Pulmonary capillary hemangiomatosis

General Information (adopted from Orphanet):

Synonyms, Signs: PVOD2
PCH
Pulmonary veno-occlusive disease 2
Number of Symptoms 41
OrphanetNr: 199241
OMIM Id: 234810
ICD-10: D18.0
UMLs: C0340548
MeSH: C535861
MedDRA:
Snomed: 233949008

Prevalence, inheritance and age of onset:

Prevalence: < 100 cases
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Pulmonary arterial hypertension
 -Rare respiratory disease
Rare genetic respiratory disease
 -Rare genetic disease

Comment:

Pulmonary capillary hemangiomatosis (PCH), also called PVOD2, is caused by homozygous or compound heterozygous mutations in the EIF2AK4 gene. Patients with PCH (PVOD2) carrying EIF2AK4 mutations were significantly younger at the time of diagnosis compared to patients with PVOD who do not carry such mutations. (PMID:24292273) PCH (PVOD2) is a rare cause of pulmonary hypertension characterized by extensive proliferation of pulmonary capillaries within alveolar septae. Clinically, PCH and PVOD1 are indistinguishable. Therefore, histology has been the only reliable means of establishing the diagnosis. (PMID:25611112)

Symptom Information: Sort by abundance 

1
 (HPO:0012378) Fatigue 25611112 IBIS 50 / 7739
2
 (HPO:0001217) Clubbing 23857691 IBIS 39 / 7739
3
 (HPO:0100749) Chest pain 25611112 IBIS 92 / 7739
4
 (HPO:0005954) Pulmonary capillary hemangiomatosis 25611112 IBIS 2 / 7739
5
 (HPO:0000961) Cyanosis 23857691 IBIS 60 / 7739
6
 (HPO:0001708) Right ventricular failure 12441898 IBIS 11 / 7739
7
 (HPO:0001640) Cardiomegaly 25611112 IBIS 81 / 7739
8
 (HPO:0002092) Pulmonary hypertension 25611112 IBIS 109 / 7739
9
 (HPO:0001279) Syncope 23857691 IBIS 94 / 7739
10
 (HPO:0011718) Abnormality of the pulmonary veins 9448026 IBIS 6 / 7739
11
 (HPO:0001667) Right ventricular hypertrophy 20000007 IBIS 23 / 7739
12
 (HPO:0005312) Pulmonary aterial intimal fibrosis 3770733 IBIS 3 / 7739
13
 (HPO:0001707) Abnormality of the right ventricle 25260663 IBIS 7 / 7739
14
 (HPO:0004927) Pulmonary artery dilatation 23857691 IBIS 4 / 7739
15
 (HPO:0004414) Abnormality of the pulmonary artery 25611112 IBIS 50 / 7739
16
 (HPO:0004890) Elevated pulmonary artery pressure 17495297 IBIS 8 / 7739
17
 (HPO:0003115) Abnormal EKG 25260663 IBIS 44 / 7739
18
 (HPO:0100598) Pulmonary edema 17882042 IBIS 17 / 7739
19
 (HPO:0012398) Peripheral edema 23857691 IBIS 12 / 7739
20
 (HPO:0002202) Pleural effusion 25260663; 730121 IBIS 22 / 7739
21
 (HPO:0002105) Hemoptysis 23857691 IBIS 30 / 7739
22
 (HPO:0006518) Pulmonary venous occlusion 25611112 IBIS 2 / 7739
23
 (HPO:0002088) Abnormality of lung morphology 25611112 IBIS 11 / 7739
24
 (HPO:0012415) Abnormal blood gas level 25611112 IBIS 9 / 7739
25
 (HPO:0002207) Diffuse reticular or finely nodular infiltrations 25611112 IBIS 11 / 7739
26
 (HPO:0002094) Dyspnea 25142489 IBIS 132 / 7739
27
 (HPO:0002789) Tachypnea 25260663 IBIS 48 / 7739
28
 (HPO:0002093) Respiratory insufficiency 12113747 IBIS 410 / 7739
29
 (HPO:0012418) Hypoxemia 25260663 IBIS 18 / 7739
30
 (HPO:0002113) Pulmonary infiltrates 25611112 IBIS 36 / 7739
31
 (HPO:0002716) Lymphadenopathy 25611112 IBIS 129 / 7739
32
 (MedDRA:10037313) Pulmonary alveolar haemorrhage 23857691 IBIS 2 / 7739
33
 (OMIM) Thickened interlobular septae seen on CT 25611112 IBIS 2 / 7739
34
 (OMIM) [DEL] Radiograph shows bilateral diffuse interstitial infiltrates 25611112 IBIS 2 / 7739
35
 (OMIM) [DEL] Thickened alveolar septa 25611112 IBIS 3 / 7739
36
 (HPO:0012735) Cough 25611112 IBIS 24 / 7739
37
 (MedDRA:10033318) Oxygen saturation decreased 22937432 IBIS 4 / 7739
38
 (MedDRA:10065906) Carbon monoxide diffusing capacity decreased 23857691 IBIS 8 / 7739
39
 (OMIM) Centrilobular ground glass opacities seen on CT 25611112 IBIS 3 / 7739
40
 (OMIM) Reduced diffusion capacity 25611112 IBIS 8 / 7739
41
 (MedDRA:10062049) Lymphocytic infiltration 16819327 IBIS 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: