Details of Disease

General Information of Disease (ID: DISI74ED)

Disease Name Nephrotic syndrome 14
Synonyms
familial steroid-resistant nephrotic syndrome with adrenal insufficiency; NPHS14; nephrotic syndrome, type 14; primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency; nephrotic syndrome 14
Disease Hierarchy
DISPGGVL: Syndromic dyslipidemia
DISVEBC9: Steroid-resistant nephrotic syndrome
DISADF8G: Familial nephrotic syndrome
DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
DISSPSC2: Nephrotic syndrome
DISI74ED: Nephrotic syndrome 14
Disease Identifiers
MONDO ID
MONDO_0033203
UMLS CUI
C4540559
OMIM ID
617575
MedGen ID
1617660
Orphanet ID
506334

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SGPL1 TT618Q2 Strong Autosomal recessive [1]
SGPL1 TT618Q2 Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SGPL1 OTZFNWMB Strong Autosomal recessive [1]
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References

1 Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6.
2 Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1.Clin Kidney J. 2018 Aug;11(4):462-467. doi: 10.1093/ckj/sfx130. Epub 2017 Nov 13.