PVOD2
MCID: PLM167
MIFTS: 38

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 72 29 6 70
Pulmonary Capillary Hemangiomatosis 58 29 70
Hemangiomatosis, Familial Pulmonary Capillary 57 20
Familial Pulmonary Capillary Hemangiomatosis 20 72
Pvod2 57 72
Venoocclusive Disease, Pulmonary, Type 2 39
Pulmonary Venoocclusive Disease 2 57

Characteristics:

Orphanet epidemiological data:

58
pulmonary capillary hemangiomatosis
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
pulmonary venoocclusive disease 2, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset middle age onset young adult onset


Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

OMIM® 57 234810
OMIM Phenotypic Series 57 PS265450
MESH via Orphanet 45 C535861
ICD10 via Orphanet 33 D18.0
UMLS via Orphanet 71 C0340548
Orphanet 58 ORPHA199241
MedGen 41 C0340848
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Pulmonary Venoocclusive Disease 2, Autosomal Recessive, also known as pulmonary capillary hemangiomatosis, is related to pulmonary hypertension, primary, 1 and pulmonary venoocclusive disease 1, autosomal dominant, 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, lung and heart, and related phenotypes are dyspnea and mediastinal lymphadenopathy

UniProtKB/Swiss-Prot : 72 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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 pulmonary hypertension, primary, 1 10.7
2 pulmonary venoocclusive disease 1, autosomal dominant 10.7
3 pulmonary edema 10.6
4 vascular disease 10.5
5 interstitial lung disease 10.3
6 lung disease 10.3
7 hypertrophic cardiomyopathy 10.3
8 pulmonary hypertension 10.3
9 atrial standstill 1 10.2
10 crest syndrome 10.2
11 telangiectasis 10.2
12 pulmonary fibrosis 10.2
13 congestive heart failure 10.2
14 connective tissue disease 10.2
15 heritable pulmonary arterial hypertension 10.2
16 idiopathic/heritable pulmonary arterial hypertension 10.2
17 patent ductus arteriosus 1 10.1
18 hepatic veno-occlusive disease 10.1
19 respiratory failure 10.1
20 pulmonary venoocclusive disease 10.1
21 total anomalous pulmonary venous return 1 10.0
22 diaphragmatic hernia, congenital 10.0
23 systemic lupus erythematosus 10.0
24 rheumatoid arthritis 10.0
25 cryptorchidism, unilateral or bilateral 10.0
26 alveolar capillary dysplasia with misalignment of pulmonary veins 10.0
27 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.0
28 left ventricular noncompaction 10.0
