MCID: PSD009
MIFTS: 39

Pseudohermaphroditism malady

Reproductive diseases, Endocrine diseases categories

Aliases & Classifications for Pseudohermaphroditism

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Sources:
10Disease Ontology, 47Novoseek, 12DISEASES, 59SNOMED-CT, 65UMLS, 29ICD9CM, 27ICD10
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Aliases & Descriptions for Pseudohermaphroditism:

Name: Pseudohermaphroditism 10 47 12
 
Indeterminate Sex and Pseudohermaphroditism 10


Classifications:



External Ids:

Disease Ontology10 DOID:3765
ICD9CM29 752.7
ICD1027 Q56, Q56.3

Summaries for Pseudohermaphroditism

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Wikipedia:68 Pseudohermaphroditism, or pseudo-hermaphroditism, is the condition in which an organism is born with... more...

MalaCards based summary: Pseudohermaphroditism, also known as indeterminate sex and pseudohermaphroditism, is related to persistent mullerian duct syndrome, type ii and frasier syndrome. An important gene associated with Pseudohermaphroditism is HSD17B3 (Hydroxysteroid (17-Beta) Dehydrogenase 3), and among its related pathways are Ovarian Infertility Genes and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include testis, ovary and testes, and related mouse phenotypes are endocrine/exocrine gland and homeostasis/metabolism.

Related Diseases for Pseudohermaphroditism

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

(show top 50)    (show all 138)
idRelated DiseaseScoreTop Affiliating Genes
1persistent mullerian duct syndrome, type ii30.2AMH, AMHR2
2frasier syndrome29.9AMH, WT1
3gonadal dysgenesis29.9AMH, AMHR2, AR, CYP19A1
4leprechaunism29.5AMH, AR, WT1
5leydig cells hypoplasia10.5
6congenital adrenal hyperplasia10.5
7male pseudohermaphroditism intellectual disability syndrome, verloes type10.5
85-alpha reductase deficiency10.4
9denys-drash syndrome10.4
10gynecomastia10.4
11pseudohermaphroditism, male, with gynecomastia10.4
12aromatase deficiency10.4
13androgen insensitivity10.4
14pseudovaginal perineoscrotal hypospadias10.3
15leydig cell hypoplasia with pseudohermaphroditism10.3
16male pseudohermaphroditism due to defective lh molecule10.3
17cryptorchidism10.2
18gonadoblastoma10.2
19inguinal hernia10.2
20anorchia10.2
21mixed gonadal dysgenesis10.2
22persistent mullerian duct syndrome10.2
23hermaphroditism10.2
24vaginitis10.2
2546,xy disorder of sex development due to 5-alpha-reductase 2 deficiency10.2
2646,xy partial gonadal dysgenesis10.2
27tetraamelia multiple malformations x-linked10.1CYP19A1, LHCGR
28steroid-induced glaucoma10.1CYP17A1, HSD3B2
29subclavian steal syndrome10.1CYP19A1, LHCGR
30spinal and bulbar muscular atrophy of kennedy10.1AR, SRD5A2
31craniofrontonasal dysplasia10.1AR, CYP19A1
32germ cell and embryonal cancer10.1AR, CYP19A1
33creatine transporter deficiency10.1AR, CYP19A1
34lipoid adrenal hyperplasia10.1
3546xy sex reversal 810.1
36linear skin defects with multiple congenital anomalies 110.1
37androgen insensitivity, partial, with or without breast cancer10.1
38glomerulonephritis10.1
39hypospadias10.1
40adenoma10.1
41hypogonadism10.1
42turner syndrome10.1
43genito palato cardiac syndrome10.1
44glomerular disease10.1
45precocious puberty10.1
4646,xy disorder of sex development - adrenal insufficiency due to cyp11a1 deficiency10.1
4746,xy gonadal dysgenesis - motor and sensory neuropathy10.1
4846,xx disorder of sex development - anorectal anomalies10.1
4946,xx disorder of sex development - skeletal anomalies10.1
50leydig cell hypoplasia due to lhb deficiency10.1

