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Reticular dysgenesis

1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 1

Pseudohypoaldosteronism type 2E

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

Reticular dysgenesis

Pseudohypoaldosteronism type 2E

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	AK2	(0.63)	CUL3

Citations in the biomedical literature:

Reticular dysgenesis		Pseudohypoaldosteronism type 2E
	Synonym(s): - AK2 deficiency - Congenital aleukocytosis - De Vaal disease - Generalized hematopoietic hypoplasia - SCID with leukopenia - Severe combined immunodeficiency with leukopenia		Synonym(s): - PHA2E

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease

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

	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: - Average age of death: - Type of inheritance: autosomal dominant

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

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
Pseudohypoaldosteronism type 2E
(no data available)