uterus development GO:0060065 9.56 CYP19A1 LHCGR
8 regulation of protein localization to plasma membrane GO:1903076 9.54 AR INS
9 male sex determination GO:0030238 9.51 GNRH1 SRY
10 androgen biosynthetic process GO:0006702 9.49 CYP17A1 HSD17B3
11 glucocorticoid biosynthetic process GO:0006704 9.48 CYP17A1 CYP21A2
12 prostate gland growth GO:0060736 9.46 AR CYP19A1
13 testosterone biosynthetic process GO:0061370 9.43 CYP19A1 HSD17B3
14 sterol metabolic process GO:0016125 9.43 CYP17A1 CYP19A1 CYP21A2
15 Mullerian duct regression GO:0001880 9.37 AMH AMHR2
16 female gonad development GO:0008585 9.33 AMHR2 CYP19A1 LHCGR
17 steroid biosynthetic process GO:0006694 9.26 CYP17A1 CYP19A1 CYP21A2 HSD17B3
18 sex differentiation GO:0007548 9.02 AMH AMHR2 AR CYP17A1 SRY

Molecular functions related to Sex Differentiation Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.54 CYP17A1 CYP19A1 CYP21A2
2 heme binding GO:0020037 9.5 CYP17A1 CYP19A1 CYP21A2
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 CYP17A1 CYP19A1 CYP21A2
4 androgen binding GO:0005497 9.16 AR SHBG
5 steroid binding GO:0005496 9.13 AR CYP21A2 SHBG
6 hormone activity GO:0005179 9.02 AMH GNRH1 INS POMC PRL

Sources for Sex Differentiation Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....