29 disseminated intravascular coagulation 10.0
30 arteriovenous malformation 10.0
31 hemosiderosis 10.0
32 hereditary hemorrhagic telangiectasia 10.0
33 ehlers-danlos syndrome 10.0
34 alcohol use disorder 10.0
35 pneumothorax 10.0
36 calcinosis 10.0
37 acute myocarditis 10.0
38 systemic scleroderma 10.0
39 pneumonia 10.0
40 diffuse pulmonary fibrosis 10.0
41 myocarditis 10.0
42 arthritis 10.0
43 vascular dementia 10.0
44 lupus erythematosus 10.0
45 hepatopulmonary syndrome 10.0
46 hypermobile ehlers-danlos syndrome 10.0
47 chronic thromboembolic pulmonary hypertension 10.0
48 raynaud phenomenon 10.0
49 pulmonary arterial hypertension associated with portal hypertension 10.0
50 virus-associated trichodysplasia spinulosa 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:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dyspnea 58 31 very rare (1%) Frequent (79-30%) HP:0002094
2 mediastinal lymphadenopathy 58 31 very rare (1%) Frequent (79-30%) HP:0100721
3 decreased dlco 58 31 very rare (1%) Very frequent (99-80%) HP:0045051
4 centrilobular ground-glass opacification on pulmonary hrct 58 31 very rare (1%) Frequent (79-30%) HP:0025180
5 chronic fatigue 31 very rare (1%) HP:0012432
6 pulmonary capillary hemangiomatosis 58 31 Very frequent (99-80%) HP:0005954
7 hemoptysis 58 Frequent (79-30%)
8 cough 31 HP:0012735
9 pulmonary arterial hypertension 31 HP:0002092
10 hypoxemia 58 Frequent (79-30%)
11 cyanosis 58 Frequent (79-30%)
12 pleural effusion 58 Occasional (29-5%)
13 lymphadenopathy 58 Very frequent (99-80%)
14 pedal edema 58 Frequent (79-30%)
15 exertional dyspnea 58 Frequent (79-30%)
16 pericardial effusion 58 Very rare (<4-1%)
17 abnormal pulmonary vein morphology 58 Frequent (79-30%)
18 antinuclear antibody positivity 58 Excluded (0%)
19 pulmonary edema 58 Occasional (29-5%)
20 elevated pulmonary artery pressure 58 Frequent (79-30%)
21 hemothorax 58 Frequent (79-30%)
22 right ventricular failure 58 Frequent (79-30%)
23 clubbing of fingers 58 Frequent (79-30%)
24 ground-glass opacification on pulmonary hrct 58 Very frequent (99-80%)
25 capillary malformation 58 Very frequent (99-80%)
26 diffuse alveolar hemorrhage 58 Frequent (79-30%)
27 interlobular septal thickening on pulmonary hrct 58 Very frequent (99-80%)
28 pulmonary venous occlusion 31 HP:0006518
29 cytoplasmic antineutrophil antibody positivity 58 Excluded (0%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 Pulmonary Venoocclusive Disease 2, Autosomal Recessive 29 EIF2AK4

