Aliases & Classifications for Gonadal Agenesis

MalaCards integrated aliases for Gonadal Agenesis:

Name: Gonadal Agenesis 57 54

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
gonadal agenesis:
Inheritance autosomal recessive inheritance


External Ids:

OMIM® 57 600171
MedGen 41 C0949331
SNOMED-CT via HPO 68 258211005

Summaries for Gonadal Agenesis

MalaCards based summary : Gonadal Agenesis is related to 46,xy sex reversal 11 and pagod syndrome. An important gene associated with Gonadal Agenesis is LHX9 (LIM Homeobox 9). Affiliated tissues include pituitary, kidney and skin, and related phenotype is agonadism.

More information from OMIM: 600171

Related Diseases for Gonadal Agenesis

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



Diseases related to Gonadal Agenesis

Symptoms & Phenotypes for Gonadal Agenesis

Human phenotypes related to Gonadal Agenesis:

31
# Description HPO Frequency HPO Source Accession
1 agonadism 31 HP:0008633

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
G U:
gonadal agenesis
normal female external genitalia
hypoplastic mullerian derivatives

Clinical features from OMIM®:

600171 (Updated 05-Apr-2021)

Drugs & Therapeutics for Gonadal Agenesis

Search Clinical Trials , NIH Clinical Center for Gonadal Agenesis

Genetic Tests for Gonadal Agenesis

Anatomical Context for Gonadal Agenesis

MalaCards organs/tissues related to Gonadal Agenesis:

40
Pituitary, Kidney, Skin, Uterus, Hypothalamus

Publications for Gonadal Agenesis

Articles related to Gonadal Agenesis:

(show top 50) (show all 84)
# Title Authors PMID Year
1
Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene. 61 57
7977459 1994
2
Familial gonadal germinative failure: endocrine and human leukocyte antigen studies. 57
6409674 1983
3
[SF-1, a key player in adrenal and gonadal differentiation: implications in gonadal dysgenesis and primary ovarian insufficiency]. 54 61
19878766 2009
4
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. 54 61
17200175 2007
5
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. 61 54
15070943 2004
6
Long-term outcome in a case series of Denys-Drash syndrome. 61
31807296 2019
7
The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center. 61
30017534 2019
8
Gonadal agenesis with hypoplastic paramesonephric ducts (PMNDs) derivatives in dizygotic twins. 61
27379817 2016
9
Sexual infantilism in a normal karotypic female related to ovarian agenesis associated with Müllerian agenesis--Case report. 61
26411228 2015
10
Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature. 61
24844942 2014
11
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1. 61
24056159 2013
12
Primary hypogonadism in a case with XLAG syndrome. 61
23329764 2012
13
Update--steroidogenic factor 1 (SF-1, NR5A1). 61
20595937 2010
14
[Gonadal agenesis 46,XX associated with Mayer-Rokitansky-Kuster-Haüser syndrome. A rare association]. 61
19213530 2008
15
A rare case of rudimentary uterus with absence of both ovaries and 46,XX normal karyotype without mosaicism. 61
18400588 2008
16
Management of an unusual case of atypical Mayer-Rokitansky-Kuster-Hauser syndrome, with unilateral gonadal agenesis, solitary ectopic pelvic kidney, and pelviureteric junction obstruction. 61
17093891 2007
17
Pure XY gonadal dysgenesis and agenesis in monozygotic twins. 61
16580399 2006
18
A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype. 61
15652909 2005
19
Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function. 61
15118069 2004
20
XX-agonadism in a fetus with multiple congenital anomalies. 61
15039981 2004
21
Mayer-Rokitansky-Küster-Hauser syndrome associated with unilateral gonadal agenesis. A case report. 61
14686026 2003
22
SF-1 a key player in the development and differentiation of steroidogenic tissues. 61
14594453 2003
23
Convergence of Wnt signaling and steroidogenic factor-1 (SF-1) on transcription of the rat inhibin alpha gene. 61
12732619 2003
24
Development of a transgenic green fluorescent protein lineage marker for steroidogenic factor 1. 61
12530654 2002
25
Development of a transgenic green fluorescent protein lineage marker for steroidogenic factor 1. 61
12351700 2002
26
Study of primary amenorrhoea with special reference to cytogenetic evaluation. 61
12696730 2002
27
Knockout mice lacking steroidogenic factor 1 are a novel genetic model of hypothalamic obesity. 61
11796516 2002
28
Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome. 61
11779614 2002
29
Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis. 61
11397841 2001
30
Steroidogenic factor 1 (SF1) is essential for pituitary gonadotrope function. 61
11124111 2001
31
The LIM homeobox gene Lhx9 is essential for mouse gonad formation. 61
10706291 2000
32
Steroidogenic factor 1 (SF-1) is essential for endocrine development and function. 61
10418976 1999
33
The roles of steroidogenic factor 1 in endocrine development and function. 61
9722169 1998
34
MR imaging of intersexuality. 61
9460110 1998
35
XX-agonadism in a fetus with multiple dysraphic lesions: a new syndrome. 61
9182784 1997
36
The roles of the nuclear receptor steroidogenic factor 1 in endocrine differentiation and development. 61
18406748 1996
37
46,XX gonadal agenesis in a neonate with multiple congenital anomalies: case report and review of the literature. 61
7855016 1994
38
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. 61
8187173 1994
39
Gonadal effects of fetal exposure to the azo dye congo red in mice: infertility in female but not male offspring. 61
1459372 1992
40
[Gonadal dysgenesis and agenesis: anatomical expression]. 61
1782464 1991
41
Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome. 61
1806465 1991
42
The XY gonadal agenesis: a case report. 61
3681173 1987
43
Gonadal and müllerian duct agenesis in a girl with 46,X,i(Xq). 61
6700887 1984
44
Two cases of 17 alpha-hydroxylase deficiency--one combined with complete gonadal agenesis. 61
6270940 1981
45
Testicular venography as an accurate indicator of true cryptorchism. 61
6115709 1981
46
Gonadal agenesis in a phenotypically normal female with positive H-Y antigen. 61
7239525 1981
47
Endocrine and androgen-receptor studies in a patient with XY gonadal agenesis. 61
229449 1979
48
An immature stillbirth with lymphangiectasis and gonadal agenesis. 61
264098 1979
49
Sexual differentiation of the hypothalamus in gonadal agenesis and testicular feminization. 61
485227 1979
50
[Functional state of the pituitary gland-ovarian system in gonadal agenesis and dysgenesis]. 61
683968 1978

Variations for Gonadal Agenesis

Expression for Gonadal Agenesis

Search GEO for disease gene expression data for Gonadal Agenesis.

Pathways for Gonadal Agenesis

GO Terms for Gonadal Agenesis

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

# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 8.96 NR5A1 LHX9
2 female gonad development GO:0008585 8.62 NR5A1 LHX9

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific double-stranded DNA binding GO:1990837 8.96 NR5A1 LHX9
2 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 8.62 NR5A1 LHX9

Sources for Gonadal Agenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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