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Pseudohypoaldosteronism type 2E

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

PROTEIN INTERACTIONS: 1

Hoyeraal-Hreidarsson syndrome

1 OMIM reference -
4 associated genes
28 signs/symptoms

Pseudohypoaldosteronism type 2E

Hoyeraal-Hreidarsson syndrome

CUL3	(UniProt - OMIM)		DKC1	(UniProt - OMIM)
			RTEL1	(UniProt - OMIM)
			TERT	(UniProt - OMIM)
			TINF2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL3	(0.63)	RTEL1

Citations in the biomedical literature:

Pseudohypoaldosteronism type 2E		Hoyeraal-Hreidarsson syndrome
	Synonym(s): - PHA2E		Synonym(s): - Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia

	Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic disease - Rare immune disease - Rare neurologic 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: child / adolescent Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536068

Hoyeraal-Hreidarsson syndrome
	Very frequent - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Failure to thrive / difficulties for feeding in infancy / growth delay - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Purpura / petichiae - Short stature / dwarfism / nanism - Thrombocytopenia / thrombopenia - X-linked recessive inheritance Frequent - Anaemia - Clotting / hemostasis disorders - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Decreased hair pigmentation / hypopigmentation of hair - Diffuse / generalised skin hyperpigmentation / melanoderma - Dilated cerebral ventricles without hydrocephaly - Enanthema / aphtosa / aphta / leukoplakia - Hypertonia / spasticity / rigidity / stiffness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Nails anomalies - Rippled skin Occasional - Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Bone marrow failure / pancytopenia - Intracranial / cerebral calcifications - Neoplasms / tumors - White cell disorders
Pseudohypoaldosteronism type 2E
(no data available)