Anatomical Context for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

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

40
Lymph Node, Lung, Heart, Colon, Endothelial

Publications for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

Articles related to Pulmonary Venoocclusive Disease 2, Autosomal Recessive:

(show top 50) (show all 133)
# Title Authors PMID Year
1
EIF2AK4 mutations in pulmonary capillary hemangiomatosis. 61 57 6
24135949 2014
2
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. 6 57
24292273 2014
3
A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies. 6 61
25512148 2015
4
Familial pulmonary capillary hemangiomatosis resulting in primary pulmonary hypertension. 61 57
3382104 1988
5
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
6
United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics. 61
32858008 2021
7
Rapidly Progressive Respiratory Failure in Patient With Late Onset Pulmonary Capillary Hemangiomatosis. 61
33369913 2021
8
Autopsy study of pulmonary capillary hemangiomatosis with inflammatory cell infiltration into the myocardium. 61
33282187 2020
9
Pulmonary capillary hemangiomatosis in Chinese patients without EIF2AK4 mutations. 61
32825965 2020
10
Pulmonary vasodilators can lead to various complications in pulmonary "arterial" hypertension associated with congenital heart disease. 61
32285188 2020
11
A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. 61
32547734 2020
12
Vasohibin-1 and miR-720 expression in diffuse pulmonary capillary hemangiomatosis-like changes associated with pulmonary hypoplasia. 61
32314456 2020
13
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
31501875 2020
14
Case 276: Pulmonary Veno-Occlusive Disease and Pulmonary Capillary Hemangiomatosis Disease. 61
32176598 2020
15
Pulmonary capillary hemangiomatosis or hepatopulmonary syndrome in a patient with calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia syndrome? 61
31868804 2020
16
Pulmonary Capillary Hemangiomatosis (PCH); A Rare Cause of PAH Presenting as Supraventricular Tachycardia. 61
31979605 2020
17
Novel Lung Biopsy Surgical Technique for Definitive Diagnosis of Pulmonary Capillary Hemangiomatosis. 61
31518589 2020
18
Pulmonary capillary hemangiomatosis-predominant vasculopathy in a patient with rheumatoid arthritis-associated interstitial lung disease: An autopsy report. 61
33024689 2020
19
Novel EIF2AK4 mutations in histologically proven pulmonary capillary hemangiomatosis and hereditary pulmonary arterial hypertension. 61
31711431 2019
20
An Autopsy Case of Pulmonary Capillary Hemangiomatosis with an Electron Microscopy Study. 61
31636247 2019
21
Features of radiological and physiological findings in pulmonary capillary hemangiomatosis: an updated pooled analysis of confirmed diagnostic cases. 61
31908771 2019
22
Left ventricular noncompaction with pulmonary capillary hemangiomatosis-like lesions: case report. 61
31255974 2019
23
A case of early diagnosis of pulmonary capillary hemangiomatosis in a worker with exposure to silica. 61
31337372 2019
24
Pulmonary capillary hemangiomatosis: a lesson learned. 61
31528628 2019
25
United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications. 61
31099303 2019
26
Comprehensive three-dimensional morphology of neoangiogenesis in pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
30697960 2019
27
Pulmonary capillary hemangiomatosis: An unusual cause of primary pulmonary hypertension in a child with characteristic computed tomography imaging features. 61
30829252 2019
28
Use of vasodilators for the treatment of pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis: A systematic review. 61
30473253 2019
29
Pulmonary capillary hemangiomatosis diagnosed by pathology of explanted lungs: a unique etiology serves as a key of clinical diagnosis. 61
29804176 2019
30
Clinical features of canine pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
30499214 2019
31
Pulmonary veno-occlusive disease as a cause of severe pulmonary hypertension in a dog. 61
30518401 2018
32
Clinical prediction score for identifying patients with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. 61
29548663 2018
33
Clinical and pathological characteristics of spontaneous pneumothorax in women: a 25-year single-institutional experience. 61
29846876 2018
34
Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients. 61
29743074 2018
35
[Pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis: A case report and literature review]. 61
29886475 2018
36
Pulmonary Capillary Hemangiomatosis without Pulmonary Hypertension: An Early Stage of Disease? 61
29336377 2018
37
Pulmonary Capillary Hemangiomatosis Associated with CREST Syndrome: A Challenge of Diagnosis and Treatment. 61
29067967 2017
38
Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report. 61
29381997 2017
39
Pulmonary capillary hemangiomatosis and hypertrophic cardiomyopathy in a Persian cat. 61
28754081 2017
40
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. 61
28972005 2017
41
Efficacy and safety of long-term imatinib therapy for patients with pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
28947033 2017
42
Genetics of pulmonary hypertension in the clinic. 61
28661905 2017
43
EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension. 61
27884767 2017
44
Vasoproliferative process resembling pulmonary capillary hemangiomatosis in a cat. 61
28320395 2017
45
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis. 61
28118962 2017
46
[Congenital pulmonary capillary hemangiomatosis in a newborn]. 61
28097848 2017
47
Pulmonary veno-occlusive disease: Two children with gradual disease progression. 61
28070482 2017
48
Small Sample Lung Biopsy Findings in Patients With Clinicoradiologic Suspicion of Pulmonary Venoocclusive Disease-Pulmonary Capillary Hemangiomatosis. 61
27623416 2016
49
Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease. 61
27514598 2016
50
Pulmonary Veno-Occlusive Disease: A Newly Recognized Cause of Severe Pulmonary Hypertension in Dogs. 61
26926086 2016

