Deutsch
IllnessHypertension, pulmonary; differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for pulmonary Hypertension comprising 14 guideline-curated genes and altogether 17 curated genes according to the clinical signs
ID
PP1001
Number of genes
14
Accredited laboratory test
Examined sequence length
28,2 kb (Core-/Core-canditate-Genes)
29,8 kb (Extended panel: incl. additional genes)
29,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
[Sanger]
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| ABCC8 | 4746 | NM_000352.6 | AD, AR | |
| ACVRL1 | 1512 | NM_000020.3 | AD | |
| AQP1 | 810 | NM_198098.4 | Ass | |
| ATP13A3 | 3856 | NM_024524.4 | AR | |
| BMPR2 | 3117 | NM_001204.7 | AD | |
| CAV1 | 537 | NM_001753.5 | AD | |
| EIF2AK4 | 4950 | NM_001013703.4 | AR | |
| ENG | 1878 | NM_000118.3 | AD | |
| GDF2 | 1290 | NM_016204.4 | AD | |
| KCNK3 | 1185 | NM_002246.3 | AD | |
| SMAD9 | 1404 | NM_001127217.3 | AD | |
| SOX17 | 1245 | NM_022454.4 | AD | |
| TBX4 | 1638 | NM_018488.3 | AD, AR | |
| SARS2 | 1563 | NM_001145901.2 | AR |
Informations about the disease
Clinical Comment
Group of diseases with elevated pulmonary arterial resistance leading to right heart failure; progressive, potentially fatal; idiopathic and/or familial, induced by drug/toxin or associated with other diseases like congenital heart disease, connective tissue disease, HIV, schistosomiasis, portal hypertension
Synonyms
- Alias: Pulmonary arterial hypertension
- Alias: Pulmonary hypertension, familial primary, 1, with/-out HHT
- Allelic: Acromesomelic dysplasia, Demirhan type (BMPR1B)
- Allelic: Brachydactyly, type A1, D (BMPR1B)
- Allelic: Brachydactyly, type A2 (BMPR1B)
- Allelic: Lipodystrophy, congenital generalized, type 3 (CAV1)
- Allelic: Lipodystrophy, familial partial, type 7 (CAV1)
- Amelia, posterior, with pelvic + pulmonary hypoplasia syndrome (TBX4)
- Aquaporin-1 deficiency (AQP1)
- Diabetes mellitus, noninsulin-dependent (ABCC8)
- Diabetes mellitus, permanent neonatal 3, with/-out neurologic features (ABCC8)
- Diabetes mellitus, transient neonatal 2 (ABCC8)
- Hemangioma, capillary infantile, susceptibility to (KDR)
- Heritable pulmonary arterial hypertension [panelapp] (ATP13A3)
- Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
- Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (SARS2)
- Hypoglycemia of infancy, leucine-sensitive (ABCC8)
- Immunodeficiency 75 (TET2)
- Ischiocoxopodopatellar syndrome with/-out pulmonary arterial hypertension (TBX4)
- Multiple mitochondrial dysfunctions syndrome 1 (NFU1)
- Pulmonary hypertension, primary, 1 (BMPR2)
- Pulmonary hypertension, primary, 2 (SMAD9)
- Pulmonary hypertension, primary, 3 (CAV1)
- Pulmonary hypertension, primary, 4 (KCNK3)
- Pulmonary hypertension, primary, fenfluramine or 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
- Ass
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined