ODCs

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1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
11 signs/symptoms

Reticular dysgenesis

Pyruvate dehydrogenase E3 deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AK2	(0.49)	DLD

Citations in the biomedical literature:

Reticular dysgenesis		Pyruvate dehydrogenase E3 deficiency
	Synonym(s): - AK2 deficiency - Congenital aleukocytosis - De Vaal disease - Generalized hematopoietic hypoplasia - SCID with leukopenia - Severe combined immunodeficiency with leukopenia		Synonym(s): - DLD deficiency - Dihydrolipoamide dehydrogenase deficiency - E3-deficient maple syrup urine disease

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Inborn errors of metabolism - 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): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: child / adolescent Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: C538361		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal recessive inheritance

Reticular dysgenesis		Pyruvate dehydrogenase E3 deficiency
	Very frequent - Acute diarrhea - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anaemia - Chronic / relapsing otitis - Hearing loss / hypoacusia / deafness - Immunodeficiency / increased susceptibility to infections / recurrent infections - Leukopenia / hypoleukocytosis - Polynuclear cells / neutrophils anomalies / neutropenia - Repeat respiratory infections - Respiratory chain / mitochondrial anomalies - Sepsis severe / septicemia - Severe combined immune deficiency syndrome / SCID - T-cell deficiency / cellular immunity deficiency - Thymic aplasia / hypoplasia Frequent - Early death / lethality - Failure to thrive / difficulties for feeding in infancy / growth delay - Fever / chilling - Malabsorption / chronic diarrhea / steatorrhea - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Chronic skin infection / ulcerations / ulcers / cancrum - Cutaneous rash - Dehydration / hydroelectrolytic loss		Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Organic acid metabolism anomalies Frequent - Abnormal gait - Hepatomegaly / liver enlargement (excluding storage disease) - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Movement disorder Occasional - Hepatocellular liver disease / hepatic failure - Hypoglycemia