MCID: EPL195
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 53

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal 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 75 29 6
Eiee53 57 75

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:

OMIM 57 617389
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 generalized hypotonia and hypoplasia of the corpus callosum

UniProtKB/Swiss-Prot : 75 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 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

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 9.0 PAXBP1-AS1 SYNJ1

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 53

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


Clinical features from OMIM:

617389

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

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

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

Variations for Epileptic Encephalopathy, Early Infantile, 53

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

75
# Symbol AA change Variation ID SNP ID
1 SYNJ1 p.Tyr849Cys VAR_078804

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

6
(show top 50) (show all 195)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNJ1 NM_203446.2(SYNJ1): c.2663A> G (p.Tyr888Cys) single nucleotide variant Pathogenic rs1057524877 GRCh37 Chromosome 21, 34029346: 34029346
2 SYNJ1 NM_203446.2(SYNJ1): c.2663A> G (p.Tyr888Cys) single nucleotide variant Pathogenic rs1057524877 GRCh38 Chromosome 21, 32657036: 32657036
3 SYNJ1 NM_203446.2(SYNJ1): c.2528G> A (p.Trp843Ter) single nucleotide variant Pathogenic rs1057524878 GRCh37 Chromosome 21, 34030076: 34030076
4 SYNJ1 NM_203446.2(SYNJ1): c.2528G> A (p.Trp843Ter) single nucleotide variant Pathogenic rs1057524878 GRCh38 Chromosome 21, 32657766: 32657766
5 SYNJ1 NM_203446.2(SYNJ1): c.1938delT (p.Gln647Argfs) deletion Pathogenic rs1057524879 GRCh38 Chromosome 21, 32666564: 32666564
6 SYNJ1 NM_203446.2(SYNJ1): c.1938delT (p.Gln647Argfs) deletion Pathogenic rs1057524879 GRCh37 Chromosome 21, 34038874: 34038874
7 SYNJ1 NM_203446.2(SYNJ1): c.3365-2A> G single nucleotide variant Pathogenic rs1057524880 GRCh37 Chromosome 21, 34018101: 34018101
8 SYNJ1 NM_203446.2(SYNJ1): c.3365-2A> G single nucleotide variant Pathogenic rs1057524880 GRCh38 Chromosome 21, 32645791: 32645791
9 SYNJ1 NM_003895.3(SYNJ1): c.160C> T (p.Pro54Ser) single nucleotide variant Benign/Likely benign rs61755328 GRCh37 Chromosome 21, 34099164: 34099164
10 SYNJ1 NM_003895.3(SYNJ1): c.160C> T (p.Pro54Ser) single nucleotide variant Benign/Likely benign rs61755328 GRCh38 Chromosome 21, 32726853: 32726853
11 SYNJ1 NC_000021.8: g.(?_33974153)_(34100371_?)dup duplication Uncertain significance GRCh37 Chromosome 21, 33974153: 34100371
12 SYNJ1 NM_003895.3(SYNJ1): c.4790C> T (p.Thr1597Met) single nucleotide variant Likely benign rs111516740 GRCh38 Chromosome 21, 32631044: 32631044
13 SYNJ1 NM_003895.3(SYNJ1): c.4790C> T (p.Thr1597Met) single nucleotide variant Likely benign rs111516740 GRCh37 Chromosome 21, 34003354: 34003354
14 SYNJ1 NM_003895.3(SYNJ1): c.4581G> A (p.Glu1527=) single nucleotide variant Likely benign rs146425050 GRCh38 Chromosome 21, 32631253: 32631253
15 SYNJ1 NM_003895.3(SYNJ1): c.4581G> A (p.Glu1527=) single nucleotide variant Likely benign rs146425050 GRCh37 Chromosome 21, 34003563: 34003563
16 SYNJ1 NM_003895.3(SYNJ1): c.3879C> T (p.Pro1293=) single nucleotide variant Likely benign rs201117151 GRCh38 Chromosome 21, 32639061: 32639061
17 SYNJ1 NM_003895.3(SYNJ1): c.3879C> T (p.Pro1293=) single nucleotide variant Likely benign rs201117151 GRCh37 Chromosome 21, 34011371: 34011371
18 SYNJ1 NM_003895.3(SYNJ1): c.3707C> T (p.Thr1236Met) single nucleotide variant Likely benign rs145937537 GRCh38 Chromosome 21, 32639778: 32639778
19 SYNJ1 NM_003895.3(SYNJ1): c.3707C> T (p.Thr1236Met) single nucleotide variant Likely benign rs145937537 GRCh37 Chromosome 21, 34012088: 34012088
20 SYNJ1 NM_003895.3(SYNJ1): c.3548G> A (p.Gly1183Asp) single nucleotide variant Uncertain significance rs142964720 GRCh38 Chromosome 21, 32643457: 32643457
21 SYNJ1 NM_003895.3(SYNJ1): c.3548G> A (p.Gly1183Asp) single nucleotide variant Uncertain significance rs142964720 GRCh37 Chromosome 21, 34015767: 34015767
22 SYNJ1 NM_003895.3(SYNJ1): c.2703C> T (p.Val901=) single nucleotide variant Likely benign rs771973400 GRCh37 Chromosome 21, 34029206: 34029206
23 SYNJ1 NM_003895.3(SYNJ1): c.2703C> T (p.Val901=) single nucleotide variant Likely benign rs771973400 GRCh38 Chromosome 21, 32656896: 32656896
24 SYNJ1 NM_003895.3(SYNJ1): c.2463G> A (p.Pro821=) single nucleotide variant Likely benign rs61753644 GRCh37 Chromosome 21, 34030141: 34030141
25 SYNJ1 NM_003895.3(SYNJ1): c.2463G> A (p.Pro821=) single nucleotide variant Likely benign rs61753644 GRCh38 Chromosome 21, 32657831: 32657831
26 SYNJ1 NM_003895.3(SYNJ1): c.1236-8G> T single nucleotide variant Benign rs138882423 GRCh37 Chromosome 21, 34056437: 34056437
27 SYNJ1 NM_003895.3(SYNJ1): c.1236-8G> T single nucleotide variant Benign rs138882423 GRCh38 Chromosome 21, 32684127: 32684127
28 SYNJ1 NM_003895.3(SYNJ1): c.1119C> T (p.Asp373=) single nucleotide variant Likely benign rs763601982 GRCh37 Chromosome 21, 34058174: 34058174
29 SYNJ1 NM_003895.3(SYNJ1): c.1119C> T (p.Asp373=) single nucleotide variant Likely benign rs763601982 GRCh38 Chromosome 21, 32685864: 32685864
30 SYNJ1 NM_003895.3(SYNJ1): c.960T> C (p.Ala320=) single nucleotide variant Likely benign rs372016074 GRCh37 Chromosome 21, 34060624: 34060624
31 SYNJ1 NM_003895.3(SYNJ1): c.960T> C (p.Ala320=) single nucleotide variant Likely benign rs372016074 GRCh38 Chromosome 21, 32688314: 32688314
32 SYNJ1 NM_003895.3(SYNJ1): c.4263G> T (p.Arg1421=) single nucleotide variant Likely benign rs777299829 GRCh38 Chromosome 21, 32631571: 32631571
33 SYNJ1 NM_003895.3(SYNJ1): c.4263G> T (p.Arg1421=) single nucleotide variant Likely benign rs777299829 GRCh37 Chromosome 21, 34003881: 34003881
34 SYNJ1 NM_003895.3(SYNJ1): c.4202C> T (p.Thr1401Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 32631632: 32631632
35 SYNJ1 NM_003895.3(SYNJ1): c.4202C> T (p.Thr1401Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 34003942: 34003942
36 SYNJ1 NM_003895.3(SYNJ1): c.3839T> C (p.Leu1280Pro) single nucleotide variant Uncertain significance rs548516848 GRCh38 Chromosome 21, 32639101: 32639101
37 SYNJ1 NM_003895.3(SYNJ1): c.3839T> C (p.Leu1280Pro) single nucleotide variant Uncertain significance rs548516848 GRCh37 Chromosome 21, 34011411: 34011411
38 SYNJ1 NM_003895.3(SYNJ1): c.3753G> A (p.Ala1251=) single nucleotide variant Likely benign rs576444776 GRCh38 Chromosome 21, 32639732: 32639732
39 SYNJ1 NM_003895.3(SYNJ1): c.3753G> A (p.Ala1251=) single nucleotide variant Likely benign rs576444776 GRCh37 Chromosome 21, 34012042: 34012042
40 SYNJ1 NM_003895.3(SYNJ1): c.3705G> A (p.Pro1235=) single nucleotide variant Uncertain significance GRCh38 Chromosome 21, 32641896: 32641896
41 SYNJ1 NM_003895.3(SYNJ1): c.3705G> A (p.Pro1235=) single nucleotide variant Uncertain significance GRCh37 Chromosome 21, 34014206: 34014206
42 SYNJ1 NM_003895.3(SYNJ1): c.3322A> G (p.Ser1108Gly) single nucleotide variant Likely benign rs149817769 GRCh38 Chromosome 21, 32646435: 32646435
43 SYNJ1 NM_003895.3(SYNJ1): c.3322A> G (p.Ser1108Gly) single nucleotide variant Likely benign rs149817769 GRCh37 Chromosome 21, 34018745: 34018745
44 SYNJ1 NM_003895.3(SYNJ1): c.2999A> G (p.Asn1000Ser) single nucleotide variant Uncertain significance rs754401787 GRCh37 Chromosome 21, 34022649: 34022649
45 SYNJ1 NM_003895.3(SYNJ1): c.2999A> G (p.Asn1000Ser) single nucleotide variant Uncertain significance rs754401787 GRCh38 Chromosome 21, 32650339: 32650339
46 SYNJ1 NM_003895.3(SYNJ1): c.1672A> G (p.Ser558Gly) single nucleotide variant Uncertain significance rs148901211 GRCh37 Chromosome 21, 34045821: 34045821
47 SYNJ1 NM_003895.3(SYNJ1): c.1672A> G (p.Ser558Gly) single nucleotide variant Uncertain significance rs148901211 GRCh38 Chromosome 21, 32673511: 32673511
48 SYNJ1 NM_003895.3(SYNJ1): c.1663G> A (p.Val555Ile) single nucleotide variant Benign rs113708828 GRCh37 Chromosome 21, 34045830: 34045830
49 SYNJ1 NM_003895.3(SYNJ1): c.1663G> A (p.Val555Ile) single nucleotide variant Benign rs113708828 GRCh38 Chromosome 21, 32673520: 32673520
50 SYNJ1 NM_003895.3(SYNJ1): c.1026A> G (p.Gly342=) single nucleotide variant Likely benign rs145522240 GRCh37 Chromosome 21, 34059327: 34059327

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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