SPDRS
MCID: SLT014
MIFTS: 37

Salt and Pepper Developmental Regression Syndrome (SPDRS)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Salt and Pepper Developmental Regression Syndrome

MalaCards integrated aliases for Salt and Pepper Developmental Regression Syndrome:

Name: Salt and Pepper Developmental Regression Syndrome 58 76 30 6
Amish Infantile Epilepsy Syndrome 58 54 26 60 76 38 13 74
Gm3 Synthase Deficiency 58 54 26 76
Epilepsy Syndrome, Infantile-Onset Symptomatic 58 54 26
Salt and Pepper Mental Retardation Syndrome 58 76
Spdrs 58 76
Infantile-Onset Symptomatic Epilepsy Syndrome-Developmental Stagnation-Blindness Syndrome 60
Infantile-Onset Symptomatic Epilepsy Syndrome - Developmental Stagnation - Blindness 54
Syndrome, Salt and Pepper Developmental Regression 41
Infantile-Onset Symptomatic Epilepsy Syndrome 26
Epilepsy Syndrome Infantile-Onset Symptomatic 76
Ganglioside Gm3 Synthase Deficiency 26
Salt-and-Pepper Syndrome 60
St3gal5-Cdg 54
Aies 76

Characteristics:

Orphanet epidemiological data:

60
amish infantile epilepsy syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
salt-and-pepper syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy, between 2 weeks and 3 months
old order amish, african american, french, and korean patients have been described
hyperpigmented skin macules appear after age 3 years and increase in frequency with age


HPO:

33
salt and pepper developmental regression syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Salt and Pepper Developmental Regression Syndrome

NIH Rare Diseases : 54 GM3 synthase deficiency is a rare neurological disorder in which the brain does not develop normally. Symptoms of the disease begin within the first weeks or months of life and include difficulty feeding, irritability, vomiting, and seizures accompanied by loss of consciousness (grand mal seizures). Vision and hearing loss, spots of darker skin color (hyperpigmentation), and intellectual and developmental delays develop as the disease progresses. GM3 synthase deficiency is a congenital disorder of glycosylation and includes both cases described as Amish infantile epilepsysyndrome and cases described as salt & pepper syndrome. GM3 synthase deficiency is caused by a mutation in the ST3GAL5 gene and is inherited in an autosomal recessive manner. The ST3GAL5 gene tells the body to make an enzyme that supports gangliosides, which are molecules that are important for brain development and function. GM3 synthase deficiency is suspected when a child presents with symptoms characteristic of the disease. Genetic testing confirms the diagnosis. Treatment is focused on relieving symptoms of the disease, which may include nutritional and feeding support and medications to lessen the severity of seizures. Although there is no cure for the condition, children with GM3 synthase deficiency have lived into early adulthood.

MalaCards based summary : Salt and Pepper Developmental Regression Syndrome, also known as amish infantile epilepsy syndrome, is related to salt and pepper syndrome and aland island eye disease, and has symptoms including vomiting and unspecified visual loss. An important gene associated with Salt and Pepper Developmental Regression Syndrome is ST3GAL5 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 5), and among its related pathways/superpathways is Glycosphingolipid biosynthesis - ganglio series. Affiliated tissues include skin, brain and testes, and related phenotypes are failure to thrive and vomiting

Genetics Home Reference : 26 GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications.

OMIM : 58 Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016). (609056)

UniProtKB/Swiss-Prot : 76 Salt and pepper developmental regression syndrome: A rare autosomal recessive disorder characterized by infantile onset of severe, recurrent and refractory seizures, failure to thrive, psychomotor delay, developmental stagnation, and cortical blindness. Deafness is observed in some patients. Affected individuals have patches of skin hypo- or hyperpigmentation on the trunk, face, and extremities.

