Table 3.

Genes of Interest in the Differential Diagnosis of Sphingosine Phosphate Lyase Insufficiency Syndrome

Gene(s)DiffDx Disorder(s)MOIFeatures of the DiffDx Disorder
Overlapping w/SPLISDistinguishing from SPLIS
ALDH3A2 Sjögren-Larsson syndrome 1ARIchthyosis; intellectual disability; abnormal brain MRISpasticity; lack of kidney involvement
GBA1 (GBA)Gaucher disease type 2ARIchthyosis; nonimmune hydrops; abnormal brain MRIHepatosplenomegaly; pancytopenia
LAMB2 Pierson syndrome (OMIM 609049)ARSteroid-resistant nephrotic syndrome; developmental delayMicrocoria
LIPA Lysosomal acid lipase deficiency ARAdrenal calcificationsHepatic fibrosis & cirrhosis; intestinal malabsorption
LMX1B Nail-patella syndrome ADSteroid-resistant nephrotic syndrome; sensorineural hearing lossNail dysplasia; hypoplastic or absent patellae; eye anomalies
NPHS1
NPHS2
PLCE1 		Congenital nephrotic syndrome types 1, 2, & 3 (OMIM 256300, 600995, 610725)ARSteroid-resistant nephrotic syndromeAbsence of additional syndromic findings
SMARCAL1 Schimke immunoosseous dysplasia ARSteroid-resistant nephrotic syndrome; T-cell lymphopeniaSpondyloepiphyseal dysplasia; numerous lentigines

AD = autosomal dominant; AR = autosomal recessive; DiffDx = differential diagnosis; MOI = mode of inheritance; SPLIS = sphingosine phosphate lyase insufficiency syndrome

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From: Sphingosine Phosphate Lyase Insufficiency Syndrome

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