Variations for Pulmonary Venoocclusive Disease 2, Autosomal Recessive

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

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EIF2AK4 NM_001013703.4(EIF2AK4):c.3802C>T (p.Gln1268Ter) SNV Pathogenic 97065 rs587777103 GRCh37: 15:40308745-40308745
GRCh38: 15:40016544-40016544
2 EIF2AK4 NM_001013703.4(EIF2AK4):c.567dup (p.Lys190fs) Duplication Pathogenic 97066 rs587777104 GRCh37: 15:40246157-40246158
GRCh38: 15:39953956-39953957
3 EIF2AK4 NM_001013703.4(EIF2AK4):c.3406C>T (p.Arg1136Ter) SNV Pathogenic 97067 rs587777105 GRCh37: 15:40299265-40299265
GRCh38: 15:40007064-40007064
4 EIF2AK4 NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln) SNV Pathogenic 97068 rs587777106 GRCh37: 15:40265886-40265886
GRCh38: 15:39973685-39973685
5 EIF2AK4 NM_001013703.4(EIF2AK4):c.1387C>T (p.Arg463Ter) SNV Pathogenic 97069 rs587777107 GRCh37: 15:40259914-40259914
GRCh38: 15:39967713-39967713
6 EIF2AK4 NM_001013703.4(EIF2AK4):c.1153dup (p.Val385fs) Duplication Pathogenic 101527 rs775819448 GRCh37: 15:40259676-40259677
GRCh38: 15:39967475-39967476
7 EIF2AK4 NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter) SNV Pathogenic 101528 rs587777207 GRCh37: 15:40308709-40308709
GRCh38: 15:40016508-40016508
8 EIF2AK4 NM_001013703.4(EIF2AK4):c.3448C>T (p.Arg1150Ter) SNV Pathogenic 101529 rs587777208 GRCh37: 15:40300268-40300268
GRCh38: 15:40008067-40008067
9 EIF2AK4 NM_001013703.4(EIF2AK4):c.860-1G>A SNV Pathogenic 101530 rs886037661 GRCh37: 15:40257886-40257886
GRCh38: 15:39965685-39965685
10 EIF2AK4 NM_001013703.4(EIF2AK4):c.3244C>T (p.Gln1082Ter) SNV Pathogenic 426059 rs1085307443 GRCh37: 15:40295402-40295402
GRCh38: 15:40003201-40003201
11 EIF2AK4 NM_001013703.4(EIF2AK4):c.2458C>T (p.Arg820Ter) SNV Pathogenic 426056 rs774163084 GRCh37: 15:40280238-40280238
GRCh38: 15:39988037-39988037
12 EIF2AK4 NM_001013703.4(EIF2AK4):c.3576+1G>T SNV Pathogenic 426061 rs756902589 GRCh37: 15:40300397-40300397
GRCh38: 15:40008196-40008196
13 EIF2AK4 NM_001013703.4(EIF2AK4):c.4728+1_4728+13delinsTTCT Indel Pathogenic 426064 rs1085307445 GRCh37: 15:40324439-40324451
GRCh38: 15:40032238-40032250
14 EIF2AK4 NM_001013703.4(EIF2AK4):c.2857C>T (p.Gln953Ter) SNV Pathogenic 426057 rs759101551 GRCh37: 15:40289255-40289255
GRCh38: 15:39997054-39997054
15 EIF2AK4 NM_001013703.4(EIF2AK4):c.2136_2139dup (p.Ser714fs) Duplication Pathogenic 426054 rs751247185 GRCh37: 15:40268931-40268932
GRCh38: 15:39976730-39976731
16 EIF2AK4 NM_001013703.4(EIF2AK4):c.4065+1G>C SNV Pathogenic 426062 rs776140816 GRCh37: 15:40309444-40309444
GRCh38: 15:40017243-40017243
17 EIF2AK4 NM_001013703.4(EIF2AK4):c.3344C>T (p.Pro1115Leu) SNV Pathogenic 426060 rs774906916 GRCh37: 15:40295502-40295502
