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46,XY partial gonadal dysgenesis

5 OMIM references -
7 associated genes
9 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

Meacham syndrome

1 OMIM reference -
1 associated gene
22 signs/symptoms

46,XY partial gonadal dysgenesis

Meacham syndrome

GATA4	(UniProt - OMIM)		WT1	(UniProt - OMIM)
MAP3K1	(UniProt - OMIM)
NR0B1	(UniProt - OMIM)
NR5A1	(UniProt - OMIM)
SRY	(UniProt - OMIM)
WT1	(UniProt - OMIM)
WWOX	(UniProt - OMIM)


COMMON GENES	WT1

Citations in the biomedical literature:

46,XY partial gonadal dysgenesis		Meacham syndrome
	Synonym(s): - 46,XY PGD - 46,XY partial testicular dysgenesis		Synonym(s): - Meacham-Winn-Culler syndrome - Rhabdomyomatous dysplasia - cardiopathy - genital anomalies

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare urogenital disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: sporadic		Epidemiological data: (no data available)

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Ambiguous genitalia - Micropenis / small penis / agenesis

46,XY partial gonadal dysgenesis		Meacham syndrome
	Very frequent - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hypospadias / epispadias / bent penis - Mixed gonadal dysgenesis - Testis anomalies Occasional - Cortico-adrenal hypoplasia / insufficiency - Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma) - Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)		Very frequent - Diaphragmatic hernia / defect / agenesis - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Uterine / uterus / Fallopian tubes anomalies - Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation Frequent - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Death in infancy - Hypoplastic left heart / ventricle - Stillbirth / neonatal death - Structural and functional anomalies of the spleen - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anomalous pulmonary venous return - Asplenia / polysplenia / spleen lobulation / accessory spleen - Atrial septal defect / interauricular communication - Dextrocardia / abnormal heart position / cardiac heterotaxia / situs inversus - Ectopic / horseshoe / fused kidneys - Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption - Patent ductus arteriosus - Tetralogy of Fallot / trilogy of Fallot - Transposition of great vessels - Ventricular septal defect / interventricular communication