SPLIS
MCID: SPH021
MIFTS: 15

Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

Categories: Endocrine diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Sphingosine Phosphate Lyase Insufficiency Syndrome

MalaCards integrated aliases for Sphingosine Phosphate Lyase Insufficiency Syndrome:

Name: Sphingosine Phosphate Lyase Insufficiency Syndrome 25 20
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome Due to Sgpl1 Deficiency 20
Familial Steroid-Resistant Nephrotic Syndrome with Adrenal Insufficiency 20
Primary Adrenal Insufficiency-Steroid-Resistant Nephrotic Syndrome 20
Steroid-Resistant Nephrotic Syndrome Type 14 25
Nephrotic Syndrome Type 14 20
Spl Insufficiency Syndrome 20
Sgpl1 Deficiency 25
Sgpl1 Disorder 20
Splis 20

Classifications:



Summaries for Sphingosine Phosphate Lyase Insufficiency Syndrome

GARD : 20 Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is a very rare condition that affects the kidneys, adrenal glands and nervous system. Symptoms vary from individual to individual, but most people with SPLIS have signs of abnormal kidney and adrenal gland function, which can include a build- up of extra fluid, vomiting and diarrhea. Some people with SPLIS have dry, scaly, cracked or darkened skin and problems with their immune system. Some people with SPLIS have neurological problems that can include nerve-related hearing loss, a drooping eyelid, tingling in arms and legs, difficulty moving limbs, or seizures . SPLIS is caused by genetic changes ( mutations ) of the sphingosine-1-phosphate lyase 1 gene ( SGPL1 ) and is inherited in an autosomal recessive pattern . SPLIS is diagnosed based on the symptoms, clinical examination, and through genetic testing. There is no specific treatment for SPLIS . Medication and supportive care can help with some of the symptoms. The long-term outlook for people with these disorders is unknown.

MalaCards based summary : Sphingosine Phosphate Lyase Insufficiency Syndrome, also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency, is related to nephrotic syndrome and lymphopenia. An important gene associated with Sphingosine Phosphate Lyase Insufficiency Syndrome is SGPL1 (Sphingosine-1-Phosphate Lyase 1). Affiliated tissues include adrenal gland.

GeneReviews: NBK562988

Related Diseases for Sphingosine Phosphate Lyase Insufficiency Syndrome

Diseases related to Sphingosine Phosphate Lyase Insufficiency Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nephrotic syndrome 10.4
2 lymphopenia 10.4
3 primary adrenal insufficiency 10.4
4 alacrima, achalasia, and mental retardation syndrome 10.2
5 nephrotic syndrome, type 14 10.2
6 ichthyosis 10.2
7 sphingolipidosis 10.2
8 sensory peripheral neuropathy 10.2
9 familial glucocorticoid deficiency 10.0
10 hypoglycemia 10.0

Graphical network of the top 20 diseases related to Sphingosine Phosphate Lyase Insufficiency Syndrome:



Diseases related to Sphingosine Phosphate Lyase Insufficiency Syndrome

Symptoms & Phenotypes for Sphingosine Phosphate Lyase Insufficiency Syndrome

Drugs & Therapeutics for Sphingosine Phosphate Lyase Insufficiency Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison of Bowel Cleansing Efficacy Between Same-day Dose Versus Split Dose : A Single Center, Operator Blinded, Prospective Randomized Controlled Trial Completed NCT03315949 Phase 3 Polyethylene Glycol (PEG)

Search NIH Clinical Center for Sphingosine Phosphate Lyase Insufficiency Syndrome

Genetic Tests for Sphingosine Phosphate Lyase Insufficiency Syndrome

Anatomical Context for Sphingosine Phosphate Lyase Insufficiency Syndrome

MalaCards organs/tissues related to Sphingosine Phosphate Lyase Insufficiency Syndrome:

40
Adrenal Gland

Publications for Sphingosine Phosphate Lyase Insufficiency Syndrome

Articles related to Sphingosine Phosphate Lyase Insufficiency Syndrome:

(show all 25)
# Title Authors PMID Year
1
Sphingosine phosphate lyase insufficiency syndrome (SPLIS): A novel inborn error of sphingolipid metabolism. 25 61 20
30274713 2019
2
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation. 61 25
32233035 2020
3
SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. 25 61
30517686 2019
4
MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome. 25
32855188 2020
5
Primary adrenal insufficiency: New genetic causes and their long-term consequences. 25
31610036 2020
6
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. 25
31953710 2020
7
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy. 25
32322566 2020
8
Disarranged Sphingolipid Metabolism From Sphingosine-1-Phosphate Lyase Deficiency Leads to Congenital Nephrotic Syndrome. 25
31844815 2019
9
A system-based approach to the genetic etiologies of non-immune hydrops fetalis. 25
31087399 2019
10
Fifty years of lyase and a moment of truth: sphingosine phosphate lyase from discovery to disease. 25
30635364 2019
11
Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how? 25
29181713 2019
12
Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Questions. 25
29959530 2019
13
Persistent hypoglycemic attacks during hemodialysis sessions in an infant with congenital nephrotic syndrome: Answers. 25
29959533 2019
14
Laboratory diagnostic approaches in metabolic disorders. 25
30740401 2018
15
Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1. 25
30090628 2018
16
A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. 25
29501407 2018
17
Clinical, biochemical, and genetic aspects of Sjögren-Larsson syndrome. 25
28543186 2018
18
MECHANISMS IN ENDOCRINOLOGY: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. 25
28450305 2017
19
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
20
Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. 25
28181337 2017
21
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. 25
28165339 2017
22
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. 25
28165343 2017
23
Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. 25
28077491 2017
24
The interplay between bioactive sphingolipids and steroid hormones. 25
20138078 2010
25
Sphingosine Phosphate Lyase Insufficiency Syndrome 61
33074640 2020

Variations for Sphingosine Phosphate Lyase Insufficiency Syndrome

Expression for Sphingosine Phosphate Lyase Insufficiency Syndrome

Search GEO for disease gene expression data for Sphingosine Phosphate Lyase Insufficiency Syndrome.

Pathways for Sphingosine Phosphate Lyase Insufficiency Syndrome

GO Terms for Sphingosine Phosphate Lyase Insufficiency Syndrome

Sources for Sphingosine Phosphate Lyase Insufficiency Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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