DEE53
MCID: DVL077
MIFTS: 38

Developmental and Epileptic Encephalopathy 53 (DEE53)

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 53

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 53:

Name: Developmental and Epileptic Encephalopathy 53 57 12
Epileptic Encephalopathy, Early Infantile, 53 57 73 29 6
Early Infantile Epileptic Encephalopathy 53 12 15
Eiee53 57 73
Dee53 57 12
Epileptic Encephalopathy, Early Infantile, 53; Eiee53 57

Characteristics:

OMIM®:

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

Miscellaneous:
death in childhood may occur
progressive neurodegeneration
seizure onset in first days or months of life


HPO:

31
developmental and epileptic encephalopathy 53:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080464
OMIM® 57 617389
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 53

OMIM® : 57 Developmental and epileptic encephalopathy-53 (DEE53) is a severe autosomal recessive neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by Hardies et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617389) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 53, also known as epileptic encephalopathy, early infantile, 53, is related to amyotrophic lateral sclerosis 11 and yunis-varon syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 53 is SYNJ1 (Synaptojanin 1), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and superpathway of inositol phosphate compounds. Affiliated tissues include eye and liver, and related phenotypes are visual impairment and spastic tetraplegia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has material basis in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 53: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE53 inheritance is autosomal recessive.

Related Diseases for Developmental and Epileptic Encephalopathy 53

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

Diseases related to Developmental and Epileptic Encephalopathy 53 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 amyotrophic lateral sclerosis 11 10.0 SYNJ1 FIG4
2 yunis-varon syndrome 9.9 SYNJ1 FIG4
3 charcot-marie-tooth disease, type 4b1 9.9 MTMR7 FIG4
4 macrocephaly/autism syndrome 9.8 PI4K2B MTMR7
5 charcot-marie-tooth disease, type 4b2 9.8 MTMR7 FIG4
6 lowe oculocerebrorenal syndrome 9.8 SYNJ1 SACM1L
7 charcot-marie-tooth disease, type 4j 9.8 SYNJ1 SACM1L FIG4
8 myopathy, centronuclear, x-linked 9.8 SACM1L MTMR7
9 joubert syndrome 1 9.5 SYNJ1 SACM1L MTMR7 FIG4
10 ciliary dyskinesia, primary, 26 9.3 TMPRSS15 SYNJ1 MRAP LIPI CFAP298
11 parkinson disease 20, early-onset 9.2 SYNJ1 SACM1L PI4K2B MTMR7 FIG4

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 53:



Diseases related to Developmental and Epileptic Encephalopathy 53

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 53

Human phenotypes related to Developmental and Epileptic Encephalopathy 53:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 spastic tetraplegia 31 HP:0002510
3 elevated serum creatine kinase 31 HP:0003236
4 increased serum lactate 31 HP:0002151
5 hypoplasia of the corpus callosum 31 HP:0002079
6 feeding difficulties 31 HP:0011968
7 status epilepticus 31 HP:0002133
8 intellectual disability, profound 31 HP:0002187
9 progressive neurologic deterioration 31 HP:0002344
10 generalized hypotonia 31 HP:0001290
11 hypsarrhythmia 31 HP:0002521
12 epileptic encephalopathy 31 HP:0200134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

Laboratory Abnormalities:
increased serum creatine kinase (family a)
increased serum lactate (family a)
decreased activities of mitochondrial respiratory complexes iii and iv in liver and fibroblasts (family a)

Neurologic Central Nervous System:
status epilepticus
epileptic encephalopathy
seizures, refractory
spastic quadriplegia
mental retardation, profound
more
Head And Neck Eyes:
central visual impairment
poor or absent eye contact

Clinical features from OMIM®:

617389 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 53

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 53

Genetic Tests for Developmental and Epileptic Encephalopathy 53

Genetic tests related to Developmental and Epileptic Encephalopathy 53:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 53 29 SYNJ1

Anatomical Context for Developmental and Epileptic Encephalopathy 53

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 53:

40
Eye, Liver

Publications for Developmental and Epileptic Encephalopathy 53

Articles related to Developmental and Epileptic Encephalopathy 53:

# Title Authors PMID Year
1
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 6 57
27435091 2016

Variations for Developmental and Epileptic Encephalopathy 53

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 53:

