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17q11 microdeletion syndrome

1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Meacham syndrome

1 OMIM reference -
1 associated gene
22 signs/symptoms

17q11 microdeletion syndrome

Meacham syndrome

NF1	(UniProt - OMIM)		WT1	(UniProt - OMIM)
RNF135	(UniProt - OMIM)
SUZ12	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SUZ12	(0.63)	WT1

Citations in the biomedical literature:

17q11 microdeletion syndrome		Meacham syndrome
	Synonym(s): - Del(17)(q11) - Monosomy 17q11 - NF1 microdeletion syndrome - Neurofibromatosis type 1 microdeletion syndrome		Synonym(s): - Meacham-Winn-Culler syndrome - Rhabdomyomatous dysplasia - cardiopathy - genital anomalies

	Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease - Rare skin 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: (no data available)		Epidemiological data: (no data available)

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

Meacham syndrome
	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
17q11 microdeletion syndrome
(no data available)