ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
23 signs/symptoms

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

Reticular dysgenesis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	IDH1	(0.49)	AK2

Citations in the biomedical literature:

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		Reticular dysgenesis
	Synonym(s): (no synonyms)		Synonym(s): - AK2 deficiency - Congenital aleukocytosis - De Vaal disease - Generalized hematopoietic hypoplasia - SCID with leukopenia - Severe combined immunodeficiency with leukopenia

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

	Classification (ICD10): (no data available)		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: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

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

Reticular dysgenesis
	Very frequent - Acute diarrhea - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anaemia - Autosomal recessive inheritance - 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
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
(no data available)