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Summary
NEPHROTIC SYNDROME, TYPE 14 (NPHS14)
SPHINGOSINE PHOSPHATE LYASE INSUFFICIENCY SYNDROME (SPLIS)
617575
OMIM = Online Medalian Inheritance of Men
506334
10q22.1
rare
autosomal recessive
mutation in the SGPL1 gene
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
laboratory finding
Triglycerides mg/dlserum
Cholesterol mmol/lserum
Sodium mmol/lserum
Literature
Bas F,et al.Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter studyEndocrine492479-4912015
El-Hattab AWSystemic Primary Carnitine DeficiencyGeneReviews-« Internet002016
Lehmann D,et al.Muscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical FeaturesInt J Mol Sci181E82-2017
VanDyke DH,et al.Hereditary carnitine deficiency of muscleNeurology252154-1591975
Olsen RKJ,et al.Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyAm J Hum Genet9861130-11452016