BMPR2 gene related symptoms and diseases

All the information presented here about the BMPR2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to BMPR2 gene

Symptoms // Phenotype	% Cases
Hypertension	Uncommon - Between 30% and 50% cases
Edema	Uncommon - Between 30% and 50% cases
Congestive heart failure	Uncommon - Between 30% and 50% cases
Dyspnea	Uncommon - Between 30% and 50% cases
Pulmonary arterial hypertension	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with BMPR2 gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
Pain
Hemangiomatosis
Right ventricular hypertrophy
Edema of the lower limbs
Abnormal thrombosis
Right ventricular failure
Abnormal tricuspid valve morphology
Spontaneous, recurrent epistaxis

And 35 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to BMPR2 gene

Here you will find a list of rare diseases related to the BMPR2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

DRUG- OR TOXIN-INDUCED PULMONARY ARTERIAL HYPERTENSION

Alternate names

DRUG- OR TOXIN-INDUCED PULMONARY ARTERIAL HYPERTENSION Is also known as drug- or toxin-induced pah

Description

Drug- or toxin-induced pulmonary arterial hypertension (PAH) is a form of pulmonary arterial hypertension (PAH, see this term) secondary to the exposition to drugs. Drug- or toxin-induced PAH is characterized by elevated pulmonary arterial resistance leading to right heart failure. Drug or toxin induced PAH is progressive and potentially fatal.

More info about DRUG- OR TOXIN-INDUCED PULMONARY ARTERIAL HYPERTENSION

SOURCES: ORPHANET

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

Alternate names

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 Is also known as pulmonary arterial hypertension, pht, pah

Description

Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary HypertensionPPH2 (OMIM ) is caused by mutation in the SMAD9 gene (OMIM ) on chromosome 13q13; PPH3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ) on chromosome 7q31; and PPH4 (OMIM ) is caused by mutation in the KCNK3 gene (OMIM ) on chromosome 2p23.See {265400} for a possible autosomal recessive form of PPH.Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1 ), caused by mutation in the ENG gene (OMIM ), and HHT2 (OMIM ), caused by mutation in the ACVRL1 (ALK1) gene (OMIM ).

Most common symptoms of PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

Pain
Hypertension
Hepatomegaly
Fatigue
Respiratory distress

More info about PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Pulmonary Venoocclusive DiseaseSee also PVOD2 (OMIM ), caused by mutation in the EIF2AK4 gene (OMIM ) on chromosome 15q15.

Most common symptoms of PULMONARY VENOOCCLUSIVE DISEASE

Hypertension
Edema
Congestive heart failure
Dyspnea
Pulmonary arterial hypertension

More info about PULMONARY VENOOCCLUSIVE DISEASE

SOURCES: OMIM ORPHANET

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 BMPR2

Potential gene panels for BMPR2 gene

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

BMPR2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to BMPR2 gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to BMPR2 gene

DRUG- OR TOXIN-INDUCED PULMONARY ARTERIAL HYPERTENSION

Alternate names

Description

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

Alternate names

Description

Most common symptoms of PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

PULMONARY VENOOCCLUSIVE DISEASE

Alternate names

Description

Most common symptoms of PULMONARY VENOOCCLUSIVE DISEASE

HERITABLE PULMONARY ARTERIAL HYPERTENSION

Alternate names

Description

Search interest in BMPR2

Potential gene panels for BMPR2 gene

Comprehensive Pulmonary Panel Panel

Arterial Hypertension Panel Panel

Pulmonary Arterial Hypertension Panel Panel

PulmoGene Panel (64 Genes) Panel

Pulmonary Hypertension Panel (5 Genes) Panel

Pulmonary Arterial Hypertension (PAH) Panel, Sequencing and Deletion/Duplication Panel

Pulmonary Arterial Hypertension (BMPR2) Sequencing Panel

Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication Panel

Pulmonary Arterial Hypertension (BMPR2) Deletion/Duplication Panel

Vascular Malformations Panel, Sequencing and Deletion/Duplication Panel

Vascular Malformations NGS Multi-Gene Panel (21 Genes) Panel

BMPR2. Complete sequencing Panel

BMPR2. MLPA testing Panel

BMPR2. Complete sequencing Panel

ACVRL1, ENG, BMPR2. MLPA testing Panel

Pulmonary Hypertension Seq + Del/Dup Panel Panel

Pulmonary Hypertension Seq Analysis Panel

Pulmonary Hypertension Del/Dup Panel Panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel

Comprehensive Pulmonary-Vascular Del/Dup Panel Panel

Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel Panel

Primary pulmonary hypertension (sequence analysis of BMPR2 gene) Panel

Hereditary hemorrhagic telangiectasia (deletion/duplication analysis of ENG, ALK and BMPR2 genes) Panel

Pulmonary Arterial Hypertension (PAH) via BMPR2 Gene Sequencing with CNV Detection Panel

Pulmonary hypertension NGS panel Panel

Vascular malformations Deletion / Duplication panel Panel

Pulmonary hypertension Deletion / Duplication panel Panel

Pulmonary hypertension Comprehensive panel Panel

Vascular malformations NGS panel Panel

Vascular malformations Comprehensive panel Panel

Heart Diseases - panels Panel

Pulmonary diseases - panels Panel

Vascular and connective tissue diseases - panels Panel

Pulmonary hypertension, primary type Panel

Pulmonary venoocclusive disease type 1 Panel

Comprehensive pulmonary disease panel Panel

Pulmonary Arterial Hypertension Panel

BMPR2 gene sequencing Panel

Pulmonary arterial hypertension Panel

Hereditary Haemorrhagic Telangiectasia Panel Panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Pulmonary Hypertension Panel Panel

Cardiovascular Diseases_General Panel Panel

Hereditary hemorrhagic telangiectasia Panel Panel

Pulmonary hypertension Panel Panel

Invitae Pulmonary Arterial Hypertension Panel Panel

Pulmonary Hypertension, Primary: BMPR2 gene sequence analysis Panel

Pulmonary Hypertension, Primary: BMPR2 gene deletions-duplications analysis (MLPA) Panel

Heritable pulmonary arterial hypertension Panel

Pulmonary hypertension - PPH1 Panel

Pulmonary Arterial Hypertension: Sequencing Panel Panel

Pulmonary Disease: Comprehensive Sequencing Panel Panel

Comprehensive Cardiovascular: Sequencing Panel Panel

Comprehensive Cardiovascular: Deletion/Duplication Panel Panel

Lung Disorders NGS Panel Panel

Pulmonary Hypertension NGS Panel Panel

BMPR2 Panel

Hereditary hemorrhagic telangiectasia (HHT) Panel

Congenital Structural Heart Disease Panel Panel