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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   fibrosing mediastinitis
  

Disease ID 1792
Disease fibrosing mediastinitis
Definition
Typically, people with fibrosing mediastinitis were originally infected with H. capsulatum as children but the symptoms begin in most patients between the ages of 21 and 40 years of age. There is no evidence that there is a preferred ethnic origin or gender disparity.Patients with histoplasmosis-related fibrosing mediastinitis present with signs of fatigue, shortness of breath (dyspnea), cough with blood (hemoptysis) or without, chronic chest (pleuritic) pain and recurrent pulmonary infection. Typically these symptoms occur because there is occlusion of one of the main vessels in the body such as the superior vena cava (the vein that returns blood from the head and neck, and upper limbs to the right atrium, formed in the superior mediastinum by union of two brachiocephalic veins), the central airways, or pulmonary arteries and/or veins. Superior vena cava syndrome, the swelling that develops in some patients due to obstruction of the vena cava, is a common symptom. Some patients do not have the syndrome, despite having obstruction of the SVC, if collateral alternative veins (sometimes visible on the anterior chest) enlarge sufficiently to return blood to the heart. Cough and shortness of breath are the most common symptoms when obstruction of the central airways occurs. Pulmonary venous obstruction usually presents with shortness of breath and coughing blood (hemoptysis). Symptoms can be present for years before diagnosis.Patients with idiopathic fibrosing mediastinitis may present symptoms of fever, chills, sweats, shortness of breath, cough and chest pain. They may also have fibrosis elsewhere in the body which may cause symptoms at those other sites. - NORD
Reference: NORD
Synonym
fibrosis mediastinal
fibrosis of mediastinum
fibrosis of mediastinum (disorder)
fibrous mediastinitis
fibrous mediastinitis (disorder)
fibrous mediastinitis [ambiguous]
mediastinal fibrosis
mediastinitis sclerosing
mediastinitis, sclerosing
mediastinum fibrosis
sclerosing mediastinitis
sclerosing mediastinitis (disorder)
Orphanet
UMLS
C0264573
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:8)
C0020542  |  pulmonary hypertension  |  3
C0020538  |  hypertension  |  3
C0019655  |  histoplasmosis  |  2
C0036202  |  sarcoidosis  |  1
C0041296  |  tuberculosis  |  1
C0085278  |  antiphospholipid antibody syndrome  |  1
C0043092  |  wegener's granulomatosis  |  1
C0040053  |  thrombosis  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus(Waiting for update.)
Disease ID 1792
Disease fibrosing mediastinitis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:12)
Disease ID 1792
Disease fibrosing mediastinitis
Manually Symptom
UMLS  | Name(Total Manually Symptoms:9)
C2363950  |  pulmonary vein occlusion
C1963220  |  pulmonary hypertension
C1619734  |  pulmonary arterial hypertension
C0497156  |  adenopathy
C0242231  |  coronary stenosis
C0042928  |  vocal cord paralysis
C0038833  |  superior vena cava syndrome
C0038833  |  superior vena cava obstruction
C0038449  |  artery stenosis
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1792
Disease fibrosing mediastinitis
Case(Waiting for update.)