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GTR Home > Conditions/Phenotypes > Nephrotic syndrome 14

Nephrotic syndrome 14

Synonyms
RENAL, ENDOCRINE, NEUROLOGIC, AND IMMUNE SYNDROME; RENI SYNDROME

Summary

Excerpted from the GeneReview: Sphingosine Phosphate Lyase Insufficiency Syndrome
Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Kathryn Nicole Weaver
Bonnie Sullivan
Friedhelm Hildebrandt
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Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NPHS14, RENI, S1PL, SPL, SGPL1
    Summary: sphingosine-1-phosphate lyase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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