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

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

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
BMPR2	3117	600799	NM_001204.7	AD
EIF2AK4	4950	609280	NM_001013703.4	AR
ABCC8	4746	600509	NM_000352.6	AD

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined