MCID: PSD009
MIFTS: 40

Pseudohermaphroditism malady

Categories: Reproductive diseases, Endocrine diseases

Aliases & Classifications for Pseudohermaphroditism

Aliases & Descriptions for Pseudohermaphroditism:

Name: Pseudohermaphroditism 12 52 14
Indeterminate Sex and Pseudohermaphroditism 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3765
ICD10 33 Q56 Q56.3
ICD9CM 35 752.7
MeSH 42 D012734

Summaries for Pseudohermaphroditism

MalaCards based summary : Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism, is related to leydig cell hypoplasia with pseudohermaphroditism and male pseudohermaphroditism/mental retardation syndrome, verloes type. An important gene associated with Pseudohermaphroditism is CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1), and among its related pathways/superpathways are Metabolism of steroid hormones and Androstenedione and testosterone biosynthesis and metabolism p.1. Affiliated tissues include testis, ovary and testes, and related phenotypes are endocrine/exocrine gland and renal/urinary system

Wikipedia : 71 Pseudohermaphroditism, or pseudo-hermaphroditism, is an old clinical term for the condition in which an... more...

Related Diseases for Pseudohermaphroditism

Diseases related to Pseudohermaphroditism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 118)
id Related Disease Score Top Affiliating Genes
1 leydig cell hypoplasia with pseudohermaphroditism 33.5 CYP19A1 LHCGR
2 male pseudohermaphroditism/mental retardation syndrome, verloes type 11.9
3 pseudohermaphroditism, female, with skeletal anomalies 11.9
4 pseudovaginal perineoscrotal hypospadias 11.8
5 pseudohermaphroditism, male, with gynecomastia 11.8
6 chondrodysplasia-pseudohermaphroditism syndrome 11.8
7 aromatase deficiency 11.8
8 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.8
9 male pseudohermaphroditism due to defective lh molecule 11.7
10 leydig cell hypoplasia 11.6
11 denys-drash syndrome 11.5
12 5-alpha reductase deficiency 11.3
13 lipoid adrenal hyperplasia 11.3
14 persistent mullerian duct syndrome, type ii 11.3
15 46xy sex reversal 8 11.2
16 androgen insensitivity 11.1
17 persistent mullerian duct syndrome 11.1
18 46,xx disorder of sex development-anorectal anomalies syndrome 11.1
19 frasier syndrome 10.9
20 meacham syndrome 10.7
21 aromatase excess syndrome 10.7
22 dysmorphism-short stature-deafness-disorder of sex development syndrome 10.7
23 hermaphroditism 10.3
24 limbic encephalitis 10.2 HSD17B3 LHCGR
25 intraventricular meningioma 10.2 AR SRD5A2
26 thai symphalangism syndrome 10.2 CYP19A1 LHCGR
27 clear cell acanthoma 10.2 CYP17A1 HSD3B2
28 bent bone dysplasia syndrome 10.1 CYP17A1 CYP19A1
29 congenital adrenal hyperplasia 10.1
30 cardiomyopathy, dilated, 1v 10.1 CYP17A1 CYP19A1
31 acute thyroiditis 10.1 CYP19A1 LHCGR
32 jackson-weiss syndrome 10.1 CYP17A1 HSD3B2
33 deafness, autosomal recessive 74 10.1 CYP17A1 CYP19A1
34 mature teratoma 10.1 AR LHCGR
35 dystonia-parkinsonism, x-linked 10.1 AR CYP19A1
36 epidemic typhus 10.1 CYP17A1 CYP19A1
37 osteogenesis imperfecta 10.1 AR CYP19A1
38 glioblastoma mesenchymal subtype 10.1 AR CYP19A1
39 exocervical carcinoma 10.1 AR CYP17A1
40 congenital articular rigidity 10.0 AR CYP19A1
41 gynecomastia 10.0
42 liver sarcoma 10.0 CYP17A1 CYP19A1 LHCGR
43 leukoencephalopathy with ataxia 10.0 AR CYP19A1 SRD5A2
44 esophagus sarcoma 10.0 AR CYP19A1
45 hypospadias 1, x-linked 10.0 AR CYP19A1 SRD5A2
46 skin hemangioma 10.0 AR CYP19A1 SRD5A2
47 pelvic muscle wasting 10.0 CYP17A1 CYP19A1 HSD3B2
48 capillary disease 10.0 AR CYP19A1 HSD17B3
49 primary biliary cirrhosis 10.0 CYP17A1 CYP19A1 HSD3B2
50 palmoplantar keratoderma, bothnian type 10.0 AMH AMHR2

