MCID: 46X002
MIFTS: 18

46 Xx Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for 46 Xx Gonadal Dysgenesis

MalaCards integrated aliases for 46 Xx Gonadal Dysgenesis:

Name: 46 Xx Gonadal Dysgenesis 12
Gonadal Dysgenesis, 46,xx 44

Classifications:



External Ids:

Disease Ontology 12 DOID:14450
MeSH 44 D023961
NCIt 50 C120197
UMLS 73 C0949595

Summaries for 46 Xx Gonadal Dysgenesis

Disease Ontology : 12 A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female.

MalaCards based summary : 46 Xx Gonadal Dysgenesis, also known as gonadal dysgenesis, 46,xx, is related to 46,xx sex reversal 1 and ovarian dysgenesis 1. An important gene associated with 46 Xx Gonadal Dysgenesis is MRPS22 (Mitochondrial Ribosomal Protein S22). Affiliated tissues include ovary and skin.

Related Diseases for 46 Xx Gonadal Dysgenesis

Diseases in the Gonadal Dysgenesis family:

46 Xy Gonadal Dysgenesis 46 Xx Gonadal Dysgenesis

Diseases related to 46 Xx Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 46,xx sex reversal 1 32.1 MRPS22 NR5A1
2 ovarian dysgenesis 1 10.2
3 gonadal dysgenesis 10.2

Symptoms & Phenotypes for 46 Xx Gonadal Dysgenesis

Drugs & Therapeutics for 46 Xx Gonadal Dysgenesis

Search Clinical Trials , NIH Clinical Center for 46 Xx Gonadal Dysgenesis

Cochrane evidence based reviews: gonadal dysgenesis, 46,xx

Genetic Tests for 46 Xx Gonadal Dysgenesis

Anatomical Context for 46 Xx Gonadal Dysgenesis

MalaCards organs/tissues related to 46 Xx Gonadal Dysgenesis:

41
Ovary, Skin

Publications for 46 Xx Gonadal Dysgenesis

Articles related to 46 Xx Gonadal Dysgenesis:

(show all 12)
# Title Authors Year
1
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. ( 28216916 )
2016
2
Pure gonadal dysgenesis (46 XX type) with a familial pattern. ( 26430655 )
2015
3
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. ( 22907560 )
2012
4
Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report. ( 21253547 )
2010
5
46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. ( 11223846 )
2001
6
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. ( 10325262 )
1999
7
46,XX gonadal dysgenesis with epibulbar dermoid. ( 1909490 )
1991
8
Familial 46,XX gonadal dysgenesis. ( 2880817 )
1987
9
Familial 46,XX gonadal dysgenesis. ( 7202756 )
1981
10
46,XX gonadal dysgenesis associated with congenital nerve deafness. ( 42575 )
1979
11
Twins discordant for 46,XX gonadal dysgenesis. ( 557003 )
1977
12
46, XX gonadal dysgenesis and ovarian hypoplasia. ( 4844641 )
1974

Variations for 46 Xx Gonadal Dysgenesis

Expression for 46 Xx Gonadal Dysgenesis

Search GEO for disease gene expression data for 46 Xx Gonadal Dysgenesis.

Pathways for 46 Xx Gonadal Dysgenesis

GO Terms for 46 Xx Gonadal Dysgenesis

Sources for 46 Xx Gonadal Dysgenesis

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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