ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Severe combined immunodeficiency due to DNA-PKcs deficiency

Alpha-thalassemia - myelodysplastic syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PRKDC	(0.63)	ATRX

Citations in the biomedical literature:

Severe combined immunodeficiency due to DNA-PKcs deficiency		Alpha-thalassemia - myelodysplastic syndrome
	Synonym(s): - SCID due to DNA-PKcs deficiency		Synonym(s): - ATMDS - Acquired HbH disease - Acquired hemoglobin H disease

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare genetic disease - Rare hematologic disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: sporadic

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

Alpha-thalassemia - myelodysplastic syndrome
	Very frequent - Asthenia / fatigue / weakness - Microcytic anemia - Myelodysplastic syndrome - Polynuclear cells / neutrophils anomalies / neutropenia - Thrombocytopenia / thrombopenia Frequent - Bruisability - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Acute leukemia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Neoplasms / tumors - Splenomegaly
Severe combined immunodeficiency due to DNA-PKcs deficiency
(no data available)