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to Pseudohermaphroditism

Symptoms & Phenotypes for Pseudohermaphroditism

MGI Mouse Phenotypes related to Pseudohermaphroditism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.7 WT1 AMH AMHR2 AR CYP19A1 LHCGR
2 renal/urinary system MP:0005367 9.35 AMHR2 AR CYP19A1 LHCGR WT1
3 reproductive system MP:0005389 9.23 AMH AMHR2 AR CYP17A1 CYP19A1 LHCGR

Drugs & Therapeutics for Pseudohermaphroditism

Interventional clinical trials:


id Name Status NCT ID Phase
1 Mutation Analysis of 17╬▓hydroxysteroid Dehydrogenase 3 Deficiency Unknown status NCT00173654
2 Mutation Analysis of 17╬▒-Hydroxylase Unknown status NCT00172510

Search NIH Clinical Center for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

Anatomical Context for Pseudohermaphroditism

MalaCards organs/tissues related to Pseudohermaphroditism:

39
Testis, Ovary, Testes, Skin, Bone, Kidney, Uterus

Publications for Pseudohermaphroditism

Articles related to Pseudohermaphroditism:

(show top 50) (show all 485)
id Title Authors Year
1
Idiopathic female pseudohermaphroditism with urethral duplication and female hypospadias. ( 26965407 )
2016
2
Effects of feminizing reconstructive surgery on sexual function and genital sensitivity in patients with female pseudohermaphroditism versus healthy control. ( 27172824 )
2016
3
Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism. ( 27294221 )
2016
4
Male Pseudohermaphroditism: Ambiguous genitalia. ( 27617556 )
2016
5
Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis. ( 25599724 )
2014
6
Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase/17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism: First Case Report from Oman. ( 24498484 )
2014
7
WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma. ( 23618379 )
2013
8
Two cases of pseudohermaphroditism in loggerhead sea turtles Caretta caretta. ( 23999702 )
2013
9
Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios. ( 24411046 )
2013
10
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7. ( 23450434 )
2013
11
A rare adolescent case of female pseudohermaphroditism with adrenocortical carcinoma and synchronous teratoma. ( 23528907 )
2013
12
Female pseudohermaphroditism associated with maternal steroid cell tumor, not otherwise specified of the ovary: a case report and literature review. ( 24597265 )
2013
13
Two-step surgery for a unique case of idiopathic female pseudohermaphroditism. Surgical treatment in an exceptional combined uro-genital malformation. ( 23110911 )
2012
14
Tetralogy of fallot associated with dysplastic kidneys, cloacal anomalies, and female pseudohermaphroditism: a systemic anomaly of septation? ( 22811944 )
2012
15
Male pseudohermaphroditism presented with sudden cardiac arrest. ( 22477014 )
2012
16
Clinical, genetic, and pathological features of male pseudohermaphroditism in dog. ( 21255434 )
2011
17
Male pseudohermaphroditism with mixed germ cell tumor. ( 21298767 )
2011
18
Male pseudohermaphroditism as a cause of secondary hypertension: a case report. ( 20960109 )
2010
19
Mutational analysis of androgen receptor gene in four Chinese patients with male pseudohermaphroditism. ( 20056211 )
2010
20
Staged reconstruction of the labia minora and reduction clitoroplasty for female pseudohermaphroditism. ( 20414773 )
2010
21
Persistent cloaca, fused kidneys, female pseudohermaphroditism and skeletal anomalies in a simmental calf. ( 19469769 )
2009
22
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. ( 19268447 )
2009
23
A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism. ( 19551906 )
2009
24
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. ( 18097518 )
2008
25
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. ( 17509588 )
2008
26
Laparoscopy and intersex: report of 5 cases of male pseudohermaphroditism. ( 18319558 )
2008
27
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. ( 18314109 )
2008
28
Mutations in a novel, cryptic exon of the luteinizing hormone/chorionic gonadotropin receptor gene cause male pseudohermaphroditism. ( 18433292 )
2008
29
Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus. ( 16835917 )
2006
30
Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. ( 17128566 )
2006
31
Male pseudohermaphroditism in a Labrador Retriever, and a review of mammalian sexual differentiation. ( 17028664 )
2006
32
A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism. ( 16500352 )
2006
33
Rare association of female pseudohermaphroditism, phallic urethra, and posterior cloaca. ( 16516639 )
2006
34
Long-term surgical results and patient satisfaction with male pseudohermaphroditism or true hermaphroditism: a cohort of 63 patients. ( 16600787 )
2006
35
Idiopathic male pseudohermaphroditism: variations in presentation and management. ( 16042324 )
2005
36
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family. ( 16098368 )
2005
37
Enlarged clitoris in wild polar bears (Ursus maritimus) can be misdiagnosed as pseudohermaphroditism. ( 15626378 )
2005
38
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency and insulin resistance in a girl with Turner syndrome. ( 16052861 )
2005
39
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister. ( 15844475 )
2005
40
Male Pseudohermaphroditism in a raccoon dog (Nyctereutes procynoides). ( 15997188 )
2005
41
XY male pseudohermaphroditism in a captive Arabian oryx (Oryx leucoryx). ( 17312771 )
2005
42
A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. ( 16433250 )
2005
43
Idiopathic male pseudohermaphroditism is associated with prenatal growth retardation. ( 15711770 )
2005
44
Male pseudohermaphroditism. ( 19810311 )
2005
45
Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene. ( 15528927 )
2004
46
Congenital adrenal hypoplasia and male pseudohermaphroditism due to DAX1 mutation, SF1 mutation or neither: a patient report. ( 15379426 )
2004
47
What is your diagnosis? Male pseudohermaphroditism. ( 15460200 )
2004
48
Genetic sex determination, gender identification and pseudohermaphroditism in the knobbed whelk, Busycon carica (Mollusca: Melongenidae). ( 15156923 )
2004
49
Pseudohermaphroditism. ( 15136360 )
2004
50
Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin. ( 15064320 )
2004

