ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
2 associated genes
9 signs/symptoms

Combined immunodeficiency due to STK4 deficiency

Propionic acidemia

STK4	(UniProt - OMIM)		PCCA	(UniProt - OMIM)
			PCCB	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	STK4 STK4	(0.63) (0.63)	PCCA PCCB

Citations in the biomedical literature:

Combined immunodeficiency due to STK4 deficiency		Propionic acidemia
	Synonym(s): - CID due to STK4 deficiency		Synonym(s): - Ketotic hyperglycinemia - Propionic aciduria - Propionyl-CoA carboxylase deficiency

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D056693

Propionic acidemia
	Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Constipation - Hyperammonemia - Hypoglycemia Frequent - Cardiac rhythm disorder / arrhythmia - Hepatomegaly / liver enlargement (excluding storage disease) - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability Occasional - Cardiomyopathy / hypertrophic / dilated
Combined immunodeficiency due to STK4 deficiency
(no data available)