ORPHA:31837
Pulmonary venoocclusive disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- All ages
- Status
- active
This disease is described under Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary venoocclusive disease | |
| fr | Maladie veino-occlusive pulmonaire | |
| de | Pulmonale veno-okklusive Krankheit | PVOD |
| es | Enfermedad veno-oclusiva pulmonar | |
| it | Malattia veno-occlusiva polmonare | |
| nl | Pulmonale veno-occlusieve ziekte | |
| pt | Doença venoclusiva pulmonar | |
| pl | Zarostowa choroba żył płucnych | |
| cs | Plicní venookluzivní nemoc | |
| uk | Легенева венооклюзивна хвороба | |
| zh | 肺静脉闭塞病 | |
| tr | Pulmoner venoklüzif hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265450 | E | validated | |
| ICD-10 | J98.4 | NTBT | attributed | validated |
| ICD-11 | BB01.0 | NTBT | index | validated |
| MONDO | 0009937 | E | validated | |
| MeSH | D011668 | E | validated | |
| UMLS | C0034091 | E | validated | |
| GARD | 10153 | E | validated | |
| MedDRA | 10037458 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:431353Pulmonary veno-occlusive disease and/or pulmonary capillary hemangiomatosis
rare genetic diseases; rare respiratory diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMPR2 | Candidate gene tested in | Not yet assessed | HGNC:1078 | ENSG00000204217 | 600799 | 2q33.1-q33.2 | bone morphogenetic protein receptor type 2 | 12446270[PMID]_18626305[PMID] |
| EIF2AK4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19687 | ENSG00000128829 | 609280 | 15q15.1 | eukaryotic translation initiation factor 2 alpha kinase 4 | 24292273[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.015 / 100 000 | Europe | Value and class | Validated | 16456139[PMID]_21510732[PMID]_ [EXPERT] |
| Annual incidence | <1 / 1 000 000 | 0.015 / 100 000 | France | Value and class | Validated | 21510732[PMID]_16456139[PMID] |
| Point prevalence | Unknown | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/31837
- This record as JSON: /data/d/31837.json