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Disease Profile
Sphingosine phosphate lyase insufficiency syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
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ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency; SPL insufficiency syndrome; SPLIS;
Summary
Sphingosine phosphate lyase insufficiency
Symptoms
Although the age of onset is not the same for everyone, the signs and symptoms of sphingosine phosphate lyase insufficiency
• Steroid-resistant nephrotic syndrome (SRNS)
Build-up of fluid (edema)
Loss of
• Adrenal insufficiency
Weight loss
Fatigue
Dark, patchy skin
Vomiting, diarrhea and severe dehydration
• Ichthyosis (dry, thickened, scaly skin)
• Neurological problems: muscle weakness, muscle wasting, problems with movement, and
Other
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Adrenal insufficiency | 0000846 | |
0001251 | ||
0000007 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Diffuse mesangial sclerosis | 0001967 | |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Focal segmental glomerulosclerosis | 0000097 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global developmental delay | 0001263 | |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] |
0002155 |
Hypoalbuminemia |
Low blood albumin
|
0003073 |
Low blood sugar
|
0001943 | |
Decreased activity of gonads
|
0000135 | |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Ichthyosis | 0008064 | |
Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] |
0001888 |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Nephrotic syndrome | 0000100 | |
0009830 | ||
Progressive |
Worsens with time
|
0003676 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Drooping upper eyelid
|
0000508 | |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Stage 5 chronic |
0003774 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
0003828 |
Cause
Diagnosis
Treatment
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
References
- Linhares ND, Arantes RR, Araujo SA, Pena SDJ. Nephrotic syndrome and adrenal insufficiency caused by variant in SGPL1. Clin Kidney Jl. Aug 2018; 11(4):462-467. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070023/.
- Janecke AR, Xu R, Steichen-Gersdorf E, Waldegger S, Entenmann A, Giner T, et al. Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. Hum Mutat. Apr 2017; 38(4):365-372. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384969.
- Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, et al. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. J Clin Invest. Mar 1 2017; 127(3):912-928. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5330730/.
- Choi YJ, Saba JD. Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism. Adv Biol Regul. Jan 2019; 71:128-140. https://www.ncbi.nlm.nih.gov/pubmed/30274713.
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