Graphical network of the top 20 diseases related to Pseudohermaphroditism:



Diseases related to pseudohermaphroditism

Symptoms for Pseudohermaphroditism

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Drugs & Therapeutics for Pseudohermaphroditism

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Mutation Analysis of 17╬▓hydroxysteroid Dehydrogenase 3 DeficiencyRecruitingNCT00173654
2Mutation Analysis of 17╬▒-HydroxylaseRecruitingNCT00172510

Search NIH Clinical Center for Pseudohermaphroditism

Genetic Tests for Pseudohermaphroditism

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Anatomical Context for Pseudohermaphroditism

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MalaCards organs/tissues related to Pseudohermaphroditism:

33
Testis, Ovary, Testes, Bone, Skin, Uterus, Kidney

Animal Models for Pseudohermaphroditism or affiliated genes

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MGI Mouse Phenotypes related to Pseudohermaphroditism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053796.9AMH, AMHR2, AR, CYP19A1, LHCGR, SRD5A2
2MP:00053766.7AMH, AMHR2, AR, CYP17A1, CYP19A1, LHCGR
3MP:00053896.2AMH, AMHR2, AR, CYP17A1, CYP19A1, LHCGR

Publications for Pseudohermaphroditism

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Articles related to Pseudohermaphroditism:

(show top 50)    (show all 477)
idTitleAuthorsYear
1
Female pseudohermaphroditism: strategy and bias in a fast diagnosis. How tricky could be a diagnosis with a wrong anamnesis. (25599724)
2014
2
Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism. (19268447)
2009
3
Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism. (18314109)
2008
4
Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism. (18097518)
2008
5
17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. (17509588)
2008
6
Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1). (12210571)
2002
7
Nongenetic male pseudohermaphroditism and reduced prenatal growth. (11596604)
2001
8
Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism. (11300937)
2001
9
Normal bone density in male pseudohermaphroditism due to 5alpha- reductase 2 deficiency. (11781593)
2001
10
The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. (9467575)
1998
11
Female pseudohermaphroditism]. (9396289)
1997
12
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome. (9212186)
1997
13
Male pseudohermaphroditism in a cat. (9121130)
1997
14
A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females. (8626842)
1996
15
Caudal developmental field defect with female pseudohermaphroditism and VACTERL anomalies. (8897042)
1996
16
Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene. (7719343)
1995
17
XX male pseudohermaphroditism in a horse. (7601700)
1995
18
Female pseudohermaphroditism with multiple caudal anomalies: absence of Y-specific DNA sequences as pathogenetic factors. (7913293)
1994
19
Endocrine findings in male pseudohermaphroditism. (8339744)
1993
20
Male pseudohermaphroditism. (1485188)
1992
21
Dysgenetic male pseudohermaphroditism in a 45,X/46,X,del(Y)(q11.1) mosaic infant. (3565468)
1987
22
Linkage of genes for ectopic testes and male pseudohermaphroditism in the rat. (3958481)
1986
23
An unusual case of male pseudohermaphroditism: complete testicular feminization associated with incomplete differentiation of the MA1llerian duct. (6319204)
1984
24
Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs phenotype can result from a mutation that alters the structure of the androgen receptor. (6541981)
1984
25
Deficiency of androgen receptors in male pseudohermaphroditism. (6823726)
1983
26
Familial incomplete male pseudohermaphroditism associated with impaired nuclear androgen retention. Studies in cultured skin fibroblasts. (6833492)
1983
27
Male pseudohermaphroditism secondary to an abnormality in Leydig cell differentiation. (6263934)
1981
28
46,XY male pseudohermaphroditism due to early foetal testicular dysgenesis. (7293662)
1981
29
Dysgenetic male pseudohermaphroditism. (650759)
1978
30
Hereditary male pseudohermaphroditism associated with an unstable form of 5 alpha-reductase. (29056)
1978
31
Pseudo-pseudohermaphroditism and multiple neurofibromatosis. (98644)
1978
32
Male pseudohermaphroditism consistent with 17,20-desmolase deficiency. (184011)
1976
33
Paraphimosis in a pseudohermaphrodite dog. (1048798)
1976
34
A fetopathological study of female pseudohermaphroditism. Report of four autopsy cases. (1230460)
1975
35
Pseudohermaphroditism, nephron disorder and wilms' tumor: a unifying concept. (4153449)
1974
36
Familial 78XX male pseudohermaphroditism in three dogs. (4855630)
1974
37
Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. (4352099)
1972
38
A case report. Equine pseudohermaphroditism. (5892527)
1965
39
FAMILIAL MALE PSEUDOHERMAPHRODITISM. (14329824)
1965
40
FAMILIAL FEMALE PSEUDOHERMAPHRODITISM WITH HYPERTENSION AND PENILE URETHRA. (14063383)
1963
41
CANINE HEMOPHILIA AND MALE PSEUDOHERMAPHRODITISM; CYTOGENETIC STUDIES. (14084845)
1963
42
Non-adrenal female pseudohermaphroditism associated with hormone administration in pregnancy. (13645665)
1959
43
Phallic urethra in female pseudohermaphroditism. (13487072)
1958
44
Female non-adrenal pseudohermaphroditism. (13605771)
1958
45
Female pseudohermaphroditism; report of case in an infant born of a mother receiving methyltestosterone during pregnancy. (13400928)
1957
46
Male pseudohermaphroditism in three siblings. (13007282)
1953
47
Male pseudohermaphroditism. (13051595)
1953
48
Male pseudohermaphroditism proved by surgical exploration and microscopic examination; a case report with speculations concerning pathogenesis. (18863968)
1948
49
Adrenal tumours and pseudohermaphroditism; a hormone study of cases. (20266369)
1947
50
The excretion of neutral 17-ketosteroids in two cases of male pseudohermaphroditism. (21025120)
1946