GRCh38: 15:40003301-40003301
18 EIF2AK4 NM_001013703.4(EIF2AK4):c.1554-4C>A SNV Pathogenic 426052 rs376877634 GRCh37: 15:40265105-40265105
GRCh38: 15:39972904-39972904
19 EIF2AK4 NM_001013703.4(EIF2AK4):c.745C>T (p.Arg249Ter) SNV Pathogenic 426051 rs202140402 GRCh37: 15:40253986-40253986
GRCh38: 15:39961785-39961785
20 EIF2AK4 NM_001013703.4(EIF2AK4):c.2319+1G>A SNV Pathogenic 426055 rs1085307441 GRCh37: 15:40270349-40270349
GRCh38: 15:39978148-39978148
21 EIF2AK4 NM_001013703.4(EIF2AK4):c.3159G>A (p.Lys1053=) SNV Pathogenic 426058 rs1085307442 GRCh37: 15:40293425-40293425
GRCh38: 15:40001224-40001224
22 EIF2AK4 NM_001013703.4(EIF2AK4):c.4205dup (p.Ser1403fs) Duplication Pathogenic 426063 rs1085307444 GRCh37: 15:40313130-40313131
GRCh38: 15:40020929-40020930
23 EIF2AK4 NM_001013703.4(EIF2AK4):c.352_353TG[1] (p.Cys118fs) Microsatellite Pathogenic 426050 rs1085307439 GRCh37: 15:40235678-40235679
GRCh38: 15:39943477-39943478
24 EIF2AK4 NM_001013703.4(EIF2AK4):c.1928T>G (p.Leu643Arg) SNV Pathogenic 426053 rs757852728 GRCh37: 15:40268724-40268724
GRCh38: 15:39976523-39976523
25 EIF2AK4 NM_001013703.4(EIF2AK4):c.145-2A>G SNV Pathogenic 812856 rs1595539403 GRCh37: 15:40231704-40231704
GRCh38: 15:39939503-39939503
26 EIF2AK4 NM_001013703.4(EIF2AK4):c.281dup (p.Asn94fs) Duplication Pathogenic 812858 rs1595541066 GRCh37: 15:40235601-40235602
GRCh38: 15:39943400-39943401
27 EIF2AK4 NM_001013703.4(EIF2AK4):c.3097C>T (p.Gln1033Ter) SNV Pathogenic 812866 rs760842663 GRCh37: 15:40293363-40293363
GRCh38: 15:40001162-40001162
28 EIF2AK4 NM_001013703.4(EIF2AK4):c.4414_4417CAGA[1] (p.Thr1473fs) Microsatellite Pathogenic 812872 rs745339673 GRCh37: 15:40318202-40318205
GRCh38: 15:40026001-40026004
29 EIF2AK4 NM_001013703.4(EIF2AK4):c.560_564del (p.Lys187fs) Deletion Pathogenic 280131 rs772487425 GRCh37: 15:40246149-40246153
GRCh38: 15:39953948-39953952
30 EIF2AK4 NM_001013703.4(EIF2AK4):c.3358-2del Deletion Pathogenic 1028446 GRCh37: 15:40299215-40299215
GRCh38: 15:40007014-40007014
31 EIF2AK4 NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs) Deletion Pathogenic/Likely pathogenic 97064 rs587777102 GRCh37: 15:40259918-40259918
GRCh38: 15:39967717-39967717
32 EIF2AK4 NM_001013703.4(EIF2AK4):c.3325G>A (p.Gly1109Arg) SNV Likely pathogenic 812867 rs771359303 GRCh37: 15:40295483-40295483
GRCh38: 15:40003282-40003282
33 EIF2AK4 NM_001013703.4(EIF2AK4):c.3605A>T (p.His1202Leu) SNV Likely pathogenic 812868 rs1159906680 GRCh37: 15:40301843-40301843
GRCh38: 15:40009642-40009642
34 EIF2AK4 NM_001013703.4(EIF2AK4):c.3884T>G (p.Leu1295Arg) SNV Likely pathogenic 812869 rs1595431276 GRCh37: 15:40308827-40308827
GRCh38: 15:40016626-40016626
