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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
22 signs/symptoms

Pseudohypoaldosteronism type 2E

ICF syndrome

CUL3	(UniProt - OMIM)		DNMT3B	(UniProt - OMIM)
			ZBTB24	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	DNMT3B

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		ICF syndrome
	Synonym(s): - PHA2E		Synonym(s): - Immunodeficiency - centromeric instability - facial anomalies

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

ICF syndrome
	Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Autosomal recessive inheritance - Fragile chromosomal site (other than Xq28) - Immunodeficiency / increased susceptibility to infections / recurrent infections - Micrognathia / retrognathia / micrognathism / retrognathism - Repeat respiratory infections - Short stature / dwarfism / nanism Frequent - Anaemia - Communicating hydrocephaly - Depressed nasal bridge - Intellectual deficit / mental / psychomotor retardation / learning disability - Lymphopenia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Malabsorption / chronic diarrhea / steatorrhea - Polynuclear cells / neutrophils anomalies / neutropenia - T-cell deficiency / cellular immunity deficiency Occasional - Epicanthic folds - Flat face - Hypertelorism - Low set ears / posteriorly rotated ears - Macroglossia / tongue protrusion / proeminent / hypertrophic - Umbilical hernia
Pseudohypoaldosteronism type 2E
(no data available)