Variations for Pseudohermaphroditism

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Expression for genes affiliated with Pseudohermaphroditism

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Search GEO for disease gene expression data for Pseudohermaphroditism.

Pathways for genes affiliated with Pseudohermaphroditism

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GO Terms for genes affiliated with Pseudohermaphroditism

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057898.6CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1androgen metabolic processGO:000820910.3CYP19A1, SRD5A2
2prostate gland growthGO:006073610.2AR, CYP19A1
3cellular response to gonadotropin stimulusGO:007137110.2LHCGR, WT1
4female gonad developmentGO:000858510.2AMHR2, LHCGR
5glucocorticoid biosynthetic processGO:000670410.1CYP17A1, HSD3B2
6sterol metabolic processGO:001612510.0CYP17A1, CYP19A1
7seminiferous tubule developmentGO:00725209.9AR, WT1
8Mullerian duct regressionGO:00018809.8AMH, AMHR2
9sex determinationGO:00075309.7AMH, WT1
10androgen biosynthetic processGO:00067029.6CYP17A1, HSD17B3, HSD3B2, SRD5A2
11gonad developmentGO:00084069.6AMH, WT1
12steroid biosynthetic processGO:00066949.4CYP17A1, CYP19A1, HSD3B2, SRD5A2
13cell-cell signalingGO:00072679.3AMH, AR, SRD5A2
14male genitalia developmentGO:00305399.3HSD17B3, LHCGR, SRD5A2, WT1
15steroid metabolic processGO:00082028.9CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2
16small molecule metabolic processGO:00442818.7CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2
17oxidation-reduction processGO:00551148.5CYP17A1, CYP19A1, HSD17B3, HSD3B2, SRD5A2
18male gonad developmentGO:00085848.1AMHR2, AR, LHCGR, SRD5A2, WT1
19sex differentiationGO:00075487.9AMH, AMHR2, AR, CYP17A1

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

idNameGO IDScoreTop Affiliating Genes
1oxygen bindingGO:00198259.6CYP17A1, CYP19A1

Sources for Pseudohermaphroditism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet