EIEE53
MCID: EPL195
MIFTS: 23

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 58 76 30 6
Eiee53 58 76
Early Infantile Epileptic Encephalopathy 53 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
epileptic encephalopathy, early infantile, 53:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 53

OMIM : 58 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 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 : 76 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

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 9.5 PAXBP1-AS1 SYNJ1

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 53

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

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 visual impairment 33 HP:0000505
2 spastic tetraplegia 33 HP:0002510
3 feeding difficulties 33 HP:0011968
4 increased serum lactate 33 HP:0002151
5 status epilepticus 33 HP:0002133
6 intellectual disability, profound 33 HP:0002187
7 generalized hypotonia 33 HP:0001290
8 hypoplasia of the corpus callosum 33 HP:0002079
9 hypsarrhythmia 33 HP:0002521
10 epileptic encephalopathy 33 HP:0200134
11 progressive neurologic deterioration 33 HP:0002344
12 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SYNJ1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 53

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

42
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:

76
# 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 274)
# 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 NM_003895.3(SYNJ1): c.4790C> T (p.Thr1597Met) single nucleotide variant Likely benign rs111516740 GRCh38 Chromosome 21, 32631044: 32631044
12 SYNJ1 NM_003895.3(SYNJ1): c.4790C> T (p.Thr1597Met) single nucleotide variant Likely benign rs111516740 GRCh37 Chromosome 21, 34003354: 34003354
13 SYNJ1 NM_003895.3(SYNJ1): c.4581G> A (p.Glu1527=) single nucleotide variant Likely benign rs146425050 GRCh37 Chromosome 21, 34003563: 34003563
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.3879C> T (p.Pro1293=) single nucleotide variant Likely benign rs201117151 GRCh37 Chromosome 21, 34011371: 34011371
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.3707C> T (p.Thr1236Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145937537 GRCh38 Chromosome 21, 32639778: 32639778
18 SYNJ1 NM_003895.3(SYNJ1): c.3707C> T (p.Thr1236Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145937537 GRCh37 Chromosome 21, 34012088: 34012088
19 SYNJ1 NM_003895.3(SYNJ1): c.3548G> A (p.Gly1183Asp) single nucleotide variant Uncertain significance rs142964720 GRCh38 Chromosome 21, 32643457: 32643457
20 SYNJ1 NM_003895.3(SYNJ1): c.3548G> A (p.Gly1183Asp) single nucleotide variant Uncertain significance rs142964720 GRCh37 Chromosome 21, 34015767: 34015767
21 SYNJ1 NM_003895.3(SYNJ1): c.2703C> T (p.Val901=) single nucleotide variant Likely benign rs771973400 GRCh37 Chromosome 21, 34029206: 34029206
22 SYNJ1 NM_003895.3(SYNJ1): c.2703C> T (p.Val901=) single nucleotide variant Likely benign rs771973400 GRCh38 Chromosome 21, 32656896: 32656896
23 SYNJ1 NM_003895.3(SYNJ1): c.2463G> A (p.Pro821=) single nucleotide variant Likely benign rs61753644 GRCh37 Chromosome 21, 34030141: 34030141
24 SYNJ1 NM_003895.3(SYNJ1): c.2463G> A (p.Pro821=) single nucleotide variant Likely benign rs61753644 GRCh38 Chromosome 21, 32657831: 32657831
25 SYNJ1 NM_003895.3(SYNJ1): c.1236-8G> T single nucleotide variant Benign rs138882423 GRCh37 Chromosome 21, 34056437: 34056437
26 SYNJ1 NM_003895.3(SYNJ1): c.1236-8G> T single nucleotide variant Benign rs138882423 GRCh38 Chromosome 21, 32684127: 32684127
27 SYNJ1 NM_003895.3(SYNJ1): c.1119C> T (p.Asp373=) single nucleotide variant Likely benign rs763601982 GRCh37 Chromosome 21, 34058174: 34058174
28 SYNJ1 NM_003895.3(SYNJ1): c.1119C> T (p.Asp373=) single nucleotide variant Likely benign rs763601982 GRCh38 Chromosome 21, 32685864: 32685864
29 SYNJ1 NM_003895.3(SYNJ1): c.960T> C (p.Ala320=) single nucleotide variant Likely benign rs372016074 GRCh37 Chromosome 21, 34060624: 34060624
30 SYNJ1 NM_003895.3(SYNJ1): c.960T> C (p.Ala320=) single nucleotide variant Likely benign rs372016074 GRCh38 Chromosome 21, 32688314: 32688314
31 SYNJ1 NM_003895.3(SYNJ1): c.4263G> T (p.Arg1421=) single nucleotide variant Likely benign rs777299829 GRCh37 Chromosome 21, 34003881: 34003881
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.4202C> T (p.Thr1401Met) single nucleotide variant Uncertain significance rs1341548536 GRCh37 Chromosome 21, 34003942: 34003942
34 SYNJ1 NM_003895.3(SYNJ1): c.4202C> T (p.Thr1401Met) single nucleotide variant Uncertain significance rs1341548536 GRCh38 Chromosome 21, 32631632: 32631632
35 SYNJ1 NM_003895.3(SYNJ1): c.3839T> C (p.Leu1280Pro) single nucleotide variant Uncertain significance rs548516848 GRCh37 Chromosome 21, 34011411: 34011411
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.3753G> A (p.Ala1251=) single nucleotide variant Likely benign rs576444776 GRCh37 Chromosome 21, 34012042: 34012042
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.3705G> A (p.Pro1235=) single nucleotide variant Uncertain significance rs1160685381 GRCh37 Chromosome 21, 34014206: 34014206
40 SYNJ1 NM_003895.3(SYNJ1): c.3705G> A (p.Pro1235=) single nucleotide variant Uncertain significance rs1160685381 GRCh38 Chromosome 21, 32641896: 32641896
41 SYNJ1 NM_003895.3(SYNJ1): c.3322A> G (p.Ser1108Gly) single nucleotide variant Likely benign rs149817769 GRCh37 Chromosome 21, 34018745: 34018745
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.2999A> G (p.Asn1000Ser) single nucleotide variant Uncertain significance rs754401787 GRCh37 Chromosome 21, 34022649: 34022649
44 SYNJ1 NM_003895.3(SYNJ1): c.2999A> G (p.Asn1000Ser) single nucleotide variant Uncertain significance rs754401787 GRCh38 Chromosome 21, 32650339: 32650339
45 SYNJ1 NM_003895.3(SYNJ1): c.1672A> G (p.Ser558Gly) single nucleotide variant Uncertain significance rs148901211 GRCh37 Chromosome 21, 34045821: 34045821
46 SYNJ1 NM_003895.3(SYNJ1): c.1672A> G (p.Ser558Gly) single nucleotide variant Uncertain significance rs148901211 GRCh38 Chromosome 21, 32673511: 32673511
47 SYNJ1 NM_003895.3(SYNJ1): c.1663G> A (p.Val555Ile) single nucleotide variant Benign rs113708828 GRCh37 Chromosome 21, 34045830: 34045830
48 SYNJ1 NM_003895.3(SYNJ1): c.1663G> A (p.Val555Ile) single nucleotide variant Benign rs113708828 GRCh38 Chromosome 21, 32673520: 32673520
49 SYNJ1 NM_003895.3(SYNJ1): c.1026A> G (p.Gly342=) single nucleotide variant Likely benign rs145522240 GRCh37 Chromosome 21, 34059327: 34059327
50 SYNJ1 NM_003895.3(SYNJ1): c.1026A> G (p.Gly342=) single nucleotide variant Likely benign rs145522240 GRCh38 Chromosome 21, 32687017: 32687017

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

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