MCID: PLM132
MIFTS: 30

Pulmonary Venoocclusive Disease 2

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Cardiovascular diseases

Aliases & Classifications for Pulmonary Venoocclusive Disease 2

MalaCards integrated aliases for Pulmonary Venoocclusive Disease 2:

Name: Pulmonary Venoocclusive Disease 2 54 24
Familial Pulmonary Capillary Hemangiomatosis 50 71 29
Pulmonary Capillary Hemangiomatosis 56 29 69
Pulmonary Venoocclusive Disease 2, Autosomal Recessive 71 69
Hemangiomatosis, Familial Pulmonary Capillary 50 24
Pvod2 71

Characteristics:

Orphanet epidemiological data:

56
pulmonary capillary hemangiomatosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in the third decade (range 11 to 50 years)
fatal without lung transplant


HPO:

32
pulmonary venoocclusive disease 2:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare respiratory diseases


External Ids:

OMIM 54 234810
Orphanet 56 ORPHA199241
MESH via Orphanet 43 C535861
UMLS via Orphanet 70 C0340548
ICD10 via Orphanet 34 D18.0
MedGen 40 C0340848

Summaries for Pulmonary Venoocclusive Disease 2

OMIM : 54
Pulmonary venoocclusive disease-2 is an autosomal recessive subtype of primary pulmonary hypertension (PPH; see 178600). It is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. The disorder can cause occult alveolar hemorrhage. High-resolution CT imaging of the chest shows patchy centrilobular ground-glass opacities, septal lines, and lymph node enlargement (summary by Eyries et al., 2014). For a discussion of genetic heterogeneity of pulmonary venoocclusive disease, see PVOD1 (265450). (234810)

MalaCards based summary : Pulmonary Venoocclusive Disease 2, also known as familial pulmonary capillary hemangiomatosis, is related to pulmonary hypertension, and has symptoms including dyspnea, cough and pulmonary arterial hypertension. An important gene associated with Pulmonary Venoocclusive Disease 2 is EIF2AK4 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4). The drugs Menadione and Phytonadione have been mentioned in the context of this disorder. Affiliated tissues include lymph node, lung and heart.

UniProtKB/Swiss-Prot : 71 Pulmonary venoocclusive disease 2, autosomal recessive: A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension.

Related Diseases for Pulmonary Venoocclusive Disease 2

Diseases in the Pulmonary Venoocclusive Disease family:

Pulmonary Venoocclusive Disease 1 Pulmonary Venoocclusive Disease 2

Diseases related to Pulmonary Venoocclusive Disease 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 9.9

Symptoms & Phenotypes for Pulmonary Venoocclusive Disease 2

Symptoms via clinical synopsis from OMIM:

54

Respiratory:
dyspnea
cough
decreased carbon monoxide diffusion capacity

Respiratory- Lung:
occult alveolar hemorrhage
ground-glass opacities seen on ct
septal lines seen on ct
lymph node enlargement seen on ct
pulmonary venoocclusive disease seen on biopsy
more
Cardiovascular- Vascular:
pulmonary arterial hypertension


Clinical features from OMIM:

234810

Human phenotypes related to Pulmonary Venoocclusive Disease 2:

32
id Description HPO Frequency HPO Source Accession
1 dyspnea 32 HP:0002094
2 cough 32 HP:0012735
3 pulmonary arterial hypertension 32 HP:0002092
4 pulmonary capillary hemangiomatosis 32 HP:0005954
5 pulmonary venous occlusion 32 HP:0006518

UMLS symptoms related to Pulmonary Venoocclusive Disease 2:


coughing, dyspnea

Drugs & Therapeutics for Pulmonary Venoocclusive Disease 2

Drugs for Pulmonary Venoocclusive Disease 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
2
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
3 Anticoagulants Phase 4,Phase 3
4 Antifibrinolytic Agents Phase 4
5 Coagulants Phase 4
6 Fibrin Fibrinogen Degradation Products Phase 4
7 Fibrin fragment D Phase 4
8 Hemostatics Phase 4
9 Vitamins Phase 4
10 Menaquinone Nutraceutical Phase 4
11 naphthoquinone Nutraceutical Phase 4
12 Vitamin K Nutraceutical Phase 4
13
Dalteparin Approved Phase 3 9005-49-6
14
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
15
Ethanol Approved Phase 3 64-17-5 702
16 calcium heparin Phase 3
17 Fibrinolytic Agents Phase 3
18 Heparin, Low-Molecular-Weight Phase 3
19 Cola Nutraceutical Phase 3
20
Ursodeoxycholic acid Approved, Investigational Phase 2 128-13-2 31401
21
Bevacizumab Approved, Investigational Phase 1, Phase 2 216974-75-3
22 Orange Approved, Nutraceutical Phase 1, Phase 2
23 Cholagogues and Choleretics Phase 2
24 Gastrointestinal Agents Phase 2
25 Angiogenesis Inhibitors Phase 1, Phase 2
26 Angiogenesis Modulating Agents Phase 1, Phase 2
27 Anti-Bacterial Agents Phase 1, Phase 2
28 Imatinib Mesylate Phase 1, Phase 2 123596
29 Protein Kinase Inhibitors Phase 1, Phase 2
30
Bosentan Approved, Investigational 147536-97-8 104865
31
Cocaine Approved, Illicit 50-36-2 5760 446220
32
Methamphetamine Approved, Illicit 537-46-2 10836
33
Acetylcholine Approved 51-84-3 187
34
Nitroprusside Approved 15078-28-1 11963622
35
Verapamil Approved 52-53-9 2520
36
Bradykinin Investigational 58-82-2 439201
37 Antihypertensive Agents
38 Endothelin Receptor Antagonists
39 Kininogens
40 Tryptophan Nutraceutical

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 DULCIS (D-dimer and ULtrasonography in Combination Italian Study) Completed NCT00954395 Phase 4
2 Standard Therapy With or Without Dalteparin in Treating Patients With Advanced Breast, Lung, Colorectal, or Prostate Cancer Completed NCT00003674 Phase 3 dalteparin;standard therapy
3 Effect of Aerobic EXercise on MiCroVAscular RarefacTION in Chinese Mild HyperteNsive Patients(EXCAVATION-CHN1) Recruiting NCT02817204 Phase 3
4 Ursodeoxycholic Acid in Chronic Heart Failure Unknown status NCT00285597 Phase 2 Ursodeoxycholic Acid
5 Chemotherapy Toxicity Reduction Via Urea Cycle Support Completed NCT00223730 Phase 2 Citrulline;Placebo
6 Pilot Study Using Avastin and Gleevec to Treat the Progression of Intraluminal Pulmonary Vein Stenosis Active, not recruiting NCT00891527 Phase 1, Phase 2 Bevacizumab (Avastin) and Imatinib Mesylate (Gleevec)
7 A Study to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Single Doses of GSK2256294 in Healthy Volunteers, and Single and Repeat Doses of GSK2256294 in Adult Male Moderately Obese Smokers Completed NCT01762774 Phase 1 GSK2256294;Placebo
8 Technical Development of Cardiovascular Magnetic Resonance Imaging Recruiting NCT00064896 Phase 1
9 Pharmacogenomics in Pulmonary Arterial Hypertension Unknown status NCT00593905 Sitaxsentan;Bosentan, Ambrisentan
10 The Effect of a Retrofit Particle Trap on the Vascular Effects of Diesel Exhaust Inhalation Completed NCT00745446
11 Technical Development of Cardiovascular Magnetic Resonance Imaging Recruiting NCT00027170

Search NIH Clinical Center for Pulmonary Venoocclusive Disease 2

Genetic Tests for Pulmonary Venoocclusive Disease 2

Genetic tests related to Pulmonary Venoocclusive Disease 2:

id Genetic test Affiliating Genes
1 Familial Pulmonary Capillary Hemangiomatosis 29
2 Pulmonary Capillary Hemangiomatosis 29
3 Pulmonary Venoocclusive Disease 2 24 EIF2AK4

Anatomical Context for Pulmonary Venoocclusive Disease 2

MalaCards organs/tissues related to Pulmonary Venoocclusive Disease 2:

39
Lymph Node, Lung, Heart, Prostate

Publications for Pulmonary Venoocclusive Disease 2

Variations for Pulmonary Venoocclusive Disease 2

UniProtKB/Swiss-Prot genetic disease variations for Pulmonary Venoocclusive Disease 2:

71
id Symbol AA change Variation ID SNP ID
1 EIF2AK4 p.Arg585Gln VAR_070990 rs587777106
2 EIF2AK4 p.Leu643Arg VAR_070991 rs757852728

ClinVar genetic disease variations for Pulmonary Venoocclusive Disease 2:

6 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1 EIF2AK4 NM_001013703.3(EIF2AK4): c.1392delT (p.Arg465Valfs) deletion Pathogenic rs587777102 GRCh37 Chromosome 15, 40259919: 40259919
2 EIF2AK4 NM_001013703.3(EIF2AK4): c.3802C> T (p.Gln1268Ter) single nucleotide variant Pathogenic rs587777103 GRCh37 Chromosome 15, 40308745: 40308745
3 EIF2AK4 NM_001013703.3(EIF2AK4): c.567dupG (p.Lys190Glufs) duplication Pathogenic rs587777104 GRCh37 Chromosome 15, 40246158: 40246158
4 EIF2AK4 NM_001013703.3(EIF2AK4): c.3406C> T (p.Arg1136Ter) single nucleotide variant Pathogenic rs587777105 GRCh37 Chromosome 15, 40299265: 40299265
5 EIF2AK4 NM_001013703.3(EIF2AK4): c.1754G> A (p.Arg585Gln) single nucleotide variant Pathogenic rs587777106 GRCh37 Chromosome 15, 40265886: 40265886
6 EIF2AK4 NM_001013703.3(EIF2AK4): c.1387C> T (p.Arg463Ter) single nucleotide variant Pathogenic rs587777107 GRCh37 Chromosome 15, 40259914: 40259914
7 EIF2AK4 NM_001013703.3(EIF2AK4): c.1153dupG (p.Val385Glyfs) duplication Pathogenic rs886037660 GRCh38 Chromosome 15, 39967479: 39967479
8 EIF2AK4 NM_001013703.3(EIF2AK4): c.3766C> T (p.Arg1256Ter) single nucleotide variant Pathogenic rs587777207 GRCh38 Chromosome 15, 40016508: 40016508
9 EIF2AK4 NM_001013703.3(EIF2AK4): c.3448C> T (p.Arg1150Ter) single nucleotide variant Pathogenic rs587777208 GRCh38 Chromosome 15, 40008067: 40008067
10 EIF2AK4 NM_001013703.3(EIF2AK4): c.860-1G> A single nucleotide variant Pathogenic rs886037661 GRCh38 Chromosome 15, 39965685: 39965685
11 EIF2AK4 NM_001013703.3(EIF2AK4): c.560_564delAAGAA (p.Lys187Argfs) deletion Pathogenic rs886041403 GRCh37 Chromosome 15, 40246151: 40246155
12 EIF2AK4 NM_001013703.3(EIF2AK4): c.354_355delTG (p.C118Wfs*7) deletion Pathogenic rs1085307439 GRCh38 Chromosome 15, 39943479: 39943480
13 EIF2AK4 NM_001013703.3(EIF2AK4): c.745C> T (p.R249*) single nucleotide variant Pathogenic rs202140402 GRCh38 Chromosome 15, 39961785: 39961785
14 EIF2AK4 NM_001013703.3(EIF2AK4): c.1554-4C> A (p.C519Dfs*17) single nucleotide variant Pathogenic rs376877634 GRCh37 Chromosome 15, 40265105: 40265105
15 EIF2AK4 NM_001013703.3(EIF2AK4): c.1928T> G (p.L643R) single nucleotide variant Pathogenic rs757852728 GRCh38 Chromosome 15, 39976523: 39976523
16 EIF2AK4 NM_001013703.3(EIF2AK4): c.2136_2139dup (p.Ser714Hisfs) duplication Pathogenic rs1085307440 GRCh38 Chromosome 15, 39976731: 39976734
17 EIF2AK4 NM_001013703.3(EIF2AK4): c.2319+1G> A single nucleotide variant Pathogenic rs1085307441 GRCh38 Chromosome 15, 39978148: 39978148
18 EIF2AK4 NM_001013703.3(EIF2AK4): c.2458C> T (p.R820*) single nucleotide variant Pathogenic rs774163084 GRCh37 Chromosome 15, 40280238: 40280238
19 EIF2AK4 NM_001013703.3(EIF2AK4): c.2857C> T (p.Q953*) single nucleotide variant Pathogenic rs759101551 GRCh38 Chromosome 15, 39997054: 39997054
20 EIF2AK4 NM_001013703.3(EIF2AK4): c.3159G> A (p.K975_K1053del) single nucleotide variant Pathogenic rs1085307442 GRCh38 Chromosome 15, 40001224: 40001224
21 EIF2AK4 NM_001013703.3(EIF2AK4): c.3244C> T (p.Q1082*) single nucleotide variant Pathogenic rs1085307443 GRCh38 Chromosome 15, 40003201: 40003201
22 EIF2AK4 NM_001013703.3(EIF2AK4): c.3344C> T (p.P1115L) single nucleotide variant Pathogenic rs774906916 GRCh38 Chromosome 15, 40003301: 40003301
23 EIF2AK4 NM_001013703.3(EIF2AK4): c.3576+1G> T single nucleotide variant Pathogenic rs756902589 GRCh38 Chromosome 15, 40008196: 40008196
24 EIF2AK4 NM_001013703.3(EIF2AK4): c.4065+1G> C single nucleotide variant Pathogenic rs776140816 GRCh37 Chromosome 15, 40309444: 40309444
25 EIF2AK4 NM_001013703.3(EIF2AK4): c.4205dup (p.Ser1403Lysfs) duplication Pathogenic rs1085307444 GRCh38 Chromosome 15, 40020930: 40020930
26 EIF2AK4 NM_001013703.3(EIF2AK4): c.4728+1_4728+13delinsTTCT indel Pathogenic rs1085307445 GRCh38 Chromosome 15, 40032238: 40032250

Expression for Pulmonary Venoocclusive Disease 2

Search GEO for disease gene expression data for Pulmonary Venoocclusive Disease 2.

Pathways for Pulmonary Venoocclusive Disease 2

GO Terms for Pulmonary Venoocclusive Disease 2

Sources for Pulmonary Venoocclusive Disease 2

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7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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