EIF2AK4 gene related symptoms and diseases
All the information presented here about the EIF2AK4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EIF2AK4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypertension | Common - Between 50% and 80% cases |
| Dyspnea | Common - Between 50% and 80% cases |
| Pulmonary arterial hypertension | Common - Between 50% and 80% cases |
| Pulmonary venous occlusion | Common - Between 50% and 80% cases |
| Fatigue | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with EIF2AK4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Dilatation
- Cough
- Hemangiomatosis
- Pulmonary capillary hemangiomatosis
- Arterial intimal fibrosis
- Edema
- Congestive heart failure
- Thromboembolism
And 3 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EIF2AK4 gene
Here you will find a list of rare diseases related to the EIF2AK4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PULMONARY CAPILLARY HEMANGIOMATOSIS
Alternate names
PULMONARY CAPILLARY HEMANGIOMATOSIS Is also known as hemangiomatosis, familial pulmonary capillary
Description
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 (OMIM ).
Most common symptoms of PULMONARY CAPILLARY HEMANGIOMATOSIS
- Hypertension
- Fatigue
- Dilatation
- Dyspnea
- Cough
More info about PULMONARY CAPILLARY HEMANGIOMATOSIS
PULMONARY VENOOCCLUSIVE DISEASE
Alternate names
PULMONARY VENOOCCLUSIVE DISEASE Is also known as pvod
Description
Pulmonary venoocclusive disease primarily affects the postcapillary venous pulmonary vessels and may involve significant pulmonary capillary dilation and/or proliferation. PVOD is an uncommon cause of pulmonary artery hypertension (PPH; see {178600}), a severe condition characterized by elevated pulmonary artery pressure leading to right heart failure and death. PVOD accounts for 5 to 10% of 'idiopathic' PPH and has an estimated incidence of 0.1 to 0.2 cases per million. The pathologic hallmark of PVOD is the extensive and diffuse occlusion of pulmonary veins by fibrous tissue, with intimal thickening present in venules and small veins in lobular septa and, rarely, larger veins. Definitive diagnosis of PVOD requires histologic analysis of a lung sample, although surgical lung biopsy is often too invasive for these frail patients. Patients with PVOD respond poorly to available therapy, therefore it is crucial to distinguish PVOD from other forms of PPH. Radiologic characteristics suggestive of PVOD on high-resolution CT of the chest include nodular ground-glass opacities, septal lines, and lymph node enlargement. In addition, because PVOD mainly affects postcapillary vasculature, it causes chronic elevation of pulmonary capillary pressure and thus promotes occult alveolar hemorrhage, which may be a characteristic feature of PVOD (summary by Montani et al., 2008).
Most common symptoms of PULMONARY VENOOCCLUSIVE DISEASE
- Hypertension
- Edema
- Congestive heart failure
- Dyspnea
- Pulmonary arterial hypertension
More info about PULMONARY VENOOCCLUSIVE DISEASE
HERITABLE PULMONARY ARTERIAL HYPERTENSION
Alternate names
HERITABLE PULMONARY ARTERIAL HYPERTENSION Is also known as hpah, hereditary pulmonary arterial hypertension, familial pulmonary arterial hypertension, fpah
Description
Heritable pulmonary arterial hypertension (HPAH) is a form of pulmonary arterial hypertension (PAH, see this term), occurring due to mutations in PAH predisposing genes or in a familial context. HPAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. HPAH is progressive and potentially fatal.
More info about HERITABLE PULMONARY ARTERIAL HYPERTENSION
SOURCES: ORPHANET
Search interest in EIF2AK4
Potential gene panels for EIF2AK4 gene
EIF2AK4-Associated Disorders (EIF2AK4) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the EIF2AK4 gene.
More info about this panel United States.
EIF2AK4. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the EIF2AK4 gene.
More info about this panel Spain.
Pulmonary Hypertension Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq + Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panel United States.
Pulmonary Hypertension Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Seq Analysis that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panel United States.
Pulmonary Hypertension Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Pulmonary Hypertension Del/Dup Panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5 KCNK3
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq Analysis that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel that also includes the following genes: RPGR BMPR1B BMPR2 SFTPB SLC7A7 SPAG1 TERC TERT NKX2-1 RSPH1
More info about this panel United States.
Pulmonary venoocclusive disease 2 (sequence analysis of EIF2AK4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EIF2AK4 gene.
More info about this panel Portugal.
Pulmonary venoocclusive disease 2 (sequence analysis of EIF2AK4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the EIF2AK4 gene.
More info about this panel Portugal.
Pulmonary hypertension NGS panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension NGS panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Vascular malformations Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations Deletion / Duplication panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Pulmonary hypertension Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension Deletion / Duplication panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Pulmonary hypertension Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Pulmonary hypertension Comprehensive panel that also includes the following genes: BMPR1B BMPR2 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 KCNK3 SMAD9
More info about this panel United States.
Vascular malformations NGS panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations NGS panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Vascular malformations Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Vascular malformations Comprehensive panel that also includes the following genes: BMPR2 TEK GLMN CAV1 KRIT1 ELMO2 ACVRL1 EIF2AK4 CCM2 ENG
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Pulmonary diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Pulmonary diseases - panels that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 CAV3 NME8 ACVRL1 SARS2 CCNO DNAI2
More info about this panel Germany.
Pulmonary venoocclusive disease type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the EIF2AK4 gene.
More info about this panel Germany.
Cardiovascular Diseases_General Panel Panel
Spain.
By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B
More info about this panel Spain.
Pulmonary hypertension Panel Panel
Spain.
By Health in Code Pulmonary hypertension Panel that also includes the following genes: BMPR1B BMPR2 CAV1 TOPBP1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5
More info about this panel Spain.
EIF2AK4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EIF2AK4 gene.
More info about this panel United States.
Congenital Structural Heart Disease Panel Panel
Finland.
By Blueprint Genetics Congenital Structural Heart Disease Panel that also includes the following genes: BMPR2 SOS2 TBX1 TBX20 TBX5 TFAP2B TLL1 ZIC3 ACTA2 ACTB
More info about this panel Finland.
Pulmonary Artery Hypertension (PAH) Panel Panel
Finland.
By Blueprint Genetics Pulmonary Artery Hypertension (PAH) Panel that also includes the following genes: BMPR2 TBX4 CAV1 NFU1 ACVRL1 EIF2AK4 ENG FOXF1 KCNA5 KCNK3
More info about this panel Finland.
Pulmonary venoocclusive disease 2 Panel
Spain.
By Bioarray
This panel specifically test the EIF2AK4 gene.
More info about this panel Spain.
PULMONARY HYPERTENSION, NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL PULMONARY HYPERTENSION, NGS PANEL that also includes the following genes: BMPR1B BMPR2 TBX4 CAV1 ACVRL1 EIF2AK4 ENG FOXF1 GDF2 KCNA5
More info about this panel Spain.
Pulmonary Venoocclusive Disease Type 2 , Sequencing EIF2AK4 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the EIF2AK4 gene.
More info about this panel Spain.
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