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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPulmonary veno-occlusive disorder 1+2, differential diagnosis

Summary

Short information

A comprehensive differential diagnostic panel containing 6 guideline-curated genes and altogether 14 curated genes according to the clinical suspicion Pulmonary veno-occlusive disorder

ID
PP6565
Number of genes
3 Accredited laboratory test
Examined sequence length
8,1 kb (Core-/Core-canditate-Genes)
12,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BMPR23117NM_001204.7AD
EIF2AK44950NM_001013703.4AR
ABCC84746NM_000352.6AD

Informations about the disease

Clinical Comment

Subgroup of rare pulmonary hypertension with obliterative fibrosis of small pulmonary veins/venules and/or capillary infiltration of the pulmonary interstitium leading to increased pulmonary vascular resistance + right ventricular dysfunction

 

Synonyms
  • Alias: Pulmonale Venenverschlusskrankheit
  • Alias: Pulmonale kapilläre Hämangiomatose
  • Alias: Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
  • Allelic: Amelia, posterior, pelvic + pulmonary hypoplasia syndrome (TBX4)
  • Allelic: Diabetes mellitus, noninsulin-dependent (ABCC8)
  • Allelic: Diabetes mellitus, permanent neonatal 3, with or without neurologic features (ABCC8)
  • Allelic: Diabetes mellitus, transient neonatal 2 (ABCC8)
  • Allelic: Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
  • Allelic: Hypoglycemia of infancy, leucine-sensitive (ABCC8)
  • Allelic: Telangiectasia, hereditary hemorrhagic, type 5 (GFD2)
  • Allelic: Vesicoureteral reflux 3 (SOX17)
  • Heritable + idiopathic pulmonary arterial hypertension [StatPearls] (ABCC8)
  • Heritable + idiopathic pulmonary arterial hypertension [StatPearls] (AQP1)
  • Heritable + idiopathic pulmonary arterial hypertension [StatPearls] (ATP13A3)
  • Heritable + idiopathic pulmonary arterial hypertension [StatPearls] (BMPR2)
  • Heritable + idiopathic pulmonary arterial hypertension [StatPearls] (KCNK3)
  • Heritable + idiopathic pulmonary arterial hypertension [StatPearls] (KDR)
  • Heritable + idiopathic pulmonary arterial hypertension [StatPearls] (SMAD9)
  • Heritable + idiopathic pulmonary arterial hypertension [StatPearls] (SOX17)
  • Ischiocoxopodopatellar syndrome +/- pulmonary arterial hypertension (TBX4)
  • Lipodystrophy, congenital generalized, type 3 (CAV1)
  • Lipodystrophy, familial partial, type 7 (CAV1)
  • Pulmonary hypertension, familial primary, 1, with/-out HHT (BMPR2)
  • Pulmonary hypertension, primary, 2 (SMAD9)
  • Pulmonary hypertension, primary, 3 (CAV1)
  • Pulmonary hypertension, primary, 4 (KCNK3)
  • Pulmonary hypertension, primary, 5 (ATP13A3)
  • Pulmonary hypertension, primary, fenfluramine/dexfenfluramine-associated (BMPR2)
  • Pulmonary venoocclusive disease 1 (BMPR2)
  • Pulmonary venoocclusive disease 2 (EIF2AK4)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined