ODCs

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2 OMIM references -
2 associated genes
22 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

Weaver syndrome

1 OMIM reference -
2 associated genes
37 signs/symptoms

ICF syndrome

Weaver syndrome

DNMT3B	(UniProt - OMIM)		EZH2	(UniProt - OMIM)
ZBTB24	(UniProt - OMIM)		NSD1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DNMT3B	(0.87)	EZH2

Citations in the biomedical literature:

ICF syndrome		Weaver syndrome
	Synonym(s): - Immunodeficiency - centromeric instability - facial anomalies		Synonym(s): - Camptodactyly - overgrowth - unusual facies

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		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: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536687


COMMON SIGNS	- Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism

ICF syndrome		Weaver syndrome
	Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Autosomal recessive inheritance - Fragile chromosomal site (other than Xq28) - Immunodeficiency / increased susceptibility to infections / recurrent infections - Repeat respiratory infections - Short stature / dwarfism / nanism Frequent - Anaemia - Communicating hydrocephaly - Depressed nasal bridge - Lymphopenia - Malabsorption / chronic diarrhea / steatorrhea - Polynuclear cells / neutrophils anomalies / neutropenia - T-cell deficiency / cellular immunity deficiency Occasional - Epicanthic folds - Flat face - Macroglossia / tongue protrusion / proeminent / hypertrophic - Umbilical hernia		Very frequent - Abnormal cry / voice / phonation disorder / nasal speech - Advanced bone age - Broad forehead - Hypertonia / spasticity / rigidity / stiffness - Long philtrum - Long / large ear - Loose skin / skin relaxation / excess skin / creases - Metaphyseal anomaly - 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