6 (show top 50) (show all 346)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SYNJ1 NM_003895.3(SYNJ1):c.1938del (p.Gln647fs) Deletion Pathogenic 393359 rs1057524879 21:34038874-34038874 21:32666564-32666564
2 SYNJ1 NM_003895.3(SYNJ1):c.2663A>G (p.Tyr888Cys) SNV Pathogenic 393357 rs1057524877 21:34029346-34029346 21:32657036-32657036
3 SYNJ1 NM_003895.3(SYNJ1):c.3365-2A>G SNV Pathogenic 393360 rs1057524880 21:34018101-34018101 21:32645791-32645791
4 SYNJ1 NM_003895.3(SYNJ1):c.2528G>A (p.Trp843Ter) SNV Pathogenic 393358 rs1057524878 21:34030076-34030076 21:32657766-32657766
5 SYNJ1 NM_003895.3(SYNJ1):c.24G>A (p.Trp8Ter) SNV Pathogenic 575322 rs1569147057 21:34100328-34100328 21:32728017-32728017
6 SYNJ1 NM_203446.3(SYNJ1):c.2793_2797del (p.Arg932fs) Deletion Pathogenic 570902 rs778394516 21:34028997-34029001 21:32656687-32656691
7 SYNJ1 NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs) Deletion Pathogenic 848199 21:34018824-34018824 21:32646514-32646514
8 SYNJ1 NC_000021.9:g.(?_32727926)_(32728060_?)del Deletion Pathogenic 833242 21:34100237-34100371
9 SYNJ1 NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer) Deletion Pathogenic 950404 21:34015741-34015741 21:32643431-32643431
10 SYNJ1 NM_203446.3(SYNJ1):c.3208C>T (p.Arg1070Ter) SNV Pathogenic 978699 rs1373545506 21:34018742-34018742 21:32646432-32646432
11 SYNJ1 NM_003895.3(SYNJ1):c.1318-2A>G SNV Likely pathogenic 570738 rs1569086116 21:34053960-34053960 21:32681650-32681650
12 SYNJ1 NM_203446.3(SYNJ1):c.789+1G>A SNV Likely pathogenic 962464 21:34066537-34066537 21:32694227-32694227
13 SYNJ1 NM_203446.3(SYNJ1):c.3476A>T (p.Glu1159Val) SNV Uncertain significance 962874 21:34015722-34015722 21:32643412-32643412
14 SYNJ1 NM_203446.3(SYNJ1):c.2524A>G (p.Thr842Ala) SNV Uncertain significance 963122 21:34029368-34029368 21:32657058-32657058
15 SYNJ1 NM_203446.3(SYNJ1):c.*806G>C SNV Uncertain significance 964521 21:34003309-34003309 21:32630999-32630999
16 SYNJ1 NM_203446.3(SYNJ1):c.*763A>G SNV Uncertain significance 965663 21:34003352-34003352 21:32631042-32631042
17 SYNJ1 NM_203446.3(SYNJ1):c.1812-10T>A SNV Uncertain significance 965674 21:34038893-34038893 21:32666583-32666583
18 SYNJ1 NM_203446.3(SYNJ1):c.*485A>T SNV Uncertain significance 966535 21:34003630-34003630 21:32631320-32631320
19 SYNJ1 NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val) SNV Uncertain significance 967394 21:34059347-34059347 21:32687037-32687037
20 SYNJ1 NM_203446.3(SYNJ1):c.2760G>C (p.Gln920His) SNV Uncertain significance 968963 21:34029032-34029032 21:32656722-32656722
21 SYNJ1 NM_203446.3(SYNJ1):c.542G>A (p.Arg181His) SNV Uncertain significance 969151 21:34067530-34067530 21:32695220-32695220
22 SYNJ1 NM_203446.3(SYNJ1):c.3340G>A (p.Val1114Ile) SNV Uncertain significance 969879 21:34018007-34018007 21:32645697-32645697
23 SYNJ1 NM_203446.3(SYNJ1):c.1886C>T (p.Ala629Val) SNV Uncertain significance 970028 21:34038809-34038809 21:32666499-32666499
24 SYNJ1 NM_203446.3(SYNJ1):c.2744T>G (p.Ile915Ser) SNV Uncertain significance 970332 21:34029048-34029048 21:32656738-32656738
25 SYNJ1 NM_203446.3(SYNJ1):c.3602G>A (p.Arg1201His) SNV Uncertain significance 970653 21:34012076-34012076 21:32639766-32639766
26 SYNJ1 NM_203446.3(SYNJ1):c.1367C>A (p.Ala456Asp) SNV Uncertain significance 972193 21:34051098-34051098 21:32678788-32678788
27 SYNJ1 NM_003895.3(SYNJ1):c.3476C>T (p.Pro1159Leu) SNV Uncertain significance 978523 rs773242399 21:34017988-34017988 21:32645678-32645678
28 SYNJ1 NM_203446.3(SYNJ1):c.3145_3147dup (p.Ser1049dup) Duplication Uncertain significance 950573 21:34018802-34018803 21:32646492-32646493
29 SYNJ1 NM_203446.3(SYNJ1):c.2609T>C (p.Ile870Thr) SNV Uncertain significance 950655 21:34029183-34029183 21:32656873-32656873
30 SYNJ1 NM_203446.3(SYNJ1):c.443G>A (p.Ser148Asn) SNV Uncertain significance 951273 21:34072184-34072184 21:32699874-32699874
31 SYNJ1 NM_203446.3(SYNJ1):c.-29G>A SNV Uncertain significance 951416 21:34100263-34100263 21:32727952-32727952
32 SYNJ1 NM_203446.3(SYNJ1):c.*602G>A SNV Uncertain significance 951973 21:34003513-34003513 21:32631203-32631203
33 SYNJ1 NM_203446.3(SYNJ1):c.*709C>T SNV Uncertain significance 951974 21:34003406-34003406 21:32631096-32631096
34 SYNJ1 NM_203446.3(SYNJ1):c.-89G>T SNV Uncertain significance 952376 21:34100323-34100323 21:32728012-32728012
35 SYNJ1 NM_203446.3(SYNJ1):c.*806G>A SNV Uncertain significance 952732 21:34003309-34003309 21:32630999-32630999
36 SYNJ1 NM_203446.3(SYNJ1):c.1846C>A (p.Gln616Lys) SNV Uncertain significance 952808 21:34038849-34038849 21:32666539-32666539
37 SYNJ1 NM_203446.3(SYNJ1):c.*704C>G SNV Uncertain significance 953612 21:34003411-34003411 21:32631101-32631101
38 SYNJ1 NM_203446.3(SYNJ1):c.-63G>A SNV Uncertain significance 954119 21:34100297-34100297 21:32727986-32727986
39 SYNJ1 NM_203446.3(SYNJ1):c.1046G>T (p.Ser349Ile) SNV Uncertain significance 954122 21:34058130-34058130 21:32685820-32685820
40 SYNJ1 NM_203446.3(SYNJ1):c.*100G>T SNV Uncertain significance 954583 21:34004015-34004015 21:32631705-32631705
41 SYNJ1 NM_203446.3(SYNJ1):c.*719CT[1] Microsatellite Uncertain significance 955394 21:34003393-34003394 21:32631083-32631084
42 SYNJ1 NM_203446.3(SYNJ1):c.*613A>C SNV Uncertain significance 956367 21:34003502-34003502 21:32631192-32631192
43 SYNJ1 NM_203446.3(SYNJ1):c.1042C>A (p.His348Asn) SNV Uncertain significance 956460 21:34058134-34058134 21:32685824-32685824
44 SYNJ1 NM_203446.3(SYNJ1):c.550T>A (p.Cys184Ser) SNV Uncertain significance 956704 21:34067522-34067522 21:32695212-32695212
45 SYNJ1 NM_203446.3(SYNJ1):c.-75G>A SNV Uncertain significance 958535 21:34100309-34100309 21:32727998-32727998
46 SYNJ1 NM_203446.3(SYNJ1):c.35A>G (p.Lys12Arg) SNV Uncertain significance 959287 21:34099172-34099172 21:32726861-32726861
47 SYNJ1 NM_203446.3(SYNJ1):c.2902T>G (p.Leu968Val) SNV Uncertain significance 959786 21:34022629-34022629 21:32650319-32650319
48 SYNJ1 NM_203446.3(SYNJ1):c.841G>C (p.Ala281Pro) SNV Uncertain significance 961375 21:34060626-34060626 21:32688316-32688316
49 SYNJ1 NM_203446.3(SYNJ1):c.-56G>T SNV Uncertain significance 961827 21:34100290-34100290 21:32727979-32727979
50 SYNJ1 NM_203446.3(SYNJ1):c.*412C>G SNV Uncertain significance 961830 21:34003703-34003703 21:32631393-32631393

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 53:

73
# Symbol AA change Variation ID SNP ID
1 SYNJ1 p.Tyr849Cys VAR_078804

Expression for Developmental and Epileptic Encephalopathy 53

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 53.

Pathways for Developmental and Epileptic Encephalopathy 53

Pathways related to Developmental and Epileptic Encephalopathy 53 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 SYNJ1 SACM1L PI4K2B MTMR7 FIG4
2
Show member pathways
11.92 SYNJ1 SACM1L PI4K2B MTMR7 FIG4
3
Show member pathways
11.28 SYNJ1 SACM1L PI4K2B MTMR7 FIG4
4 10.56 SYNJ1 SACM1L

GO Terms for Developmental and Epileptic Encephalopathy 53

Biological processes related to Developmental and Epileptic Encephalopathy 53 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol metabolic process GO:0046488 9.26 SYNJ1 FIG4
2 phosphatidylinositol dephosphorylation GO:0046856 9.26 SYNJ1 SACM1L MTMR7 FIG4
3 inositol phosphate dephosphorylation GO:0046855 9.16 SYNJ1 MTMR7
4 phosphatidylinositol biosynthetic process GO:0006661 9.02 SYNJ1 SACM1L PI4K2B MTMR7 FIG4

Molecular functions related to Developmental and Epileptic Encephalopathy 53 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.8 TMPRSS15 SYNJ1 SACM1L MTMR7 LIPI FIG4
2 phosphoric ester hydrolase activity GO:0042578 9.33 SYNJ1 SACM1L FIG4
3 phosphatidylinositol bisphosphate phosphatase activity GO:0034593 9.26 SACM1L FIG4
4 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 9.13 SYNJ1 SACM1L FIG4
5 phosphatidylinositol-3-phosphatase activity GO:0004438 8.92 SYNJ1 SACM1L MTMR7 FIG4

Sources for Developmental and Epileptic Encephalopathy 53

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
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