MCID: SLT013
MIFTS: 17

Salt and Pepper Syndrome

Categories: Genetic diseases

Aliases & Classifications for Salt and Pepper Syndrome

MalaCards integrated aliases for Salt and Pepper Syndrome:

Name: Salt and Pepper Syndrome 12 15
Salt-and-Pepper Syndrome 12
Salt & Pepper Syndrome 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060470

Summaries for Salt and Pepper Syndrome

Disease Ontology : 12 An autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation.

MalaCards based summary : Salt and Pepper Syndrome, also known as salt-and-pepper syndrome, is related to salt and pepper developmental regression syndrome and cohen syndrome. An important gene associated with Salt and Pepper Syndrome is B3GNT5 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 5), and among its related pathways/superpathways are Metabolism and Synthesis of substrates in N-glycan biosythesis. Related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Salt and Pepper Syndrome

Diseases related to Salt and Pepper Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 salt and pepper developmental regression syndrome 11.6
2 cohen syndrome 9.9
3 alacrima, achalasia, and mental retardation syndrome 9.9
4 scoliosis 9.9
5 farber lipogranulomatosis 8.8 ACER3 ACER2 ACER1

Graphical network of the top 20 diseases related to Salt and Pepper Syndrome:



Diseases related to Salt and Pepper Syndrome

Symptoms & Phenotypes for Salt and Pepper Syndrome

GenomeRNAi Phenotypes related to Salt and Pepper Syndrome according to GeneCards Suite gene sharing:

26 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.66 ST3GAL5
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.66 ST3GAL5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-152 9.66 AP1S3
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.66 AP1S3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.66 AP1S3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.66 CTSA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.66 AP1S3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.66 CTSA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.66 CTSA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.66 CTSA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.66 AP1S3 CTSA ST3GAL5
12 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.66 ST3GAL5
13 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.66 AP1S3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.66 CTSA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.66 AP1S3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.66 CTSA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.66 CTSA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.66 AP1S3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.66 CTSA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.66 CTSA

Drugs & Therapeutics for Salt and Pepper Syndrome

Search Clinical Trials , NIH Clinical Center for Salt and Pepper Syndrome

Genetic Tests for Salt and Pepper Syndrome

Anatomical Context for Salt and Pepper Syndrome

Publications for Salt and Pepper Syndrome

Articles related to Salt and Pepper Syndrome:

# Title Authors PMID Year
1
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. 61
24026681 2014

Variations for Salt and Pepper Syndrome

Expression for Salt and Pepper Syndrome

Search GEO for disease gene expression data for Salt and Pepper Syndrome.

Pathways for Salt and Pepper Syndrome

GO Terms for Salt and Pepper Syndrome

Cellular components related to Salt and Pepper Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.76 ST6GAL1 ST3GAL5 CTSA B3GNT5 AP1S3 ACER3
2 endoplasmic reticulum GO:0005783 9.62 CTSA B3GNT5 ACER3 ACER1
3 Golgi apparatus GO:0005794 9.43 ST6GAL1 ST3GAL5 B3GNT5 AP1S3 ACER3 ACER2
4 integral component of Golgi membrane GO:0030173 9.26 ACER3 ACER2
5 Golgi membrane GO:0000139 9.02 ST6GAL1 ST3GAL5 B3GNT5 AP1S3 ACER2

Biological processes related to Salt and Pepper Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.63 ACER3 ACER2 ACER1
2 protein glycosylation GO:0006486 9.54 ST6GAL1 ST3GAL5 B3GNT5
3 sphingolipid biosynthetic process GO:0030148 9.5 ACER3 ACER2 ACER1
4 O-glycan processing GO:0016266 9.43 ST6GAL1 B3GNT5
5 sphingolipid metabolic process GO:0006665 9.43 ACER3 ACER2 ACER1
6 sialylation GO:0097503 9.4 ST6GAL1 ST3GAL5
7 ceramide metabolic process GO:0006672 9.33 ACER3 ACER2 ACER1
8 sphingosine biosynthetic process GO:0046512 9.13 ACER3 ACER2 ACER1
9 ceramide catabolic process GO:0046514 8.8 ACER3 ACER2 ACER1

Molecular functions related to Salt and Pepper Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.54 ST6GAL1 ST3GAL5 B3GNT5
2 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides GO:0016811 9.43 ACER3 ACER2 ACER1
3 N-acylsphingosine amidohydrolase activity GO:0017040 9.33 ACER3 ACER2 ACER1
4 sialyltransferase activity GO:0008373 9.32 ST6GAL1 ST3GAL5
5 ceramidase activity GO:0102121 9.13 ACER3 ACER2 ACER1
6 dihydroceramidase activity GO:0071633 8.8 ACER3 ACER2 ACER1

Sources for Salt and Pepper Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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