35 EIF2AK4 NM_001013703.4(EIF2AK4):c.4392dup (p.Lys1465Ter) Duplication Likely pathogenic 812870 rs1181863323 GRCh37: 15:40318178-40318179
GRCh38: 15:40025977-40025978
36 EIF2AK4 NM_001013703.4(EIF2AK4):c.4400dup (p.Glu1468fs) Duplication Likely pathogenic 812871 rs1595437286 GRCh37: 15:40318185-40318186
GRCh38: 15:40025984-40025985
37 EIF2AK4 NM_001013703.4(EIF2AK4):c.82C>T (p.Gln28Ter) SNV Likely pathogenic 995682 GRCh37: 15:40226478-40226478
GRCh38: 15:39934277-39934277
38 EIF2AK4 NM_001013703.4(EIF2AK4):c.1155_1156CT[2] (p.Leu387fs) Microsatellite Likely pathogenic 812859 rs1595552181 GRCh37: 15:40259681-40259682
GRCh38: 15:39967480-39967481
39 EIF2AK4 NM_001013703.4(EIF2AK4):c.1739dup (p.Arg581fs) Duplication Likely pathogenic 812860 rs1595402535 GRCh37: 15:40265870-40265871
GRCh38: 15:39973669-39973670
40 EIF2AK4 NM_001013703.4(EIF2AK4):c.1795G>C (p.Gly599Arg) SNV Likely pathogenic 812861 rs1291600097 GRCh37: 15:40265927-40265927
GRCh38: 15:39973726-39973726
41 EIF2AK4 NM_001013703.4(EIF2AK4):c.1820T>G (p.Val607Gly) SNV Likely pathogenic 812862 rs1595403854 GRCh37: 15:40268616-40268616
GRCh38: 15:39976415-39976415
42 EIF2AK4 NM_001013703.4(EIF2AK4):c.2727C>G (p.Ser909Arg) SNV Likely pathogenic 812863 rs1595414835 GRCh37: 15:40285010-40285010
GRCh38: 15:39992809-39992809
43 EIF2AK4 NM_001013703.4(EIF2AK4):c.2841del (p.Ile948fs) Deletion Likely pathogenic 812864 rs1595418005 GRCh37: 15:40289238-40289238
GRCh38: 15:39997037-39997037
44 EIF2AK4 NM_001013703.4(EIF2AK4):c.3055_3064del (p.Leu1019fs) Deletion Likely pathogenic 812865 rs767131900 GRCh37: 15:40293318-40293327
GRCh38: 15:40001117-40001126
45 EIF2AK4 NM_001013703.4(EIF2AK4):c.257+4A>C SNV Likely pathogenic 812857 rs371276330 GRCh37: 15:40231822-40231822
GRCh38: 15:39939621-39939621
46 EIF2AK4 NM_001013703.4(EIF2AK4):c.4851A>G (p.Lys1617=) SNV Uncertain significance 811299 rs144332775 GRCh37: 15:40326604-40326604
GRCh38: 15:40034403-40034403
47 EIF2AK4 NM_001013703.4(EIF2AK4):c.1694T>C (p.Ile565Thr) SNV Uncertain significance 993619 GRCh37: 15:40265826-40265826
GRCh38: 15:39973625-39973625
48 EIF2AK4 NM_001013703.4(EIF2AK4):c.1078C>T (p.Arg360Cys) SNV Uncertain significance 994197 GRCh37: 15:40259605-40259605
GRCh38: 15:39967404-39967404
49 EIF2AK4 NM_001013703.4(EIF2AK4):c.4901_4902del (p.Val1634fs) Microsatellite Uncertain significance 994404 GRCh37: 15:40327234-40327235
GRCh38: 15:40035033-40035034
50 EIF2AK4 NM_001013703.4(EIF2AK4):c.744-11T>G SNV Likely benign 995681 GRCh37: 15:40253974-40253974
GRCh38: 15:39961773-39961773

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

72
# 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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