MCID: GND004
MIFTS: 43

Gonadal Dysgenesis malady

Rare diseases category

Summaries for Gonadal Dysgenesis

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Disease Ontology:9 A hypogonadism that is characterized by a progressive loss of germ cells on the developing gonads of an embryo.

MalaCards based summary: Gonadal Dysgenesis, also known as gonadal dysgenesis syndrome, is related to mixed gonadal dysgenesis and turner syndrome. An important gene associated with Gonadal Dysgenesis is SRY (sex determining region Y), and among its related pathways are Regulation of Androgen receptor activity and Nuclear Receptor transcription pathway. The compounds deoxyribonucleic acid and biotin have been mentioned in the context of this disorder. Affiliated tissues include ovary, testis and bone, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Wikipedia:63 Gonadal dysgenesis is any congenital developmental disorder of the reproductive system characterized by... more...

Aliases & Classifications for Gonadal Dysgenesis

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Gonadal Dysgenesis, Aliases & Descriptions:

Name: Gonadal Dysgenesis 9 41 11 60
Gonadal Dysgenesis Syndrome 9
 
Turner Syndrome 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

Disease Ontology9 DOID:14447
MeSH33 D006059
ICD9CM27 758.6

Related Diseases for Gonadal Dysgenesis

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Diseases in the Gonadal Dysgenesis family:

46 Xy Gonadal Dysgenesis 46 Xx Gonadal Dysgenesis

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

(show top 50)    (show all 132)
idRelated DiseaseScoreTop Affiliating Genes
1mixed gonadal dysgenesis32.0SRY, CYP21A2
2turner syndrome31.2CYP21A2, SRY
346xy sex reversal 330.7NR5A1
4wilms tumor30.4SRY, NR5A1, NR0B1
5hypogonadism30.4NR0B1, NR5A1
6precocious puberty30.3CYP21A2, NR0B1
7infertility30.3CYP21A2, SRY, NR5A1
846,xy disorder of sex development and 46,xy complete gonadal dysgenesis30.2NR0B1, NR5A1, SRY, DHH
9hypospadias30.1SRY, NR5A1, CYP21A2
10gonadoblastoma11.0
11swyer syndrome10.8
12dysgerminoma10.8
1346 xy gonadal dysgenesis10.7
1446,xy partial gonadal dysgenesis10.7
15denys-drash syndrome10.5
16anorexia nervosa10.5
1746xy partial gonadal dysgenesis, with minifascicular neuropathy10.5
18hermaphroditism10.5
1945,x/46,xy mixed gonadal dysgenesis10.5
20ovarian dysgenesis 110.5
21amenorrhea10.5
22pseudohermaphroditism10.5
23frasier syndrome10.5
24perrault syndrome10.5
2546 xx gonadal dysgenesis10.5
26adenocarcinoma10.5
27neuropathy10.5
2846,xx testicular disorder of sex development10.5
29seminoma10.4
30gonadal dysgenesis xy type associated anomalies10.4
31mental retardation10.4
32acute adrenal insufficiency10.4CYP21A2
33androgen insensitivity10.4
34premature ovarian failure10.4
35hypogonadotropism10.4
36nephrotic syndrome10.4
3746,xx gonadal dysgenesis epibulbar dermoid10.4
38mayer-rokitansky-kuster-hauser syndrome10.4
3946,xy gonadal dysgenesis - motor and sensory neuropathy10.4
40lung fibrosis - immunodeficiency - 46,xx gonadal dysgenesis10.4
41adrenocortical carcinoma10.3NR5A1
42perrault syndrome 110.3
43pseudopseudohypoparathyroidism10.3
4446xy sex reversal 110.3
45alopecia10.3
46graves' disease10.3
47endometrial adenocarcinoma10.3
48peripheral neuropathy10.3
49dwarfism10.3
50growth hormone deficiency10.3

Graphical network of the top 20 diseases related to Gonadal Dysgenesis:



Diseases related to gonadal dysgenesis

Symptoms for Gonadal Dysgenesis

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Drugs & Therapeutics for Gonadal Dysgenesis

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Drug clinical trials:

Search ClinicalTrials for Gonadal Dysgenesis

Search NIH Clinical Center for Gonadal Dysgenesis

Genetic Tests for Gonadal Dysgenesis

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Anatomical Context for Gonadal Dysgenesis

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MalaCards organs/tissues related to Gonadal Dysgenesis:

31
Ovary, Testis, Bone, Breast, Kidney, Uterus, Testes, Pituitary, Heart, Lung, Thyroid, Cervix

Animal Models for Gonadal Dysgenesis or affiliated genes

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MGI Mouse Phenotypes related to Gonadal Dysgenesis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.3DHH, PSMC3IP, SRY, NR5A1, NR0B1, CBX2
2MP:00053797.0NR0B1, NR5A1, SRY, PSMC3IP, DHH, CBX2

Publications for Gonadal Dysgenesis

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Articles related to Gonadal Dysgenesis:

(show top 50)    (show all 550)
idTitleAuthorsYear
1
Microscopic dysgerminoma associated with anti-Ma2 paraneoplastic encephalitis in a patient with gonadal dysgenesis. (23518911)
2013
2
45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology. (24247294)
2013
3
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. (23786321)
2013
4
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? (22644991)
2012
5
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. (21408189)
2011
6
Mixed gonadal dysgenesis with normal karyotype: a rare case report. (20551542)
2010
7
DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis. (19007850)
2009
8
Laparoscopic gonadectomy in a kidney transplant patient with pure gonadal dysgenesis: a case report. (20677489)
2009
9
A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis. (18675968)
2008
10
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma. (19472738)
2008
11
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. (17504899)
2007
12
Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome. (14691719)
2004
13
Seminoma and a gonadoblastoma in an infant with mixed gonadal dysgenesis. (12915842)
2003
14
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis. (12409269)
2002
15
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. (11223846)
2001
16
Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum. (10546094)
1999
17
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. (9718353)
1998
18
Brenner tumor in 46,XY gonadal dysgenesis. (11770612)
1997
19
XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. (7814028)
1995
20
Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. (7607640)
1995
21
Laparoscopic surgery and DNA analysis in patients with XY pure gonadal dysgenesis. (8591113)
1995
22
Left ovarian cyst and right streak ovary in a neonate with a normal karyotype. Report of a case of neonatal Slotnick-Goldfarb syndrome or recessive gonadal dysgenesis. (8040851)
1994
23
Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother. (7951580)
1994
24
Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report. (8305146)
1993
25
46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis (20301714)
1993
26
Coexistence of low secretion of gonadotropins and ACTH in a patient with gonadal dysgenesis and pituitary tumor. (2167303)
1990
27
Successful therapy of metastatic embryonal carcinoma coexisting with gonadoblastoma in a patient with 46,XY pure gonadal dysgenesis (Swyer's syndrome). (2190872)
1990
28
A case of mixed gonadal dysgenesis: examination of chromosomes in various parts of the body]. (2347420)
1990
29
46,XY pure gonadal dysgenesis with gonadoblastoma. (2592807)
1989
30
Modulation of serum follicle-stimulating hormone bioactivity and isoform distribution by estrogenic steroids in normal women and in gonadal dysgenesis. (3137241)
1988
31
Trisomy 8p by malsegregation of a t(5;8)(p15;p11)mat in a case of XY pure gonadal dysgenesis. (3066281)
1988
32
Variants of 61 cases with gonadal dysgenesis. (3632462)
1987
33
Sexual development and life of women with gonadal dysgenesis. (3612822)
1987
34
Perinatal oocyte loss in XO mice and its implications for the aetiology of gonadal dysgenesis in XO women. (3906118)
1985
35
Gonadal tumors in patients with gonadal dysgenesis and sex chromosomal rings and fragments. (6476029)
1984
36
LH concentrations in two cattle with XY gonadal dysgenesis. (6379172)
1984
37
H-Y antigen expression in a case of mixed gonadal dysgenesis. (6169618)
1981
38
Evidence for dissociation between adrenarche and gonadarche: studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence. (6447708)
1980
39
Gonadal dysgenesis in a patient with an X;3 translocation: case report and review. (7401133)
1980
40
H-Y antigen in X,i(Xq) gonadal dysgenesis: evidence of X-linked genes in testicular differentiation. (7450775)
1980
41
46, XY gonadal dysgenesis with secondary amenorrhea, virilization, and bilateral gonadoblastomas. (572994)
1979
42
XY gonadal dysgenesis. (83471)
1979
43
Pregnancy in five women with 45,X/46,XX and 45,X/47,XXX gonadal dysgenesis. (728581)
1978
44
Gonadal dysgenesis in a phenotypic female with an XY chromosomal constitution. (675413)
1978
45
X-X translocation in a patient with gonadal dysgenesis and the problems of phenotype-karyotype correlations. (631846)
1978
46
Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies. (566645)
1978
47
Prepubertal XY gonadal dysgenesis. (557787)
1977
48
Mixed gonadal dysgenesis without virilization. (904800)
1977
49
Presumptive Y/D translocation in mixed gonadal dysgenesis. (6034520)
1967
50
"Mixed" gonadal dysgenesis: a variety of hermaphroditism. (13989874)
1963

Variations for Gonadal Dysgenesis

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Expression for genes affiliated with Gonadal Dysgenesis

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Search GEO for disease gene expression data for Gonadal Dysgenesis.

Pathways for genes affiliated with Gonadal Dysgenesis

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Pathways related to Gonadal Dysgenesis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3NR0B1, SRY
2
Show member pathways
Nuclear Receptors36
9.0NR0B1, NR5A1

Compounds for genes affiliated with Gonadal Dysgenesis

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 28IUPHAR, 59Tocris Bioscience
See all sources

Compounds related to Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(show all 21)
idCompoundScoreTop Affiliating Genes
1deoxyribonucleic acid439.8SRY, CYP21A2
2biotin43 24 1211.6SRY, CYP21A2
33beta-hydroxysteroid439.6NR5A1, CYP21A2
4dehydroepiandrosterone sulfate439.6CYP21A2, NR5A1
517beta-hydroxysteroid439.6CYP21A2, NR5A1
6dhea439.6NR5A1, CYP21A2
7dihydrotestosterone43 28 24 1212.5CYP21A2, SRY
8corticosterone43 59 2411.5NR5A1, CYP21A2
9agarose439.3SRY, CYP21A2
10estradiol43 24 1211.3NR5A1, SRY, CYP21A2
11oligonucleotide439.1CYP21A2, SRY, NR5A1
12dmrt439.0NR0B1, NR5A1, SRY
13acth438.8NR0B1, NR5A1, CYP21A2
14gnrh438.8CYP21A2, NR5A1, NR0B1
15progesterone43 28 59 24 1212.7CYP21A2, NR5A1, NR0B1
16cholesterol43 28 24 1211.7NR0B1, NR5A1, CYP21A2
17zinc43 249.7NR0B1, NR5A1, SRY
18estrogen438.5NR0B1, NR5A1, CYP21A2
19leucine438.5CYP21A2, SRY, NR5A1, NR0B1
20testosterone43 59 24 1211.5NR0B1, NR5A1, SRY, CYP21A2
21steroid438.5CYP21A2, SRY, NR5A1, NR0B1

GO Terms for genes affiliated with Gonadal Dysgenesis

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Biological processes related to Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:020000209.6NR5A1, SRY
2regulation of steroid biosynthetic processGO:00508109.6DHH, NR5A1
3Leydig cell differentiationGO:00333279.3NR0B1, DHH
4male sex determinationGO:00302389.0NR0B1, SRY, DHH
5adrenal gland developmentGO:00303259.0NR5A1, NR0B1
6male gonad developmentGO:00085849.0NR0B1, NR5A1
7intracellular receptor signaling pathwayGO:00305228.9NR0B1, NR5A1
8cell differentiationGO:00301548.7NR5A1, SRY, CBX2

Molecular functions related to Gonadal Dysgenesis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.5NR5A1, SRY
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00048798.9NR5A1, NR0B1
3steroid hormone receptor activityGO:00037078.7NR0B1, NR5A1
4DNA bindingGO:00036777.7NR0B1, NR5A1, SRY, PSMC3IP, CBX2

Products for genes affiliated with Gonadal Dysgenesis

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Sources for Gonadal Dysgenesis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet