IllnessRenal-tubular dysgenesis, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Renal-tubular dysgenesis comprising 4 curated genes according to the clinical signs
ID
RP0080
Number of genes
4
Accredited laboratory test
Examined sequence length
7,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Fetal disorder with absent/poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large + flat low-set ears, lung hypoplasia, arthrogryposis, limb positioning defects), skull ossification defects; can be acquired during fetal development due to maternal drugs or certain disorders (twin-twin transfusion syndrome, TTTS) or AR inherited
Synonyms
- Alias: Primitive renal tubule syndrome
- Alias: Renal tubular dysgenesis with choanal atresis + athelia
- Alias: Renotubular dysgenesis
- Allelic: Angiotensin I-converting enzyme, benign serum increase (ACE)
- Allelic: Hyperproreninemia (REN)
- Allelic: Hypertension, essential (AGTR)
- Allelic: Hypertension, essential, susceptibility to (AGT)
- Allelic: Hyperuricemic nephropathy, familial juvenile (REN)
- Allelic: Microvascular complications of diabetes 3 (ACE)
- Allelic: Myocardial infarction, susceptibility to (ACE)
- Allelic: Preeclampsia, susceptibility to (AGT)
- Allelic: SARS, progression of (ACE)
- Allelic: Stroke, hemorrhagic (ACE)
- Renal tubular dysgenesis (ACE, AGT, AGTR, REN)
Heredity, heredity patterns etc.
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q63.8
Bioinformatics and clinical interpretation
No text defined