Related Diseases for Salt and Pepper Developmental Regression Syndrome

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

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 salt and pepper syndrome 12.6
2 aland island eye disease 12.1
3 androgen insensitivity syndrome 12.1
4 amelogenesis imperfecta 12.0
5 autoimmune inner ear disease 11.9
6 scoliosis, isolated 1 11.7
7 aortic valve insufficiency 11.3
8 hereditary amyloidosis 11.3
9 childhood-onset cerebral x-linked adrenoleukodystrophy 11.3
10 pediatric arterial ischemic stroke 11.2
11 amelogenesis imperfecta, type ib 11.2
12 jalili syndrome 11.0
13 amelogenesis imperfecta, type ie 11.0
14 amelogenesis imperfecta, type ij 11.0
15 scoliosis 10.6
16 idiopathic scoliosis 10.6
17 amyloidosis 10.3
18 adenocarcinoma 10.3
19 adenocarcinoma in situ 10.3
20 arteries, anomalies of 10.3
21 coronary artery anomaly 10.2
22 diabetes mellitus 10.2
23 breast cancer 10.1
24 avian influenza 10.1
25 influenza 10.1
26 buschke-ollendorff syndrome 10.1
27 bowenoid papulosis 10.1
28 cervical intraepithelial neoplasia 10.1
29 coronary heart disease 1 10.0
30 myocardial infarction 10.0
31 liver disease 10.0
32 endocervical adenocarcinoma 10.0
33 heart disease 10.0
34 head injury 10.0
35 rett syndrome 10.0
36 epilepsy 10.0
37 neurofibromatosis, type ii 10.0
38 hyperlipidemia, familial combined 10.0
39 hypertriglyceridemia, familial 10.0
40 prostate cancer 10.0
41 prostate cancer, hereditary, 8 10.0
42 prostate cancer, hereditary, 6 10.0
43 inner ear disease 10.0
44 amyloidosis, familial visceral 9.9
45 atherosclerosis susceptibility 9.9
46 hypercholesterolemia, familial 9.9
47 dowling-degos disease 1 9.9
48 retinoblastoma 9.9
49 anemia, autoimmune hemolytic 9.9
50 body mass index quantitative trait locus 11 9.9

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



Diseases related to Salt and Pepper Developmental Regression Syndrome

Symptoms & Phenotypes for Salt and Pepper Developmental Regression Syndrome

Human phenotypes related to Salt and Pepper Developmental Regression Syndrome:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 vomiting 60 33 hallmark (90%) Very frequent (99-80%) HP:0002013
3 irritability 60 33 hallmark (90%) Very frequent (99-80%) HP:0000737
4 feeding difficulties 60 33 hallmark (90%) Very frequent (99-80%) HP:0011968
5 ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0001251
6 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
7 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
8 global developmental delay 60 33 frequent (33%) Frequent (79-30%) HP:0001263
9 dyskinesia 60 33 frequent (33%) Frequent (79-30%) HP:0100660
10 optic atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0000648
11 intellectual disability, severe 60 33 frequent (33%) Frequent (79-30%) HP:0010864
12 absent speech 60 33 frequent (33%) Frequent (79-30%) HP:0001344
13 generalized tonic-clonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002069
14 slow decrease in visual acuity 60 33 frequent (33%) Frequent (79-30%) HP:0007924
15 myoclonic spasms 60 33 frequent (33%) Frequent (79-30%) HP:0003739
16 generalized hypotonia 60 33 frequent (33%) Frequent (79-30%) HP:0001290
17 lower limb hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0002395
18 hyporeflexia of upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0012391
19 incoordination 60 33 frequent (33%) Frequent (79-30%) HP:0002311
20 functional motor deficit 60 33 frequent (33%) Frequent (79-30%) HP:0004302
21 cerebral visual impairment 60 33 frequent (33%) Frequent (79-30%) HP:0100704
22 global brain atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0002283
23 macular hyperpigmented dermopathy 60 33 frequent (33%) Frequent (79-30%) HP:0007412
24 poor eye contact 60 33 frequent (33%) Frequent (79-30%) HP:0000817
25 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
26 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
27 increased serum lactate 60 33 occasional (7.5%) Occasional (29-5%) HP:0002151
28 status epilepticus 60 33 occasional (7.5%) Occasional (29-5%) HP:0002133
29 choreoathetosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001266
30 hyperintensity of cerebral white matter on mri 60 33 occasional (7.5%) Occasional (29-5%) HP:0030890
31 cerebral palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0100021
32 tetraparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002273
33 hyperpigmented/hypopigmented macules 60 33 occasional (7.5%) Occasional (29-5%) HP:0007441
34 hearing impairment 33 occasional (7.5%) HP:0000365
35 seizures 60 Very frequent (99-80%)
36 muscular hypotonia 33 HP:0001252
37 feeding difficulties in infancy 33 HP:0008872
38 myoclonus 33 HP:0001336
39 visual loss 33 HP:0000572
40 hypermelanotic macule 33 HP:0001034
41 multifocal epileptiform discharges 33 HP:0010841
42 developmental stagnation at onset of seizures 33 HP:0006834

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Head And Neck Eyes:
optic atrophy
loss of vision
decreased eye contact
eye deviation
cortical visual impairment

Neurologic Behavioral Psychiatric Manifestations:
irritability

Head And Neck Head:
microcephaly (in some patients)

Neurologic Peripheral Nervous System:
hyporeflexia in the upper limbs
hyperreflexia in the lower limbs

Neurologic Central Nervous System:
developmental regression
status epilepticus
hypotonia
delayed psychomotor development
diffuse brain atrophy
more
Abdomen Gastrointestinal:
vomiting
poor feeding

Head And Neck Ears:
deafness (in some patients)

Skin Nails Hair Skin:
dyspigmentation
hyperpigmented 2 to 5-mm macules mainly on the extremities
de- or hypo-pigmented macules (less common)

Clinical features from OMIM:

609056

UMLS symptoms related to Salt and Pepper Developmental Regression Syndrome:


vomiting, unspecified visual loss

Drugs & Therapeutics for Salt and Pepper Developmental Regression Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oral Supplementation of Gangliosides to Treat a Rare Metabolic Disorder Enrolling by invitation NCT02234024 Not Applicable

Search NIH Clinical Center for Salt and Pepper Developmental Regression Syndrome

Genetic Tests for Salt and Pepper Developmental Regression Syndrome

Genetic tests related to Salt and Pepper Developmental Regression Syndrome:

# Genetic test Affiliating Genes
1 Salt and Pepper Developmental Regression Syndrome 30 ST3GAL5

Anatomical Context for Salt and Pepper Developmental Regression Syndrome

MalaCards organs/tissues related to Salt and Pepper Developmental Regression Syndrome:

42
Skin, Brain, Testes, Eye, Liver, Heart, Prostate

Publications for Salt and Pepper Developmental Regression Syndrome

Articles related to Salt and Pepper Developmental Regression Syndrome:

# Title Authors Year
1
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. ( 27232954 )
2016
2
Early growth and development impairments in patients with ganglioside GM3 synthase deficiency. ( 26649472 )
2016
3
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. ( 24026681 )
2014
4
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency. ( 22990144 )
2013
5
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. ( 23436467 )
2013
6
Etiology of vision loss in ganglioside GM3 synthase deficiency. ( 17050284 )
2006
7
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. ( 15502825 )
2004

Variations for Salt and Pepper Developmental Regression Syndrome

ClinVar genetic disease variations for Salt and Pepper Developmental Regression Syndrome:

