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

RP0080

Number of genes

4 Accredited laboratory test

Examined sequence length

7,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ACE	3921	106180	NM_000789.4	AR
AGT	1458	106150	NM_001382817.3	AR
AGTR1	1080	106165	NM_000685.5	AR
REN	1221	179820	NM_000537.4	AR

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined