EIEE53
MCID: EPL195
MIFTS: 28

Epileptic Encephalopathy, Early Infantile, 53 (EIEE53)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 53

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 53:

Name: Epileptic Encephalopathy, Early Infantile, 53 57 74 29 6
Eiee53 57 74
Early Infantile Epileptic Encephalopathy 53 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epileptic encephalopathy, early infantile, 53:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080464
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 53

OMIM : 57 Early infantile epileptic encephalopathy-53 is a severe 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 EIEE, see EIEE1 (308350). (617389)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 53, also known as eiee53, is related to parkinson disease 20, early-onset. An important gene associated with Epileptic Encephalopathy, Early Infantile, 53 is SYNJ1 (Synaptojanin 1). Affiliated tissues include liver and eye, and related phenotypes are visual impairment and spastic tetraplegia

Disease Ontology : 12 An early infantile 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 : 74 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 Epileptic Encephalopathy, Early Infantile, 53

Diseases in the Early Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 30
Epileptic Encephalopathy, Early Infantile, 31 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 33 Epileptic Encephalopathy, Early Infantile, 50
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 37 Epileptic Encephalopathy, Early Infantile, 38
Epileptic Encephalopathy, Early Infantile, 40 Epileptic Encephalopathy, Early Infantile, 41
Epileptic Encephalopathy, Early Infantile, 42 Epileptic Encephalopathy, Early Infantile, 43
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 45
Epileptic Encephalopathy, Early Infantile, 46 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 48 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 52
Epileptic Encephalopathy, Early Infantile, 53 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 56
Epileptic Encephalopathy, Early Infantile, 57 Epileptic Encephalopathy, Early Infantile, 58
Epileptic Encephalopathy, Early Infantile, 59 Epileptic Encephalopathy, Early Infantile, 60
Epileptic Encephalopathy, Early Infantile, 61 Epileptic Encephalopathy, Early Infantile, 62
Epileptic Encephalopathy, Early Infantile, 63 Epileptic Encephalopathy, Early Infantile, 64
Epileptic Encephalopathy, Early Infantile, 65 Epileptic Encephalopathy, Early Infantile, 66
Epileptic Encephalopathy, Early Infantile, 67 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Diseases related to Epileptic Encephalopathy, Early Infantile, 53 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parkinson disease 20, early-onset 9.2 SYNJ1 PAXBP1-AS1

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 53

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 53:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 visual impairment 32 HP:0000505
2 spastic tetraplegia 32 HP:0002510
3 generalized hypotonia 32 HP:0001290
4 feeding difficulties 32 HP:0011968
5 increased serum lactate 32 HP:0002151
6 epileptic encephalopathy 32 HP:0200134
7 status epilepticus 32 HP:0002133
8 hypsarrhythmia 32 HP:0002521
9 intellectual disability, profound 32 HP:0002187
10 hypoplasia of the corpus callosum 32 HP:0002079
11 progressive neurologic deterioration 32 HP:0002344
12 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
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:
epileptic encephalopathy
status epilepticus
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

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 53

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 53

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 53

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 53:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 53

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 53:

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 53

Articles related to Epileptic Encephalopathy, Early Infantile, 53:

# Title Authors PMID Year
1
Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. 8 71
27435091 2016
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 53

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 53:

6 (show top 50) (show all 179)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SYNJ1 NM_203446.2(SYNJ1): c.2663A> G (p.Tyr888Cys) single nucleotide variant Pathogenic rs1057524877 21:34029346-34029346 21:32657036-32657036
2 SYNJ1 NM_203446.2(SYNJ1): c.2528G> A (p.Trp843Ter) single nucleotide variant Pathogenic rs1057524878 21:34030076-34030076 21:32657766-32657766
3 SYNJ1 NM_203446.2(SYNJ1): c.1938del (p.Gln647fs) deletion Pathogenic rs1057524879 21:34038874-34038874 21:32666564-32666564
4 SYNJ1 NM_203446.2(SYNJ1): c.3365-2A> G single nucleotide variant Pathogenic rs1057524880 21:34018101-34018101 21:32645791-32645791
5 SYNJ1 NM_203446.2(SYNJ1): c.24G> A (p.Trp8Ter) single nucleotide variant Pathogenic 21:34100328-34100328 21:32728017-32728017
6 SYNJ1 NM_003895.3(SYNJ1): c.2908_2912delATAAG (p.Arg971Cysfs) deletion Pathogenic 21:34028997-34029001 21:32656687-32656691
7 SYNJ1 NM_203446.2(SYNJ1): c.1318-2A> G single nucleotide variant Likely pathogenic 21:34053960-34053960 21:32681650-32681650
8 SYNJ1 NM_203446.2(SYNJ1): c.3707C> T (p.Thr1236Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145937537 21:34012088-34012088 21:32639778-32639778
9 SYNJ1 NM_203446.2(SYNJ1): c.2023G> A (p.Val675Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs373820739 21:34038789-34038789 21:32666479-32666479
10 SYNJ1 NM_203446.2(SYNJ1): c.1598G> A (p.Arg533Gln) single nucleotide variant Uncertain significance rs781599934 21:34050984-34050984 21:32678674-32678674
11 SYNJ1 NM_203446.2(SYNJ1): c.959C> G (p.Ala320Gly) single nucleotide variant Uncertain significance rs1046699971 21:34060625-34060625 21:32688315-32688315
12 SYNJ1 NM_203446.2(SYNJ1): c.925C> T (p.Arg309Cys) single nucleotide variant Uncertain significance rs547450707 21:34060659-34060659 21:32688349-32688349
13 SYNJ1 NM_203446.2(SYNJ1): c.3806C> T (p.Thr1269Met) single nucleotide variant Uncertain significance rs752805765 21:34011989-34011989 21:32639679-32639679
14 SYNJ1 NM_203446.2(SYNJ1): c.3755G> A (p.Arg1252Gln) single nucleotide variant Uncertain significance rs144048853 21:34012040-34012040 21:32639730-32639730
15 SYNJ1 NM_203446.2(SYNJ1): c.3808T> C (p.Ser1270Pro) single nucleotide variant Uncertain significance rs767695759 21:34011987-34011987 21:32639677-32639677
16 SYNJ1 NM_203446.2(SYNJ1): c.2991+5G> A single nucleotide variant Uncertain significance rs371765751 21:34025593-34025593 21:32653283-32653283
17 SYNJ1 NM_203446.2(SYNJ1): c.2721A> G (p.Ile907Met) single nucleotide variant Uncertain significance rs377165480 21:34029188-34029188 21:32656878-32656878
18 SYNJ1 NM_203446.2(SYNJ1): c.3954T> A (p.Asn1318Lys) single nucleotide variant Uncertain significance rs1555888329 21:34011296-34011296 21:32638986-32638986
19 SYNJ1 NM_203446.2(SYNJ1): c.3928A> G (p.Met1310Val) single nucleotide variant Uncertain significance rs751069566 21:34011322-34011322 21:32639012-32639012
20 SYNJ1 NM_203446.2(SYNJ1): c.4025A> G (p.Gln1342Arg) single nucleotide variant Uncertain significance rs546986773 21:34011225-34011225 21:32638915-32638915
21 SYNJ1 NM_203446.2(SYNJ1): c.*188T> C single nucleotide variant Uncertain significance rs866258846 21:34003927-34003927 21:32631617-32631617
22 SYNJ1 NM_203446.2(SYNJ1): c.2909T> C (p.Ile970Thr) single nucleotide variant Uncertain significance rs932390799 21:34029000-34029000 21:32656690-32656690
23 SYNJ1 NM_203446.2(SYNJ1): c.2903T> C (p.Ile968Thr) single nucleotide variant Uncertain significance rs755258923 21:34029006-34029006 21:32656696-32656696
24 SYNJ1 NM_203446.2(SYNJ1): c.2579-10C> G single nucleotide variant Uncertain significance rs775703634 21:34029440-34029440 21:32657130-32657130
25 SYNJ1 NM_203446.2(SYNJ1): c.3527C> T (p.Pro1176Leu) single nucleotide variant Uncertain significance rs569046864 21:34017298-34017298 21:32644988-32644988
26 SYNJ1 NM_203446.2(SYNJ1): c.51_62del (p.15_18GGCG[1]) deletion Uncertain significance rs1035093736 21:34100290-34100301 21:32727979-32727990
27 SYNJ1 NM_203446.2(SYNJ1): c.3641G> C (p.Ser1214Thr) single nucleotide variant Uncertain significance rs994115947 21:34014270-34014270 21:32641960-32641960
28 SYNJ1 NM_203446.2(SYNJ1): c.2237T> C (p.Ile746Thr) single nucleotide variant Uncertain significance rs147929290 21:34038278-34038278 21:32665968-32665968
29 SYNJ1 NM_203446.2(SYNJ1): c.1949G> T (p.Trp650Leu) single nucleotide variant Uncertain significance rs1481650772 21:34038863-34038863 21:32666553-32666553
30 SYNJ1 NM_203446.2(SYNJ1): c.3421C> T (p.Pro1141Ser) single nucleotide variant Uncertain significance rs1368672974 21:34018043-34018043 21:32645733-32645733
31 SYNJ1 NM_203446.2(SYNJ1): c.1583T> C (p.Leu528Ser) single nucleotide variant Uncertain significance rs1238065971 21:34050999-34050999 21:32678689-32678689
32 SYNJ1 NM_203446.2(SYNJ1): c.1423A> G (p.Ile475Val) single nucleotide variant Uncertain significance rs763870801 21:34053853-34053853 21:32681543-32681543
33 SYNJ1 NM_203446.2(SYNJ1): c.3326G> A (p.Arg1109Gln) single nucleotide variant Uncertain significance rs141107054 21:34018741-34018741 21:32646431-32646431
34 SYNJ1 NM_203446.2(SYNJ1): c.3296C> G (p.Pro1099Arg) single nucleotide variant Uncertain significance rs1430500307 21:34018771-34018771 21:32646461-32646461
35 SYNJ1 NM_203446.2(SYNJ1): c.2714T> C (p.Ile905Thr) single nucleotide variant Uncertain significance rs114053718 21:34029195-34029195 21:32656885-32656885
36 SYNJ1 NM_203446.2(SYNJ1): c.3548G> A (p.Gly1183Asp) single nucleotide variant Uncertain significance rs142964720 21:34015767-34015767 21:32643457-32643457
37 SYNJ1 NM_203446.2(SYNJ1): c.*173C> T single nucleotide variant Uncertain significance rs1341548536 21:34003942-34003942 21:32631632-32631632
38 SYNJ1 NM_203446.2(SYNJ1): c.3839T> C (p.Leu1280Pro) single nucleotide variant Uncertain significance rs548516848 21:34011411-34011411 21:32639101-32639101
39 SYNJ1 NM_203446.2(SYNJ1): c.3705G> A (p.Pro1235=) single nucleotide variant Uncertain significance rs1160685381 21:34014206-34014206 21:32641896-32641896
40 SYNJ1 NM_203446.2(SYNJ1): c.2999A> G (p.Asn1000Ser) single nucleotide variant Uncertain significance rs754401787 21:34022649-34022649 21:32650339-32650339
41 SYNJ1 NM_203446.2(SYNJ1): c.1672A> G (p.Ser558Gly) single nucleotide variant Uncertain significance rs148901211 21:34045821-34045821 21:32673511-32673511
42 SYNJ1 NM_203446.2(SYNJ1): c.*574T> A single nucleotide variant Uncertain significance rs138122167 21:34003541-34003541 21:32631231-32631231
43 SYNJ1 NM_203446.2(SYNJ1): c.3407A> G (p.Lys1136Arg) single nucleotide variant Uncertain significance rs946267411 21:34018057-34018057 21:32645747-32645747
44 SYNJ1 NM_203446.2(SYNJ1): c.2050_2051delinsAG (p.Gln684Arg) indel Uncertain significance rs1555896707 21:34038761-34038762 21:32666451-32666452
45 SYNJ1 NM_203446.2(SYNJ1): c.587G> C (p.Arg196Thr) single nucleotide variant Uncertain significance 21:34072157-34072157 21:32699847-32699847
46 SYNJ1 NC_000021.8: g.(?_33974153)_(34074377_?)dup duplication Uncertain significance 21:33974153-34074377 21:32601843-32702067
47 SYNJ1 NM_203446.2(SYNJ1): c.3999T> G (p.His1333Gln) single nucleotide variant Uncertain significance 21:34011251-34011251 21:32638941-32638941
48 SYNJ1 NM_203446.2(SYNJ1): c.3914C> G (p.Pro1305Arg) single nucleotide variant Uncertain significance 21:34011336-34011336 21:32639026-32639026
49 SYNJ1 NM_203446.2(SYNJ1): c.3437G> A (p.Arg1146Gln) single nucleotide variant Uncertain significance 21:34018027-34018027 21:32645717-32645717
50 SYNJ1 NM_203446.2(SYNJ1): c.3214T> C (p.Ser1072Pro) single nucleotide variant Uncertain significance 21:34018853-34018853 21:32646543-32646543

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 53:

74
# Symbol AA change Variation ID SNP ID
1 SYNJ1 p.Tyr849Cys VAR_078804

Expression for Epileptic Encephalopathy, Early Infantile, 53

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 53.

Pathways for Epileptic Encephalopathy, Early Infantile, 53

GO Terms for Epileptic Encephalopathy, Early Infantile, 53

Sources for Epileptic Encephalopathy, Early Infantile, 53

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