Pulmonary venoocclusive disease 2, autosomal recessive

Preferred Label : Pulmonary venoocclusive disease 2, autosomal recessive;

Symbol : PVOD2;

CISMeF acronym : PVOD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hemangiomatosis, familial pulmonary capillary;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the eukaryotic translation initiation factor 2-alpha kinase 4 gene (EIF2AK4, 609280.0001);

Prefixed ID : #234810;

Détails

Origin ID

234810;

UMLS CUI

C0340848;

Automatic exact mappings (from CISMeF team)
- Pulmonary capillary haemangiomatosis [ICD-11 More detail]
- Pulmonary capillary haemangiomatosis [MedDRA Preferred Term]
- Pulmonary capillary hemangiomatosis [MedDRA LLT]
Currated CISMeF NLP mapping
- Familial pulmonary capillary hemangiomatosis (disorder) [SNOMED CT concept]
- Hemangiomatosis, familial pulmonary capillary [MeSH concept]
- Pulmonary capillary hemangiomatosis [ORDO Disease]
- Pulmonary capillary hemangiomatosis [HPO term]
- Pulmonary capillary hemangiomatosis (disorder) [SNOMED CT concept]
- hemangiomatosis, familial pulmonary capillary [MeSH Supplementary Concept]
Genes related to phenotype
- Eukaryotic translation initiation factor 2-alpha kinase 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Centrilobular ground-glass opacification on pulmonary HRCT [HPO term]
- Chronic fatigue [HPO term]
- Cough [HPO term]
- Decreased DLCO [HPO term]
- Dyspnea [HPO term]
- Juvenile onset [HPO term]
- Mediastinal lymphadenopathy [HPO term]
- Middle age onset [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary capillary hemangiomatosis [HPO term]
- Pulmonary venous occlusion [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Pulmonary capillary hemangiomatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial pulmonary capillary hemangiomatosis (disorder) [SNOMED CT concept]
- Hemangiomatosis, familial pulmonary capillary [MeSH concept]
- hemangiomatosis, familial pulmonary capillary [MeSH Supplementary Concept]

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