MCID: SLT013
MIFTS: 30

Salt and Pepper Syndrome

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin 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 58
Salt & Pepper Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
salt-and-pepper syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Salt and Pepper Syndrome

Disease Ontology : 12 A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has material basis in homozygous or compound heterozygous mutation in SIAT9 on chromosome 2p11.2.

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 ST3GAL5 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include eye, brain and skin, and related phenotypes are failure to thrive and vomiting

Related Diseases for Salt and Pepper Syndrome

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

Human phenotypes related to Salt and Pepper Syndrome:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 hallmark (90%) HP:0001508
2 vomiting 31 hallmark (90%) HP:0002013
3 irritability 31 hallmark (90%) HP:0000737
4 feeding difficulties 31 hallmark (90%) HP:0011968
5 global developmental delay 31 frequent (33%) HP:0001263
6 dyskinesia 31 frequent (33%) HP:0100660
7 optic atrophy 31 frequent (33%) HP:0000648
8 developmental regression 31 frequent (33%) HP:0002376
9 intellectual disability, severe 31 frequent (33%) HP:0010864
10 ataxia 31 frequent (33%) HP:0001251
11 tremor 31 frequent (33%) HP:0001337
12 absent speech 31 frequent (33%) HP:0001344
13 poor eye contact 31 frequent (33%) HP:0000817
14 generalized hypotonia 31 frequent (33%) HP:0001290
15 functional motor deficit 31 frequent (33%) HP:0004302
16 cerebral visual impairment 31 frequent (33%) HP:0100704
17 macular hyperpigmented dermopathy 31 frequent (33%) HP:0007412
18 incoordination 31 frequent (33%) HP:0002311
19 myoclonic spasms 31 frequent (33%) HP:0003739
20 slow decrease in visual acuity 31 frequent (33%) HP:0007924
21 lower limb hyperreflexia 31 frequent (33%) HP:0002395
22 global brain atrophy 31 frequent (33%) HP:0002283
23 hyporeflexia of upper limbs 31 frequent (33%) HP:0012391
24 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
25 microcephaly 31 occasional (7.5%) HP:0000252
26 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
27 increased serum lactate 31 occasional (7.5%) HP:0002151
28 cerebral palsy 31 occasional (7.5%) HP:0100021
29 status epilepticus 31 occasional (7.5%) HP:0002133
30 choreoathetosis 31 occasional (7.5%) HP:0001266
31 tetraparesis 31 occasional (7.5%) HP:0002273
32 hyperintensity of cerebral white matter on mri 31 occasional (7.5%) HP:0030890
33 hyperpigmented/hypopigmented macules 31 occasional (7.5%) HP:0007441

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-107 9.28 B3GNT5
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.28 MPPE1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 9.28 MPPE1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-174 9.28 B3GNT5
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.28 MPPE1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.28 B3GNT5
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-24 9.28 MPPE1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-29 9.28 MPPE1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.28 B3GNT5

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

MalaCards organs/tissues related to Salt and Pepper Syndrome:

40
Eye, Brain, Skin

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 9.91 ST3GAL5 PIGY PIGM PGAP1 MPPE1 DPM2
2 integral component of membrane GO:0016021 9.76 ST3GAL5 PIGY PIGM PGAP1 MPPE1 DPM2
3 endoplasmic reticulum membrane GO:0005789 9.62 PIGY PIGM PGAP1 DPM2
4 endoplasmic reticulum GO:0005783 9.43 PIGY PIGM PGAP1 DPM2 CTSA B3GNT5
5 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 8.62 PIGY DPM2

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.5 ST3GAL5 DPM2 B3GNT5
2 positive regulation of catalytic activity GO:0043085 9.43 DPM2 CTSA
3 regulation of protein stability GO:0031647 9.4 DPM2 CTSA
4 glycosphingolipid metabolic process GO:0006687 9.37 CTSA B4GALNT1
5 ganglioside biosynthetic process GO:0001574 9.26 ST3GAL5 B4GALNT1
6 glycosphingolipid biosynthetic process GO:0006688 9.16 ST3GAL5 B4GALNT1
7 preassembly of GPI anchor in ER membrane GO:0016254 9.13 PIGY PIGM DPM2
8 GPI anchor biosynthetic process GO:0006506 9.02 PIGY PIGM PGAP1 MPPE1 DPM2

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

# Name GO ID Score Top Affiliating Genes
1 enzyme activator activity GO:0008047 9.26 DPM2 CTSA
2 transferase activity, transferring glycosyl groups GO:0016757 9.26 ST3GAL5 PIGM B4GALNT1 B3GNT5
3 acetylgalactosaminyltransferase activity GO:0008376 9.16 B4GALNT1 B3GNT5
4 transferase activity, transferring hexosyl groups GO:0016758 8.8 PIGM B4GALNT1 B3GNT5

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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