What is NEPHROTIC SYNDROME, TYPE 14 (NPHS14)?

rare autosomal recessive mutation in the SGPL1 gene

Which enzymes are involved?

Sphingosine-1-phosphate lyase 1

Disease	NEPHROTIC SYNDROME, TYPE 14 (NPHS14)
Synonym	SPHINGOSINE PHOSPHATE LYASE INSUFFICIENCY SYNDROME (SPLIS)
OMIM	617575 OMIM = Online Mendelian Inheritance of Men
Orphanet	506334
Protein (UniProt)	Sphingosine-1-phosphate lyase 1
ExPASy	4.1.2.27
Gene locus	10q22.1
ICD
Summary	rare autosomal recessive mutation in the SGPL1 gene
Laboratory findings	Cholesterol inc (serum) Sodium dec (serum) Triglycerides inc (serum)
Symptoms	adrenal calcification adrenal insufficiency ataxia cryptorchism developmental delay edema feeding difficulties, poor feeding hearing defect, deafness hydrops fetalis hyperpigmentation hypoglycemia hypothyroidism ichthyosis immunodeficiency microcephaly (<2 SD for age) micropenis nephrotic syndrome onset, childhood onset, fetus onset, infancy onset, neonatal proteinuria ptosis (drooping eyelid) renal failure, acute/chronic seizures speech development, delayed, abnormal strabismus