Traits

Traits linked to SGPL1

sphingosine-1-phosphate lyase 1

The Human Phenotype Ontology links 31 traits to SGPL1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Focal segmental glomerulosclerosis	Often (30–79%)
Mesangial hypercellularity	Often (30–79%)
Stage 5 chronic kidney disease	Often (30–79%)
Steroid-resistant nephrotic syndrome	Often (30–79%)
Diffuse mesangial sclerosis	Not recorded
Nephrotic syndrome	Not recorded
Podocyte foot process effacement	Not recorded
Short penis	Not recorded
Undescended testes	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)
Ataxia	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Epilepsy	Not recorded
Mental deterioration	Not recorded
Peripheral neuropathy	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fluid retention	Not recorded
High urine protein levels	Not recorded
Increased plasma triglycerides	Not recorded
Low albumin	Not recorded
Low blood sugar	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Always
Adrenal insufficiency	Not recorded
Decreased activity of gonads	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Not recorded
Drooping upper eyelid	Not recorded

Abnormality of the integument

Trait	How often it is seen
Patchy darkened skin	Always
Ichthyosis	Very often (80–99%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Decreased blood lymphocyte number	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Generalized decreased muscle tone	Not recorded

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SGPL1 and how often each is seen. Find out more at hpo.jax.org.

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