Details of Disease

General Information of Disease (ID: DISIP4Y5)

Disease Name Renal tubular dysgenesis of genetic origin
Synonyms primitive renal tubule syndrome; RTD; renal tubular dysgenesis; renal tubular dysgenesis with choanal atresia and athelia; genetic renal tubular dysgenesis; renal tubular dysgenesis of genetic origin
Definition An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISZ2OFK: Renal tubular dysgenesis
DISNCQLA: Inherited kidney disorder
DISIP4Y5: Renal tubular dysgenesis of genetic origin
Disease Identifiers
MONDO ID
MONDO_0009970
UMLS CUI
C5681536
MedGen ID
1826125
Orphanet ID
97369

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ACE TTL69WB Strong Autosomal recessive [1]
AGT TT5C0UB Strong Autosomal recessive [2]
AGTR1 TT8DBY3 Strong Autosomal recessive [3]
REN TTB2MXP Definitive Autosomal recessive [4]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACE OTDF1964 Strong Autosomal recessive [1]
AGT OTBZLYR3 Strong Autosomal recessive [2]
AGTR1 OT2NRMJP Strong Autosomal recessive [3]
REN OT52GZR2 Definitive Autosomal recessive [4]
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References

1 Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22.
2 Genetic evidence that lethality in angiotensinogen-deficient mice is due to loss of systemic but not renal angiotensinogen. J Biol Chem. 2001 Mar 9;276(10):7431-6. doi: 10.1074/jbc.M003892200. Epub 2000 Nov 28.
3 [On perceptions in nursing. Discussion]. Kangogaku Zasshi. 1979 Apr;43(4):355-68.
4 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.