PVOD2
MCID: PLM167
MIFTS: 32

Pulmonary Venoocclusive Disease 2, Autosomal Recessive (PVOD2)

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

Aliases & Classifications for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

MalaCards integrated aliases for Pulmonary Venoocclusive Disease 2, Autosomal Recessive:

Name: Pulmonary Venoocclusive Disease 2, Autosomal Recessive 57 74 72
Familial Pulmonary Capillary Hemangiomatosis 53 74 29 6
Pulmonary Capillary Hemangiomatosis 59 29 72
Hemangiomatosis, Familial Pulmonary Capillary 57 53
Pvod2 57 74
Venoocclusive Disease, Pulmonary, Type 2 40
Pulmonary Venoocclusive Disease 2 57

Characteristics:

Orphanet epidemiological data:

59
pulmonary capillary hemangiomatosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: any age;

OMIM:

57
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, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

MESH via Orphanet 45 C535861
ICD10 via Orphanet 34 D18.0
UMLS via Orphanet 73 C0340548
Orphanet 59 ORPHA199241
MedGen 42 C0340848
UMLS 72 C0340548 C0340848

Summaries for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

OMIM : 57 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, Autosomal Recessive, also known as familial pulmonary capillary hemangiomatosis, is related to pulmonary hypertension, primary, 1 and pulmonary edema, and has symptoms including dyspnea and coughing. An important gene associated with Pulmonary Venoocclusive Disease 2, Autosomal Recessive is EIF2AK4 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4). Affiliated tissues include lymph node and lung, and related phenotypes are dyspnea and pulmonary arterial hypertension

UniProtKB/Swiss-Prot : 74 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, Autosomal Recessive

Diseases in the Pulmonary Venoocclusive Disease family:

Pulmonary Venoocclusive Disease 2, Autosomal Recessive Pulmonary Venoocclusive Disease 1, Autosomal Dominant

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 10.7
2 pulmonary edema 10.6
3 vascular disease 10.4
4 lung disease 10.4
5 interstitial lung disease 10.3
6 hypertrophic cardiomyopathy 10.3
7 pulmonary hypertension 10.2
8 atrial standstill 1 10.2
9 hydrops, lactic acidosis, and sideroblastic anemia 10.2
10 crest syndrome 10.2
11 congestive heart failure 10.2
12 heritable pulmonary arterial hypertension 10.2
13 pulmonary venoocclusive disease 1, autosomal dominant 10.1
14 patent ductus arteriosus 1 10.1
15 hepatic veno-occlusive disease 10.1
16 respiratory failure 10.1
17 pulmonary venoocclusive disease 10.1
18 total anomalous pulmonary venous return 1 10.0
19 colorectal cancer 10.0
20 diaphragmatic hernia, congenital 10.0
21 systemic lupus erythematosus 10.0
22 cryptorchidism, unilateral or bilateral 10.0
23 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
24 alveolar capillary dysplasia with misalignment of pulmonary veins 10.0
25 left ventricular noncompaction 10.0
26 disseminated intravascular coagulation 10.0
27 arteriovenous malformation 10.0
28 hemosiderosis 10.0
29 hereditary hemorrhagic telangiectasia 10.0
30 telangiectasis 10.0
31 ehlers-danlos syndrome 10.0
32 pneumothorax 10.0
33 idiopathic interstitial pneumonia 10.0
34 pulmonary fibrosis 10.0
35 systemic scleroderma 10.0
36 diffuse pulmonary fibrosis 10.0
37 connective tissue disease 10.0
38 vascular dementia 10.0
39 lupus erythematosus 10.0
40 hypermobile ehlers-danlos syndrome 10.0
41 alveolar capillary dysplasia 10.0
42 pulmonary arterial hypertension associated with portal hypertension 10.0
43 rare vascular disease 10.0

Graphical network of the top 20 diseases related to Pulmonary Venoocclusive Disease 2, Autosomal Recessive:



Diseases related to Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Symptoms & Phenotypes for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Human phenotypes related to Pulmonary Venoocclusive Disease 2, Autosomal Recessive:

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
dyspnea
cough
decreased carbon monoxide diffusion capacity

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

Clinical features from OMIM:

234810

UMLS symptoms related to Pulmonary Venoocclusive Disease 2, Autosomal Recessive:


dyspnea, coughing

Drugs & Therapeutics for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Genetic Tests for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Genetic tests related to Pulmonary Venoocclusive Disease 2, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Pulmonary Capillary Hemangiomatosis 29
2 Familial Pulmonary Capillary Hemangiomatosis 29 EIF2AK4

Anatomical Context for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

MalaCards organs/tissues related to Pulmonary Venoocclusive Disease 2, Autosomal Recessive:

41
Lymph Node, Lung

Publications for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Articles related to Pulmonary Venoocclusive Disease 2, Autosomal Recessive:

# Title Authors PMID Year
1
EIF2AK4 mutations in pulmonary capillary hemangiomatosis. 8 71
24135949 2014
2
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. 8 71
24292273 2014
3
Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension. 38 8
3382104 1988
4
Familial pulmonary capillary hemangiomatosis early in life. 38
22937432 2011

Variations for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

ClinVar genetic disease variations for Pulmonary Venoocclusive Disease 2, Autosomal Recessive:

6 (show all 26)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EIF2AK4 NM_001013703.4(EIF2AK4): c.1153dup (p.Val385fs) duplication Pathogenic rs775819448 15:40259680-40259680 15:39967479-39967479
2 EIF2AK4 NM_001013703.4(EIF2AK4): c.3766C> T (p.Arg1256Ter) single nucleotide variant Pathogenic rs587777207 15:40308709-40308709 15:40016508-40016508
3 EIF2AK4 NM_001013703.4(EIF2AK4): c.3448C> T (p.Arg1150Ter) single nucleotide variant Pathogenic rs587777208 15:40300268-40300268 15:40008067-40008067
4 EIF2AK4 NM_001013703.4(EIF2AK4): c.860-1G> A single nucleotide variant Pathogenic rs886037661 15:40257886-40257886 15:39965685-39965685
5 EIF2AK4 NM_001013703.4(EIF2AK4): c.560_564del (p.Lys187fs) deletion Pathogenic rs772487425 15:40246151-40246155 15:39953950-39953954
6 EIF2AK4 NM_001013703.4(EIF2AK4): c.1387C> T (p.Arg463Ter) single nucleotide variant Pathogenic rs587777107 15:40259914-40259914 15:39967713-39967713
7 EIF2AK4 NM_001013703.4(EIF2AK4): c.1754G> A (p.Arg585Gln) single nucleotide variant Pathogenic rs587777106 15:40265886-40265886 15:39973685-39973685
8 EIF2AK4 NM_001013703.4(EIF2AK4): c.3406C> T (p.Arg1136Ter) single nucleotide variant Pathogenic rs587777105 15:40299265-40299265 15:40007064-40007064
9 EIF2AK4 NM_001013703.4(EIF2AK4): c.567dup (p.Lys190fs) duplication Pathogenic rs587777104 15:40246158-40246158 15:39953957-39953957
10 EIF2AK4 NM_001013703.4(EIF2AK4): c.3802C> T (p.Gln1268Ter) single nucleotide variant Pathogenic rs587777103 15:40308745-40308745 15:40016544-40016544
11 EIF2AK4 NM_001013703.4(EIF2AK4): c.1392del (p.Arg465fs) deletion Pathogenic rs587777102 15:40259919-40259919 15:39967718-39967718
12 EIF2AK4 NM_001013703.4(EIF2AK4): c.4728+1_4728+13delinsTTCT indel Pathogenic rs1085307445 15:40324439-40324451 15:40032238-40032250
13 EIF2AK4 NM_001013703.4(EIF2AK4): c.4205dup (p.Ser1403fs) duplication Pathogenic rs1085307444 15:40313131-40313131 15:40020930-40020930
14 EIF2AK4 NM_001013703.4(EIF2AK4): c.4065+1G> C single nucleotide variant Pathogenic rs776140816 15:40309444-40309444 15:40017243-40017243
15 EIF2AK4 NM_001013703.4(EIF2AK4): c.3576+1G> T single nucleotide variant Pathogenic rs756902589 15:40300397-40300397 15:40008196-40008196
16 EIF2AK4 NM_001013703.4(EIF2AK4): c.3344C> T (p.Pro1115Leu) single nucleotide variant Pathogenic rs774906916 15:40295502-40295502 15:40003301-40003301
17 EIF2AK4 NM_001013703.4(EIF2AK4): c.3244C> T (p.Gln1082Ter) single nucleotide variant Pathogenic rs1085307443 15:40295402-40295402 15:40003201-40003201
18 EIF2AK4 NM_001013703.4(EIF2AK4): c.3159G> A (p.Lys1053=) single nucleotide variant Pathogenic rs1085307442 15:40293425-40293425 15:40001224-40001224
19 EIF2AK4 NM_001013703.4(EIF2AK4): c.2857C> T (p.Gln953Ter) single nucleotide variant Pathogenic rs759101551 15:40289255-40289255 15:39997054-39997054
20 EIF2AK4 NM_001013703.4(EIF2AK4): c.2458C> T (p.Arg820Ter) single nucleotide variant Pathogenic rs774163084 15:40280238-40280238 15:39988037-39988037
21 EIF2AK4 NM_001013703.4(EIF2AK4): c.2319+1G> A single nucleotide variant Pathogenic rs1085307441 15:40270349-40270349 15:39978148-39978148
22 EIF2AK4 NM_001013703.4(EIF2AK4): c.2136_2139dup (p.Ser714fs) duplication Pathogenic rs751247185 15:40268932-40268935 15:39976731-39976734
23 EIF2AK4 NM_001013703.4(EIF2AK4): c.1928T> G (p.Leu643Arg) single nucleotide variant Pathogenic rs757852728 15:40268724-40268724 15:39976523-39976523
24 EIF2AK4 NM_001013703.4(EIF2AK4): c.1554-4C> A single nucleotide variant Pathogenic rs376877634 15:40265105-40265105 15:39972904-39972904
25 EIF2AK4 NM_001013703.4(EIF2AK4): c.745C> T (p.Arg249Ter) single nucleotide variant Pathogenic rs202140402 15:40253986-40253986 15:39961785-39961785
26 EIF2AK4 NM_001013703.4(EIF2AK4): c.352_353TG[1] (p.Cys118fs) short repeat Pathogenic rs1085307439 15:40235680-40235681 15:39943479-39943480

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

74
# Symbol AA change Variation ID SNP ID
1 EIF2AK4 p.Arg585Gln VAR_070990 rs587777106
2 EIF2AK4 p.Leu643Arg VAR_070991 rs757852728

Expression for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

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

Pathways for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

GO Terms for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Sources for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

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73 UMLS via Orphanet
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