Variations for Pseudohermaphroditism

Expression for Pseudohermaphroditism

Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for Pseudohermaphroditism

GO Terms for Pseudohermaphroditism

Cellular components related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.35 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
2 endoplasmic reticulum membrane GO:0005789 9.02 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2

Biological processes related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.93 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
2 cell-cell signaling GO:0007267 9.76 AMH AR SRD5A2
3 male gonad development GO:0008584 9.72 AMHR2 AR LHCGR SRD5A2 WT1
4 sterol metabolic process GO:0016125 9.58 CYP17A1 CYP19A1
5 female gonad development GO:0008585 9.57 AMHR2 CYP19A1
6 androgen metabolic process GO:0008209 9.56 CYP19A1 SRD5A2
7 male genitalia development GO:0030539 9.56 HSD17B3 LHCGR SRD5A2 WT1
8 gonad development GO:0008406 9.55 AMH WT1
9 steroid biosynthetic process GO:0006694 9.55 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
10 testosterone biosynthetic process GO:0061370 9.54 CYP19A1 HSD17B3 SRD5A2
11 progesterone metabolic process GO:0042448 9.52 CYP17A1 SRD5A2
12 sex determination GO:0007530 9.51 AMH WT1
13 glucocorticoid biosynthetic process GO:0006704 9.49 CYP17A1 HSD3B2
14 prostate gland growth GO:0060736 9.48 AR CYP19A1
15 cellular response to gonadotropin stimulus GO:0071371 9.46 LHCGR WT1
16 female genitalia development GO:0030540 9.43 CYP19A1 SRD5A2
17 Mullerian duct regression GO:0001880 9.4 AMH AMHR2
18 androgen biosynthetic process GO:0006702 9.26 CYP17A1 HSD17B3 HSD3B2 SRD5A2
19 sex differentiation GO:0007548 9.02 AMH AMHR2 AR CYP17A1 SRD5A2

Molecular functions related to Pseudohermaphroditism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.02 CYP17A1 CYP19A1 HSD17B3 HSD3B2 SRD5A2
2 oxygen binding GO:0019825 8.96 CYP17A1 CYP19A1

Sources for Pseudohermaphroditism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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70 UMLS via Orphanet
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