nephrotic syndrome 14

Findings

No curated finding names nephrotic syndrome 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Infantile onset · Juvenile onset · Progressive · Childhood onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• disorder of phospholipids, sphingolipids and fatty acids biosynthesis
• familial nephrotic syndrome
• steroid-resistant nephrotic syndrome
• syndromic dyslipidemia

Resolves to: nephrotic syndrome 14

Also called

familial steroid-resistant nephrotic syndrome with adrenal insufficiencynephrotic syndrome, type 14primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiencyrenal, endocrine, neurologic and immune syndromeRENI syndromeSGPL1 deficiency, steroid-resistant nephrotic syndrome type 14sphingosine phosphate lyase insufficiency syndromeSPLIS