raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:199241

Pulmonary capillary hemangiomatosis

Type
Disease
Group
Disorder
Inheritance
Autosomal dominant, 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
LangNameSynonyms
enPulmonary capillary hemangiomatosis
frHémangiomatose capillaire pulmonaire
deHämangiomatose, kapilläre pulmonale
esHemangiomatosis capilar pulmonar
itEmangiomatosi capillare polmonare
nlPulmonale capillaire hemangiomatose
ptHemangiomatose pulmonar capilar
plHemangiomatoza kapilarna płucna
csPlicní kapilární hemangiomatóza
ukЛегеневий капілярний гемангіоматоз
zh肺毛细血管瘤
trPulmoner kapiller hemanjiyomatoz
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM234810BTNTvalidated
ICD-10D18.0NTBTattributedvalidated
ICD-11BB01.0NTBTindexvalidated
MONDO0009329Evalidated
MONDO9329Evalidated
MeSHC535861Evalidated
UMLSC0340548Evalidated
MedDRA10077389Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
EIF2AK4Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:19687ENSG0000012882960928015q15.1eukaryotic translation initiation factor 2 alpha kinase 424135949[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Cases/families100 casesWorldwideCase(s)Validated24493495[PMID]
Point prevalenceUnknown—WorldwideClass onlyValidatedORPHANET_24493495[PMID]

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

25 annotations · validated 2021-03-17
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0025104Capillary malformation
HP:0045051Decreased DLCO
HP:0025179Ground-glass opacification on pulmonary HRCT
HP:0030879Interlobular septal thickening on pulmonary HRCT
HP:0002716Lymphadenopathy
HP:0005954Pulmonary capillary hemangiomatosis
Frequent (79-30%)
HP:0030968Abnormal pulmonary vein morphology
HP:0025180Centrilobular ground-glass opacification on pulmonary HRCT
HP:0100759Clubbing of fingers
HP:0000961Cyanosis
HP:0025420Diffuse alveolar hemorrhage
HP:0002094Dyspnea
HP:0004890Elevated pulmonary artery pressure
HP:0002875Exertional dyspnea
HP:0002105Hemoptysis
HP:0012151Hemothorax
HP:0012418Hypoxemia
HP:0100721Mediastinal lymphadenopathy
HP:0010741Pedal edema
HP:0001708Right ventricular failure
Occasional (29-5%)
HP:0002202Pleural effusion
HP:0100598Pulmonary edema
Very rare (<4-1%)
HP:0001698Pericardial effusion
Excluded (0%)
HP:0003493Antinuclear antibody positivity
HP:0032230Cytoplasmic antineutrophil antibody positivity

Run the differential on the 6 obligate / very frequent terms

Annotation source: 31501875[PMID]_27514598[PMID]_24292273[PMID]

7

Sources for this card