Details of Disease | DrugMAP

General Information of Disease (ID: DISJIUZP)

Disease Name	Pulmonary venoocclusive disease 2
Synonyms	PVOD2; pulmonary venoocclusive disease 2, autosomal recessive; hemangiomatosis, familial pulmonary capillary; familial pulmonary capillary hemangiomatosis; pulmonary capillary hemangiomatosis
Definition	A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal.
Disease Hierarchy	DIS62DX8: Pulmonary venoocclusive disease DISJIUZP: Pulmonary venoocclusive disease 2
Disease Identifiers	MONDO ID MONDO_0009329 MESH ID C535861 UMLS CUI C0340848 OMIM ID 234810 MedGen ID 90956 Orphanet ID 199241 SNOMED CT ID 234161007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EIF2AK4	TT9U4EP	Strong	Autosomal recessive	[1]
EIF2AK4	TT9U4EP	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EIF2AK4	OTLE1JY8	Strong	Autosomal recessive	[1]
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References

1	The GCN2 eIF2alpha kinase is required for adaptation to amino acid deprivation in mice. Mol Cell Biol. 2002 Oct;22(19):6681-8. doi: 10.1128/MCB.22.19.6681-6688.2002.
2	Response by Hadinnapola et al to Letter Regarding Article, "Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension".Circulation. 2018 May 29;137(22):2413-2414. doi: 10.1161/CIRCULATIONAHA.118.033970.