Disease: 46,Xy Complete Gonadal Dysgenesis

Name 46,Xy Complete Gonadal Dysgenesis

Synonyms -

Classification cardiac, developmental, endocrine, genetic, gynaecological and obstetric, urogenital

Phenotypes Hypogonadotropic hypogonadism; Male pseudohermaphroditism; Polycystic ovaries; Testicular dysgenesis

Associated Genes NR5A1 (Withdrawn symbols: AD4BP, ELP, FTZ1, FTZF1, SF-1, SF1, hSF-1 ) , DHH (Withdrawn symbols: HHG-3, MGC35145 ) , SOX9 (Withdrawn symbols: CMD1, CMPD1, SRA1 ) , DHX37 (Withdrawn symbols: DDX37, Dhr1, KIAA1517, MGC2695, MGC4322 ) , WT1 (Withdrawn symbols: AWT1, GUD, NPHS4, WAGR, WIT-2 ) , MAP3K1 (Withdrawn symbols: MAPKKK1, MEKK, MEKK1 ) , DMRT1 (Withdrawn symbols: CT154, DMT1 ) , CBX2 (Withdrawn symbols: CDCA6, MGC10561 ) , SRY (Withdrawn symbols: TDF ) , NR0B1 (Withdrawn symbols: AHC, AHCH, DAX1, DSS )

Mouse Orthologs Nr5a1 (Withdrawn symbols: Ftzf1 ) , Dhh (Withdrawn symbols: C78960 ) , Sox9 (Withdrawn symbols: 2010306G03Rik, AV220920 ) , Dhx37 (Withdrawn symbols: Gm1050, Gm451 ) , Wt1 (Withdrawn symbols: D630046I19Rik, Wt-1 ) , Map3k1 (Withdrawn symbols: Mekk ) , Dmrt1 , Cbx2 , Sry (Withdrawn symbols: Tdf, Tdy ) , Nr0b1 (Withdrawn symbols: Ahc, Ahch )

Source ORPHA:242 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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