Aliases & Classifications for Gonadal Agenesis

MalaCards integrated aliases for Gonadal Agenesis:

Name: Gonadal Agenesis 57 55

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
gonadal agenesis:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 600171
MedGen 42 C0949331
SNOMED-CT via HPO 69 258211005 287085006 42030000

Summaries for Gonadal Agenesis

MalaCards based summary : Gonadal Agenesis is related to testicular regression syndrome and pagod syndrome. An important gene associated with Gonadal Agenesis is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1). Affiliated tissues include hypothalamus, testes and kidney, and related phenotype is abnormality of the genitourinary system.

Description from OMIM: 600171

Related Diseases for Gonadal Agenesis

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

# Related Disease Score Top Affiliating Genes
1 testicular regression syndrome 11.2
2 pagod syndrome 11.0
3 mayer-rokitansky-kuster-hauser syndrome 9.7
4 hermaphroditism 9.7
5 47, xxy 9.7
6 lymphangiectasis 9.7
7 frasier syndrome 9.0 LHX9 NR5A1

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



Diseases related to Gonadal Agenesis

Symptoms & Phenotypes for Gonadal Agenesis

Symptoms via clinical synopsis from OMIM:

57
GU:
gonadal agenesis
normal female external genitalia
hypoplastic mullerian derivatives


Clinical features from OMIM:

600171

Human phenotypes related to Gonadal Agenesis:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the genitourinary system 32 HP:0000119

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:

41
Hypothalamus, Testes, Kidney

Publications for Gonadal Agenesis

Articles related to Gonadal Agenesis:

(show all 21)
# Title Authors Year
1
Gonadal agenesis with hypoplastic paramesonephric ducts (PMNDs) derivatives in dizygotic twins. ( 27379817 )
2016
2
Management of an unusual case of atypical Mayer-Rokitansky-Kuster-Hauser syndrome, with unilateral gonadal agenesis, solitary ectopic pelvic kidney, and pelviureteric junction obstruction. ( 17093891 )
2007
3
A rare case of gonadal agenesis with paramesonephric derivatives in a patient with a normal female karyotype. ( 15652909 )
2005
4
Mayer-Rokitansky-KA1ster-Hauser syndrome associated with unilateral gonadal agenesis. A case report. ( 14686026 )
2003
5
Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome. ( 11779614 )
2002
6
Absence of mutations involving the LIM homeobox domain gene LHX9 in 46,XY gonadal agenesis and dysgenesis. ( 11397841 )
2001
7
Gonadal agenesis in XX and XY sisters: evidence for the involvement of an autosomal gene. ( 7977459 )
1994
8
46,XX gonadal agenesis in a neonate with multiple congenital anomalies: case report and review of the literature. ( 7855016 )
1994
9
Gonadal agenesis in a 46,XY female with multiple malformations and positive testing for the sex-determining region of the Y chromosome. ( 1806465 )
1991
10
The XY gonadal agenesis: a case report. ( 3681173 )
1987
11
Two cases of 17 alpha-hydroxylase deficiency--one combined with complete gonadal agenesis. ( 6270940 )
1981
12
Gonadal agenesis in a phenotypically normal female with positive H-Y antigen. ( 7239525 )
1981
13
Endocrine and androgen-receptor studies in a patient with XY gonadal agenesis. ( 229449 )
1979
14
An immature stillbirth with lymphangiectasis and gonadal agenesis. ( 264098 )
1979
15
Sexual differentiation of the hypothalamus in gonadal agenesis and testicular feminization. ( 485227 )
1979
16
Endocrine studies in a phenotypic girl with XY gonadal agenesis. ( 956338 )
1976
17
Endocrine and metabolic studies in an XY patient with gonadal agenesis. ( 4278085 )
1974
18
The XY gonadal agenesis syndrome. ( 4774539 )
1973
19
Gynecologic and cytogenetic aspects of gonadal agenesis and dysgenesis. ( 5451134 )
1970
20
An equine intersex with unilateral gonadal agenesis. ( 4391028 )
1969
21
Sex differences in human nuclei with particular reference to the Klinefelter syndrome, gonadal agenesis and other types of hermaphroditism. ( 13381386 )
1956

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 LHX9 NR5A1
2 female gonad development GO:0008585 8.62 LHX9 NR5A1

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 8.62 LHX9 NR5A1

Sources for Gonadal Agenesis

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
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