ODCs

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5 OMIM references -
4 associated genes
11 signs/symptoms

PROTEIN INTERACTIONS: 2

Weaver syndrome

1 OMIM reference -
2 associated genes
37 signs/symptoms

Nephroblastoma

Weaver syndrome

DIS3L2	(UniProt - OMIM)		EZH2	(UniProt - OMIM)
H19	(OMIM)		NSD1	(UniProt - OMIM)
POU6F2	(UniProt - OMIM)
WT1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	H19 WT1	(0.74) (0.63)	EZH2 EZH2

Citations in the biomedical literature:

Nephroblastoma		Weaver syndrome
	Synonym(s): - Renal embryonic tumor - Wilms tumor		Synonym(s): - Camptodactyly - overgrowth - unusual facies

	Classification (Orphanet): - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: any age Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 5 OMIM references - 1 MeSH reference: D009396		External references: 1 OMIM reference - 1 MeSH reference: C536687

Nephroblastoma		Weaver syndrome
	Very frequent - Acute abdominal pain / colic - Kidney / renal neoplasm / tumor / carcinoma / cancer - Neoplasms / tumors Occasional - Aniridia / iris hypoplasia - Chronic arterial hypertension - Fever / chilling - Hematuria / microhematuria - Hepatic / liver neoplasm / tumor / carcinoma / cancer - Lung / bronchopulmonary neoplasm / tumor / carcinoma / cancer - Lymphadenopathy / polyadenopathies - Weight loss / loss of appetite / break in weight curve / general health alteration		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Advanced bone age - Broad forehead - Hypertelorism - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long philtrum - Long / large ear - Loose skin / skin relaxation / excess skin / creases - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Tall stature / gigantism / growth acceleration - Thin / hypoplastic toenails - Thin / hypoplastic / hyperconvex fingernails Frequent - Broad foot - Broad / bifid thumb - Camptodactyly of fingers - Failure to thrive / difficulties for feeding in infancy / growth delay - Fine hair - Inguinal / inguinoscrotal / crural hernia - Large hand - Philtrum deeply grooved - Restricted joint mobility / joint stiffness / ankylosis - Round face Occasional - Autosomal dominant inheritance - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Micropenis / small penis / agenesis - Pes cavus - Scoliosis - Syndactyly of fingers / interdigital palm - Talipes-varus / metatarsal varus - Undescended / ectopic testes / cryptorchidia / unfixed testes - Wide space between 1st-2nd toes