Abnormality of the skeletal system, and Pulmonary arterial hypertension

Diseases related with Abnormality of the skeletal system and Pulmonary arterial hypertension

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Pulmonary arterial hypertension that can help you solving undiagnosed cases.


Top matches:

Low match PULMONARY HYPERTENSION, PRIMARY, 2; PPH2


Related symptoms:

  • Hypertension
  • Pulmonary arterial hypertension
  • Increased pulmonary vascular resistance


SOURCES: OMIM MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 2; PPH2

Low match PULMONARY HYPERTENSION, PRIMARY, 3; PPH3


Related symptoms:

  • Hypertension
  • Dyspnea
  • Pulmonary arterial hypertension
  • Elevated pulmonary artery pressure
  • Increased pulmonary vascular resistance


SOURCES: OMIM MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 3; PPH3

Low match ATRIAL SEPTAL DEFECT 9; ASD9


Related symptoms:

  • Pulmonary arterial hypertension
  • Secundum atrial septal defect


SOURCES: OMIM MENDELIAN

More info about ATRIAL SEPTAL DEFECT 9; ASD9

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match PULMONARY HYPERTENSION, PRIMARY, 4; PPH4


Primary pulmonary hypertension is a rare progressive disease characterized by increased pulmonary artery pressure in the absence of common causes of pulmonary hypertension, such as chronic heart, lung, or thromboembolic disease. There is often vascular remodeling. The clinical presentation can be nonspecific, and patients often receive a diagnosis late in their clinical course (summary by Ma et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (OMIM ).

Related symptoms:

  • Hypertension
  • Dilatation
  • Arrhythmia
  • Pulmonary arterial hypertension
  • Thromboembolism


SOURCES: OMIM MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 4; PPH4

Low match CARDIOMYOPATHY, DILATED, 1R; CMD1R


Related symptoms:

  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure
  • Hypertrophic cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1R; CMD1R

Low match PULMONARY VENOOCCLUSIVE DISEASE


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.

PULMONARY VENOOCCLUSIVE DISEASE Is also known as pvod

Related symptoms:

  • Hypertension
  • Edema
  • Congestive heart failure
  • Dyspnea
  • Pulmonary arterial hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY VENOOCCLUSIVE DISEASE

Low match ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3


Related symptoms:

  • Hypertension
  • Congestive heart failure
  • Cyanosis
  • Pulmonary arterial hypertension
  • First degree atrioventricular block


SOURCES: OMIM MENDELIAN

More info about ATRIOVENTRICULAR SEPTAL DEFECT 3; AVSD3

Low match LEFT VENTRICULAR NONCOMPACTION 8; LVNC8


Related symptoms:

  • Hypertension
  • Ventriculomegaly
  • Congestive heart failure
  • Arrhythmia
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 8; LVNC8

Low match PULMONARY CAPILLARY HEMANGIOMATOSIS


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 ).

PULMONARY CAPILLARY HEMANGIOMATOSIS Is also known as hemangiomatosis, familial pulmonary capillary

Related symptoms:

  • Hypertension
  • Fatigue
  • Dilatation
  • Dyspnea
  • Cough


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PULMONARY CAPILLARY HEMANGIOMATOSIS

Low match ATRIAL SEPTAL DEFECT 4; ASD4


Related symptoms:

  • Hypertension
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 4; ASD4

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Pulmonary arterial hypertension

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Increased pulmonary vascular resistance Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
Elevated pulmonary artery pressure Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormality of the skeletal system and Pulmonary arterial hypertension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy

Rare Symptoms - Less than 30% cases


Atrial septal defect Left ventricular noncompaction Pulmonary venous occlusion Cardiomyopathy Arrhythmia Dilatation Ventricular septal defect Thromboembolism Mitral stenosis Fatigue Atrioventricular block Myocardial fibrosis Left ventricular failure Abnormal left ventricle morphology Left ventricular noncompaction cardiomyopathy Hemangiomatosis Cough Patent foramen ovale Mitral regurgitation Arterial intimal fibrosis Abnormal heart morphology Mitral valve prolapse Coarctation of aorta Pulmonary capillary hemangiomatosis Midsystolic murmur Ventriculomegaly Restrictive cardiomyopathy Hypertrophic cardiomyopathy Syncope Atrial fibrillation Left ventricular hypertrophy Ventricular arrhythmia Myocarditis ST segment depression Inlet ventricular septal defect Edema Pulmonary edema Secundum atrial septal defect Elevated jugular venous pressure Cyanosis First degree atrioventricular block Primum atrial septal defect Endocardial fibroelastosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Hypertriglyceridemia, related diseases and genetic alterations Brachydactyly and Nail dysplasia, related diseases and genetic alterations Immunodeficiency and Aortic valve stenosis, related diseases and genetic alterations Spasticity and Delayed myelination, related diseases and genetic alterations Muscle weakness and Hydronephrosis, related diseases and genetic alterations Hearing impairment and Arthrogryposis multiplex congenita, related diseases and genetic alterations Peripheral neuropathy and Bulbous nose, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more