6 (show top 50) (show all 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 ST3GAL5 NM_003896.3(ST3GAL5): c.862C> T (p.Arg288Ter) single nucleotide variant Pathogenic rs104893668 GRCh37 Chromosome 2, 86071665: 86071665
2 ST3GAL5 NM_003896.3(ST3GAL5): c.862C> T (p.Arg288Ter) single nucleotide variant Pathogenic rs104893668 GRCh38 Chromosome 2, 85844542: 85844542
3 ST3GAL5 NM_003896.3(ST3GAL5): c.1059C> T (p.Cys353=) single nucleotide variant Conflicting interpretations of pathogenicity rs149801673 GRCh37 Chromosome 2, 86067465: 86067465
4 ST3GAL5 NM_003896.3(ST3GAL5): c.1059C> T (p.Cys353=) single nucleotide variant Conflicting interpretations of pathogenicity rs149801673 GRCh38 Chromosome 2, 85840342: 85840342
5 ST3GAL5 NM_003896.3(ST3GAL5): c.311A> G (p.His104Arg) single nucleotide variant Benign rs1138484 GRCh37 Chromosome 2, 86088311: 86088311
6 ST3GAL5 NM_003896.3(ST3GAL5): c.311A> G (p.His104Arg) single nucleotide variant Benign rs1138484 GRCh38 Chromosome 2, 85861188: 85861188
7 ST3GAL5 NM_003896.3(ST3GAL5): c.1063G> A (p.Glu355Lys) single nucleotide variant Pathogenic rs534438354 GRCh37 Chromosome 2, 86067461: 86067461
8 ST3GAL5 NM_003896.3(ST3GAL5): c.1063G> A (p.Glu355Lys) single nucleotide variant Pathogenic rs534438354 GRCh38 Chromosome 2, 85840338: 85840338
9 ST3GAL5 NM_003896.3(ST3GAL5): c.37C> T (p.Pro13Ser) single nucleotide variant Benign/Likely benign rs559756386 GRCh37 Chromosome 2, 86115992: 86115992
10 ST3GAL5 NM_003896.3(ST3GAL5): c.37C> T (p.Pro13Ser) single nucleotide variant Benign/Likely benign rs559756386 GRCh38 Chromosome 2, 85888869: 85888869
11 ST3GAL5 NM_003896.3(ST3GAL5): c.648C> T (p.Phe216=) single nucleotide variant Conflicting interpretations of pathogenicity rs149309844 GRCh37 Chromosome 2, 86074998: 86074998
12 ST3GAL5 NM_003896.3(ST3GAL5): c.648C> T (p.Phe216=) single nucleotide variant Conflicting interpretations of pathogenicity rs149309844 GRCh38 Chromosome 2, 85847875: 85847875
13 ST3GAL5 NM_003896.3(ST3GAL5): c.1212G> A (p.Glu404=) single nucleotide variant Conflicting interpretations of pathogenicity rs148195895 GRCh37 Chromosome 2, 86067312: 86067312
14 ST3GAL5 NM_003896.3(ST3GAL5): c.1212G> A (p.Glu404=) single nucleotide variant Conflicting interpretations of pathogenicity rs148195895 GRCh38 Chromosome 2, 85840189: 85840189
15 ST3GAL5 NM_003896.3(ST3GAL5): c.1247G> T (p.Arg416Leu) single nucleotide variant Uncertain significance rs200683924 GRCh37 Chromosome 2, 86067277: 86067277
16 ST3GAL5 NM_003896.3(ST3GAL5): c.1247G> T (p.Arg416Leu) single nucleotide variant Uncertain significance rs200683924 GRCh38 Chromosome 2, 85840154: 85840154
17 ST3GAL5 NM_003896.3(ST3GAL5): c.850-5C> T single nucleotide variant Benign rs113976691 GRCh37 Chromosome 2, 86071682: 86071682
18 ST3GAL5 NM_003896.3(ST3GAL5): c.850-5C> T single nucleotide variant Benign rs113976691 GRCh38 Chromosome 2, 85844559: 85844559
19 ST3GAL5 NM_003896.3(ST3GAL5): c.82+1G> C single nucleotide variant Likely pathogenic rs878854615 GRCh37 Chromosome 2, 86115946: 86115946
20 ST3GAL5 NM_003896.3(ST3GAL5): c.82+1G> C single nucleotide variant Likely pathogenic rs878854615 GRCh38 Chromosome 2, 85888823: 85888823
21 ST3GAL5 NM_003896.3(ST3GAL5): c.584G> C (p.Cys195Ser) single nucleotide variant Pathogenic rs886037930 GRCh38 Chromosome 2, 85847939: 85847939
22 ST3GAL5 NM_003896.3(ST3GAL5): c.584G> C (p.Cys195Ser) single nucleotide variant Pathogenic rs886037930 GRCh37 Chromosome 2, 86075062: 86075062
23 ST3GAL5 NM_003896.3(ST3GAL5): c.601G> A (p.Gly201Arg) single nucleotide variant Pathogenic rs771732955 GRCh38 Chromosome 2, 85847922: 85847922
24 ST3GAL5 NM_003896.3(ST3GAL5): c.601G> A (p.Gly201Arg) single nucleotide variant Pathogenic rs771732955 GRCh37 Chromosome 2, 86075045: 86075045
25 ST3GAL5 NM_003896.3(ST3GAL5): c.465G> A (p.Glu155=) single nucleotide variant Conflicting interpretations of pathogenicity rs199590656 GRCh37 Chromosome 2, 86075181: 86075181
26 ST3GAL5 NM_003896.3(ST3GAL5): c.465G> A (p.Glu155=) single nucleotide variant Conflicting interpretations of pathogenicity rs199590656 GRCh38 Chromosome 2, 85848058: 85848058
27 ST3GAL5 NM_003896.3(ST3GAL5): c.*976G> T single nucleotide variant Uncertain significance rs775357214 GRCh38 Chromosome 2, 85839168: 85839168
28 ST3GAL5 NM_003896.3(ST3GAL5): c.*976G> T single nucleotide variant Uncertain significance rs775357214 GRCh37 Chromosome 2, 86066291: 86066291
29 ST3GAL5 NM_003896.3(ST3GAL5): c.*678C> T single nucleotide variant Uncertain significance rs188807604 GRCh38 Chromosome 2, 85839466: 85839466
30 ST3GAL5 NM_003896.3(ST3GAL5): c.*678C> T single nucleotide variant Uncertain significance rs188807604 GRCh37 Chromosome 2, 86066589: 86066589
31 ST3GAL5 NM_003896.3(ST3GAL5): c.*594G> A single nucleotide variant Uncertain significance rs116456890 GRCh38 Chromosome 2, 85839550: 85839550
32 ST3GAL5 NM_003896.3(ST3GAL5): c.*594G> A single nucleotide variant Uncertain significance rs116456890 GRCh37 Chromosome 2, 86066673: 86066673
33 ST3GAL5 NM_003896.3(ST3GAL5): c.*355G> A single nucleotide variant Uncertain significance rs573408903 GRCh38 Chromosome 2, 85839789: 85839789
34 ST3GAL5 NM_003896.3(ST3GAL5): c.*355G> A single nucleotide variant Uncertain significance rs573408903 GRCh37 Chromosome 2, 86066912: 86066912
35 ST3GAL5 NM_003896.3(ST3GAL5): c.*140delA deletion Uncertain significance rs550737011 GRCh38 Chromosome 2, 85840004: 85840004
36 ST3GAL5 NM_003896.3(ST3GAL5): c.*140delA deletion Uncertain significance rs550737011 GRCh37 Chromosome 2, 86067127: 86067127
37 ST3GAL5 NM_003896.3(ST3GAL5): c.*115C> T single nucleotide variant Uncertain significance rs193077813 GRCh38 Chromosome 2, 85840029: 85840029
38 ST3GAL5 NM_003896.3(ST3GAL5): c.*115C> T single nucleotide variant Uncertain significance rs193077813 GRCh37 Chromosome 2, 86067152: 86067152
39 ST3GAL5 NM_003896.3(ST3GAL5): c.1036G> A (p.Val346Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs145738225 GRCh38 Chromosome 2, 85840365: 85840365
40 ST3GAL5 NM_003896.3(ST3GAL5): c.1036G> A (p.Val346Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs145738225 GRCh37 Chromosome 2, 86067488: 86067488
41 ST3GAL5 NM_003896.3(ST3GAL5): c.415G> T (p.Val139Leu) single nucleotide variant Uncertain significance rs377046345 GRCh38 Chromosome 2, 85848108: 85848108
42 ST3GAL5 NM_003896.3(ST3GAL5): c.415G> T (p.Val139Leu) single nucleotide variant Uncertain significance rs377046345 GRCh37 Chromosome 2, 86075231: 86075231
43 ST3GAL5 NM_003896.3(ST3GAL5): c.84A> C (p.Ala28=) single nucleotide variant Uncertain significance rs530496667 GRCh38 Chromosome 2, 85863484: 85863484
44 ST3GAL5 NM_003896.3(ST3GAL5): c.84A> C (p.Ala28=) single nucleotide variant Uncertain significance rs530496667 GRCh37 Chromosome 2, 86090607: 86090607
45 ST3GAL5 NM_003896.3(ST3GAL5): c.-91G> A single nucleotide variant Uncertain significance rs879798501 GRCh38 Chromosome 2, 85888996: 85888996
46 ST3GAL5 NM_003896.3(ST3GAL5): c.-91G> A single nucleotide variant Uncertain significance rs879798501 GRCh37 Chromosome 2, 86116119: 86116119
47 ST3GAL5 NM_003896.3(ST3GAL5): c.*607C> T single nucleotide variant Uncertain significance rs535114385 GRCh38 Chromosome 2, 85839537: 85839537
48 ST3GAL5 NM_003896.3(ST3GAL5): c.*607C> T single nucleotide variant Uncertain significance rs535114385 GRCh37 Chromosome 2, 86066660: 86066660
49 ST3GAL5 NM_003896.3(ST3GAL5): c.*455G> A single nucleotide variant Uncertain significance rs886056388 GRCh38 Chromosome 2, 85839689: 85839689
50 ST3GAL5 NM_003896.3(ST3GAL5): c.*455G> A single nucleotide variant Uncertain significance rs886056388 GRCh37 Chromosome 2, 86066812: 86066812

Expression for Salt and Pepper Developmental Regression Syndrome

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

Pathways for Salt and Pepper Developmental Regression Syndrome

Pathways related to Salt and Pepper Developmental Regression Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Glycosphingolipid biosynthesis - ganglio series hsa00604

GO Terms for Salt and Pepper Developmental Regression Syndrome

Sources for Salt and Pepper Developmental Regression Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....