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Meacham syndrome

1 OMIM reference -
1 associated gene
38 connected diseases
22 signs/symptoms

Disease	Type of connection
46,XY partial gonadal dysgenesis
Denys-Drash syndrome
Desmoplastic small round cell tumor
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frasier syndrome
Nephroblastoma
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
WAGR syndrome
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
17q11 microdeletion syndrome
Cerebellar ataxia-deafness-narcolepsy syndrome
Dedifferentiated liposarcoma
Familial isolated hyperparathyroidism
Familial parathyroid adenoma
Multiple endocrine neoplasia type 1
Weaver syndrome
Well-differentiated liposarcoma
Zollinger-Ellison syndrome
Familial isolated dilated cardiomyopathy
Renal coloboma syndrome
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation

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

Epidemiological data: (no data available)		External references: 1 OMIM reference - No MeSH references

Gene symbol	UniProt reference	OMIM reference
WT1	P19544	607102

Very frequent

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