Details of Disease

General Information of Disease (ID: DISZ2OFK)

Disease Name Renal tubular dysgenesis
Synonyms primitive renal tubule syndrome; renotubular dysgenesis
Definition
Renal tubular dysgenesis is a rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat low-set ears, lung hypoplasia arthrogryposis and limb positioning defects), and skull ossification defects. It can be acquired during fetal development due to drugs taken by the mother or certain disorders (twin-twin transfusion syndrome, TTTS) or inherited in an autosomal recessive manner.
Disease Hierarchy
DISXWP4P: Nephropathy
DISZ2OFK: Renal tubular dysgenesis
Disease Identifiers
MONDO ID
MONDO_0017609
MESH ID
C537048
UMLS CUI
C0266313
OMIM ID
267430
MedGen ID
82738
HPO ID
HP:0008660
Orphanet ID
3033
SNOMED CT ID
702397002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AGT TT5C0UB Limited Biomarker [1]
AGTR1 TT8DBY3 moderate Biomarker [2]
HAAO TTWON83 Strong CausalMutation [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACE OTDF1964 Strong Genetic Variation [4]
PAX2 OTKP1N8F Strong CausalMutation [5]
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References

1 Novel variants detected in AGT gene among patients with essential hypertension.J Renin Angiotensin Aldosterone Syst. 2015 Sep;16(3):642-6. doi: 10.1177/1470320313513483. Epub 2014 Jan 22.
2 Molecular and clinical analysis of TRPC6 and AGTR1 genes in patients with pulmonary arterial hypertension.Orphanet J Rare Dis. 2015 Jan 21;10:1. doi: 10.1186/s13023-014-0216-3.
3 NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552.
4 Renal tubular dysgenesis and microcolon, a novel association. Report of three cases.Eur J Med Genet. 2019 Apr;62(4):254-258. doi: 10.1016/j.ejmg.2018.07.024. Epub 2018 Jul 31.
5 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.