MCID: PLM167
MIFTS: 25

Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Cardiovascular 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 75 73
Familial Pulmonary Capillary Hemangiomatosis 53 75 29 6
Pulmonary Capillary Hemangiomatosis 59 29 73
Hemangiomatosis, Familial Pulmonary Capillary 57 53
Pvod2 57 75
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:

OMIM 57 234810
Orphanet 59 ORPHA199241
MESH via Orphanet 45 C535861
ICD10 via Orphanet 34 D18.0
UMLS via Orphanet 74 C0340548
MedGen 42 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, and has symptoms including coughing and dyspnea. 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 : 75 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:

# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension 9.9

Symptoms & Phenotypes for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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, 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

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


coughing, dyspnea

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 Familial Pulmonary Capillary Hemangiomatosis 29 EIF2AK4
2 Pulmonary Capillary Hemangiomatosis 29

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 Year
1
Familial pulmonary capillary hemangiomatosis early in life. ( 22937432 )
2011
2
Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension. ( 3382104 )
1988

Variations for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

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

75
# 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, Autosomal Recessive:

6
(show top 50) (show all 52)
# 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.1392delT (p.Arg465Valfs) deletion Pathogenic rs587777102 GRCh38 Chromosome 15, 39967718: 39967718
3 EIF2AK4 NM_001013703.3(EIF2AK4): c.3802C> T (p.Gln1268Ter) single nucleotide variant Pathogenic rs587777103 GRCh37 Chromosome 15, 40308745: 40308745
4 EIF2AK4 NM_001013703.3(EIF2AK4): c.3802C> T (p.Gln1268Ter) single nucleotide variant Pathogenic rs587777103 GRCh38 Chromosome 15, 40016544: 40016544
5 EIF2AK4 NM_001013703.3(EIF2AK4): c.567dupG (p.Lys190Glufs) duplication Pathogenic rs587777104 GRCh37 Chromosome 15, 40246158: 40246158
6 EIF2AK4 NM_001013703.3(EIF2AK4): c.567dupG (p.Lys190Glufs) duplication Pathogenic rs587777104 GRCh38 Chromosome 15, 39953957: 39953957
7 EIF2AK4 NM_001013703.3(EIF2AK4): c.3406C> T (p.Arg1136Ter) single nucleotide variant Pathogenic rs587777105 GRCh37 Chromosome 15, 40299265: 40299265
8 EIF2AK4 NM_001013703.3(EIF2AK4): c.3406C> T (p.Arg1136Ter) single nucleotide variant Pathogenic rs587777105 GRCh38 Chromosome 15, 40007064: 40007064
9 EIF2AK4 NM_001013703.3(EIF2AK4): c.1754G> A (p.Arg585Gln) single nucleotide variant Pathogenic rs587777106 GRCh37 Chromosome 15, 40265886: 40265886
10 EIF2AK4 NM_001013703.3(EIF2AK4): c.1754G> A (p.Arg585Gln) single nucleotide variant Pathogenic rs587777106 GRCh38 Chromosome 15, 39973685: 39973685
11 EIF2AK4 NM_001013703.3(EIF2AK4): c.1387C> T (p.Arg463Ter) single nucleotide variant Pathogenic rs587777107 GRCh37 Chromosome 15, 40259914: 40259914
12 EIF2AK4 NM_001013703.3(EIF2AK4): c.1387C> T (p.Arg463Ter) single nucleotide variant Pathogenic rs587777107 GRCh38 Chromosome 15, 39967713: 39967713
13 EIF2AK4 NM_001013703.3(EIF2AK4): c.1153dupG (p.Val385Glyfs) duplication Pathogenic rs886037660 GRCh38 Chromosome 15, 39967479: 39967479
14 EIF2AK4 NM_001013703.3(EIF2AK4): c.1153dupG (p.Val385Glyfs) duplication Pathogenic rs886037660 GRCh37 Chromosome 15, 40259680: 40259680
15 EIF2AK4 NM_001013703.3(EIF2AK4): c.3766C> T (p.Arg1256Ter) single nucleotide variant Pathogenic rs587777207 GRCh38 Chromosome 15, 40016508: 40016508
16 EIF2AK4 NM_001013703.3(EIF2AK4): c.3766C> T (p.Arg1256Ter) single nucleotide variant Pathogenic rs587777207 GRCh37 Chromosome 15, 40308709: 40308709
17 EIF2AK4 NM_001013703.3(EIF2AK4): c.3448C> T (p.Arg1150Ter) single nucleotide variant Pathogenic rs587777208 GRCh38 Chromosome 15, 40008067: 40008067
18 EIF2AK4 NM_001013703.3(EIF2AK4): c.3448C> T (p.Arg1150Ter) single nucleotide variant Pathogenic rs587777208 GRCh37 Chromosome 15, 40300268: 40300268
19 EIF2AK4 NM_001013703.3(EIF2AK4): c.860-1G> A single nucleotide variant Pathogenic rs886037661 GRCh38 Chromosome 15, 39965685: 39965685
20 EIF2AK4 NM_001013703.3(EIF2AK4): c.860-1G> A single nucleotide variant Pathogenic rs886037661 GRCh37 Chromosome 15, 40257886: 40257886
21 EIF2AK4 NM_001013703.3(EIF2AK4): c.560_564delAAGAA (p.Lys187Argfs) deletion Pathogenic rs886041403 GRCh37 Chromosome 15, 40246151: 40246155
22 EIF2AK4 NM_001013703.3(EIF2AK4): c.560_564delAAGAA (p.Lys187Argfs) deletion Pathogenic rs886041403 GRCh38 Chromosome 15, 39953950: 39953954
23 EIF2AK4 NM_001013703.3(EIF2AK4): c.354_355delTG (p.C118Wfs*7) deletion Pathogenic rs1085307439 GRCh38 Chromosome 15, 39943479: 39943480
24 EIF2AK4 NM_001013703.3(EIF2AK4): c.354_355delTG (p.C118Wfs*7) deletion Pathogenic rs1085307439 GRCh37 Chromosome 15, 40235680: 40235681
25 EIF2AK4 NM_001013703.3(EIF2AK4): c.745C> T (p.R249*) single nucleotide variant Pathogenic rs202140402 GRCh37 Chromosome 15, 40253986: 40253986
26 EIF2AK4 NM_001013703.3(EIF2AK4): c.745C> T (p.R249*) single nucleotide variant Pathogenic rs202140402 GRCh38 Chromosome 15, 39961785: 39961785
27 EIF2AK4 NM_001013703.3(EIF2AK4): c.1554-4C> A (p.C519Dfs*17) single nucleotide variant Pathogenic rs376877634 GRCh38 Chromosome 15, 39972904: 39972904
28 EIF2AK4 NM_001013703.3(EIF2AK4): c.1554-4C> A (p.C519Dfs*17) single nucleotide variant Pathogenic rs376877634 GRCh37 Chromosome 15, 40265105: 40265105
29 EIF2AK4 NM_001013703.3(EIF2AK4): c.1928T> G (p.Leu643Arg) single nucleotide variant Pathogenic rs757852728 GRCh38 Chromosome 15, 39976523: 39976523
30 EIF2AK4 NM_001013703.3(EIF2AK4): c.1928T> G (p.Leu643Arg) single nucleotide variant Pathogenic rs757852728 GRCh37 Chromosome 15, 40268724: 40268724
31 EIF2AK4 NM_001013703.3(EIF2AK4): c.2136_2139dup (p.Ser714Hisfs) duplication Pathogenic rs1085307440 GRCh38 Chromosome 15, 39976731: 39976734
32 EIF2AK4 NM_001013703.3(EIF2AK4): c.2136_2139dup (p.Ser714Hisfs) duplication Pathogenic rs1085307440 GRCh37 Chromosome 15, 40268932: 40268935
33 EIF2AK4 NM_001013703.3(EIF2AK4): c.2319+1G> A single nucleotide variant Pathogenic rs1085307441 GRCh38 Chromosome 15, 39978148: 39978148
34 EIF2AK4 NM_001013703.3(EIF2AK4): c.2319+1G> A single nucleotide variant Pathogenic rs1085307441 GRCh37 Chromosome 15, 40270349: 40270349
35 EIF2AK4 NM_001013703.3(EIF2AK4): c.2458C> T (p.R820*) single nucleotide variant Pathogenic rs774163084 GRCh37 Chromosome 15, 40280238: 40280238
36 EIF2AK4 NM_001013703.3(EIF2AK4): c.2458C> T (p.R820*) single nucleotide variant Pathogenic rs774163084 GRCh38 Chromosome 15, 39988037: 39988037
37 EIF2AK4 NM_001013703.3(EIF2AK4): c.2857C> T (p.Q953*) single nucleotide variant Pathogenic rs759101551 GRCh38 Chromosome 15, 39997054: 39997054
38 EIF2AK4 NM_001013703.3(EIF2AK4): c.2857C> T (p.Q953*) single nucleotide variant Pathogenic rs759101551 GRCh37 Chromosome 15, 40289255: 40289255
39 EIF2AK4 NM_001013703.3(EIF2AK4): c.3159G> A (p.K975_K1053del) single nucleotide variant Pathogenic rs1085307442 GRCh37 Chromosome 15, 40293425: 40293425
40 EIF2AK4 NM_001013703.3(EIF2AK4): c.3159G> A (p.K975_K1053del) single nucleotide variant Pathogenic rs1085307442 GRCh38 Chromosome 15, 40001224: 40001224
41 EIF2AK4 NM_001013703.3(EIF2AK4): c.3244C> T (p.Q1082*) single nucleotide variant Pathogenic rs1085307443 GRCh38 Chromosome 15, 40003201: 40003201
42 EIF2AK4 NM_001013703.3(EIF2AK4): c.3244C> T (p.Q1082*) single nucleotide variant Pathogenic rs1085307443 GRCh37 Chromosome 15, 40295402: 40295402
43 EIF2AK4 NM_001013703.3(EIF2AK4): c.3344C> T (p.Pro1115Leu) single nucleotide variant Pathogenic rs774906916 GRCh37 Chromosome 15, 40295502: 40295502
44 EIF2AK4 NM_001013703.3(EIF2AK4): c.3344C> T (p.Pro1115Leu) single nucleotide variant Pathogenic rs774906916 GRCh38 Chromosome 15, 40003301: 40003301
45 EIF2AK4 NM_001013703.3(EIF2AK4): c.3576+1G> T single nucleotide variant Pathogenic rs756902589 GRCh37 Chromosome 15, 40300397: 40300397
46 EIF2AK4 NM_001013703.3(EIF2AK4): c.3576+1G> T single nucleotide variant Pathogenic rs756902589 GRCh38 Chromosome 15, 40008196: 40008196
47 EIF2AK4 NM_001013703.3(EIF2AK4): c.4065+1G> C single nucleotide variant Pathogenic rs776140816 GRCh37 Chromosome 15, 40309444: 40309444
48 EIF2AK4 NM_001013703.3(EIF2AK4): c.4065+1G> C single nucleotide variant Pathogenic rs776140816 GRCh38 Chromosome 15, 40017243: 40017243
49 EIF2AK4 NM_001013703.3(EIF2AK4): c.4205dup (p.Ser1403Lysfs) duplication Pathogenic rs1085307444 GRCh38 Chromosome 15, 40020930: 40020930
50 EIF2AK4 NM_001013703.3(EIF2AK4): c.4205dup (p.Ser1403Lysfs) duplication Pathogenic rs1085307444 GRCh37 Chromosome 15, 40313131: 40313131

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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