DEE15
MCID: DVL043
MIFTS: 33

Developmental and Epileptic Encephalopathy 15 (DEE15)

Categories: Cancer diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Developmental and Epileptic Encephalopathy 15

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 15:

Name: Developmental and Epileptic Encephalopathy 15 57 12
Early Infantile Epileptic Encephalopathy 15 12 29 6 15
Epileptic Encephalopathy, Early Infantile, 15 57 73 13
Eiee15 57 73
Dee15 57 12
Epileptic Encephalopathy, Early Infantile, 15; Eiee15 57
Encephalopathy, Epileptic, Early Infantile, Type 15 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first months of life (3 to 7 months)
seizures are often refractory


HPO:

31
developmental and epileptic encephalopathy 15:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080414
OMIM® 57 615006
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 15

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 15: A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome.

MalaCards based summary : Developmental and Epileptic Encephalopathy 15, is also known as early infantile epileptic encephalopathy 15. An important gene associated with Developmental and Epileptic Encephalopathy 15 is ST3GAL3 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. Affiliated tissues include eye, and related phenotypes are global developmental delay and irritability

Disease Ontology : 12 A developmental and epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.

More information from OMIM: 615006 PS308350

Related Diseases for Developmental and Epileptic Encephalopathy 15

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 15

Human phenotypes related to Developmental and Epileptic Encephalopathy 15:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 irritability 31 HP:0000737
3 poor eye contact 31 HP:0000817
4 intellectual disability, profound 31 HP:0002187
5 generalized hypotonia 31 HP:0001290
6 inability to walk 31 HP:0002540
7 hypsarrhythmia 31 HP:0002521
8 epileptic encephalopathy 31 HP:0200134
9 primitive reflex 31 HP:0002476
10 hypotonia 31 HP:0001252
11 epileptic spasm 31 HP:0011097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Behavioral Psychiatric Manifestations:
irritability

Neurologic Central Nervous System:
poor eye contact
hypsarrhythmia
hypotonia
delayed psychomotor development
mental retardation, profound
more

Clinical features from OMIM®:

615006 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 15

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 15

Genetic Tests for Developmental and Epileptic Encephalopathy 15

Genetic tests related to Developmental and Epileptic Encephalopathy 15:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 15 29 ST3GAL3

Anatomical Context for Developmental and Epileptic Encephalopathy 15

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 15:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 15

Articles related to Developmental and Epileptic Encephalopathy 15:

# Title Authors PMID Year
1
A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9. 6 57
31584066 2020
2
West syndrome caused by ST3Gal-III deficiency. 57 6
23252400 2013
3
A patient-specific induced pluripotent stem cell model for West syndrome caused by ST3GAL3 deficiency. 6
30089820 2018
4
ST3GAL3 mutations impair the development of higher cognitive functions. 57
21907012 2011

Variations for Developmental and Epileptic Encephalopathy 15

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 15:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ST3GAL3 NM_006279.5(ST3GAL3):c.958G>C (p.Ala320Pro) SNV Pathogenic 39592 rs1557563410 1:44386520-44386520 1:43920848-43920848
2 ST3GAL3 NM_006279.5(ST3GAL3):c.660C>A (p.Tyr220Ter) SNV Pathogenic 995834 1:44365315-44365315 1:43899643-43899643
3 ST3GAL3 NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln) SNV Uncertain significance 198193 rs201287443 1:44360114-44360114 1:43894442-43894442
4 ST3GAL3 NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr) SNV Uncertain significance 408898 rs201834329 1:44363909-44363909 1:43898237-43898237
5 ST3GAL3 NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val) SNV Uncertain significance 436877 rs141947405 1:44395835-44395835 1:43930163-43930163
6 ST3GAL3 NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln) SNV Uncertain significance 130377 rs553120567 1:44395844-44395844 1:43930172-43930172

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 15:

73
# Symbol AA change Variation ID SNP ID
1 ST3GAL3 p.Ala320Pro VAR_069319

Expression for Developmental and Epileptic Encephalopathy 15

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 15.

Pathways for Developmental and Epileptic Encephalopathy 15

Pathways related to Developmental and Epileptic Encephalopathy 15 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.59 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2 NEU4
2
Show member pathways
13.16 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2 NEU4
3
Show member pathways
12.44 ST3GAL4 ST3GAL3 ST3GAL2
4
Show member pathways
12.32 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2 NEU4
5
Show member pathways
11.87 ST3GAL4 ST3GAL3 ST3GAL2
6
Show member pathways
11.62 ST3GAL4 ST3GAL3
7
Show member pathways
11.62 ST3GAL4 ST3GAL3 ST3GAL2
8
Show member pathways
11.51 ST3GAL4 ST3GAL3 ST3GAL2
9
Show member pathways
11.39 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2 NEU4
10
Show member pathways
11.28 ST3GAL4 ST3GAL3 ST3GAL2
11
Show member pathways
11.21 ST8SIA2 ST3GAL4
12
Show member pathways
10.92 ST3GAL5 ST3GAL2
13 10.89 ST3GAL4 ST3GAL3
14 10.27 ST8SIA2 ST3GAL3

GO Terms for Developmental and Epileptic Encephalopathy 15

Cellular components related to Developmental and Epileptic Encephalopathy 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.55 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2
2 Golgi cisterna membrane GO:0032580 9.13 ST3GAL4 ST3GAL3 ST3GAL2
3 Golgi membrane GO:0000139 9.02 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2

Biological processes related to Developmental and Epileptic Encephalopathy 15 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.7 ST3GAL4 ST3GAL2 NEU4
2 carbohydrate metabolic process GO:0005975 9.69 ST8SIA2 ST3GAL5 NEU4
3 oligosaccharide biosynthetic process GO:0009312 9.49 ST3GAL4 ST3GAL2
4 glycoprotein biosynthetic process GO:0009101 9.48 ST3GAL4 ST3GAL2
5 lipid glycosylation GO:0030259 9.46 ST3GAL4 ST3GAL2
6 ganglioside biosynthetic process GO:0001574 9.43 ST8SIA2 ST3GAL5
7 O-glycan processing GO:0016266 9.43 ST3GAL4 ST3GAL3 ST3GAL2
8 glycolipid biosynthetic process GO:0009247 9.4 ST3GAL4 ST3GAL2
9 protein sialylation GO:1990743 9.37 ST3GAL4 ST3GAL2
10 protein glycosylation GO:0006486 9.35 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2
11 keratan sulfate biosynthetic process GO:0018146 9.33 ST3GAL4 ST3GAL3 ST3GAL2
12 ganglioside biosynthetic process via lactosylceramide GO:0010706 9.32 ST3GAL3 ST3GAL2
13 sialylation GO:0097503 9.02 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2

Molecular functions related to Developmental and Epileptic Encephalopathy 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2
2 transferase activity, transferring glycosyl groups GO:0016757 9.55 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2
3 monosialoganglioside sialyltransferase activity GO:0047288 9.37 ST3GAL4 ST3GAL2
4 N-acetyllactosaminide alpha-2,3-sialyltransferase activity GO:0008118 9.32 ST3GAL4 ST3GAL3
5 neolactotetraosylceramide alpha-2,3-sialyltransferase activity GO:0004513 9.26 ST3GAL5 ST3GAL4
6 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity GO:0003836 9.13 ST3GAL4 ST3GAL3 ST3GAL2
7 sialyltransferase activity GO:0008373 9.02 ST8SIA2 ST3GAL5 ST3GAL4 ST3GAL3 ST3GAL2

Sources for Developmental and Epileptic Encephalopathy 15

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....