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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

Hereditary orotic aciduria

1 OMIM reference -
1 associated gene
16 signs/symptoms

Pseudohypoaldosteronism type 2E

Hereditary orotic aciduria

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Hereditary orotic aciduria
	Synonym(s): - PHA2E		Synonym(s): - Oroticaciduria - Orotidylic decarboxylase deficiency - Uridine monophosphate synthetase deficiency

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic 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: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537136

Hereditary orotic aciduria
	Very frequent - Aminoacid metabolism anomalies / aminoaciduria - Anaemia - Autosomal recessive inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability Frequent - Abnormal toenails - Broad nasal root - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypertelorism - Immunodeficiency / increased susceptibility to infections / recurrent infections - Low set ears / posteriorly rotated ears - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Patent ductus arteriosus - Repeat respiratory infections - Splenomegaly - Storage liver disease
Pseudohypoaldosteronism type 2E
(no data available)