ODCs

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3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

Congenital atransferrinemia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IGF2	(0.75)	TF

Citations in the biomedical literature:

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15		Congenital atransferrinemia
	Synonym(s): (no synonyms)		Synonym(s): - Congenital hypotransferrinemia

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease

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

	Epidemiological data: Class of prevalence: - Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538259

Congenital atransferrinemia
	Very frequent - Anaemia - Autosomal recessive inheritance Frequent - Immunodeficiency / increased susceptibility to infections / recurrent infections - Storage liver disease Occasional - Arthritis / synovitis / synovial proliferation - Hypothyroidy - Structural anomalies of the cardio-circulatory system - Structural anomalies of the pancreas
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
(no data available)