EIEE53
MCID: EPL195
MIFTS: 28

Epileptic Encephalopathy, Early Infantile, 53 (EIEE53)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral 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 56 73 29 6
Eiee53 56 73
Early Infantile Epileptic Encephalopathy 53 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
epileptic encephalopathy, early infantile, 53:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080464
OMIM 56 617389
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 53

OMIM : 56 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, is also known as eiee53. An important gene associated with Epileptic Encephalopathy, Early Infantile, 53 is SYNJ1 (Synaptojanin 1). Affiliated tissues include eye, liver and bone, and related phenotypes are feeding difficulties and visual impairment

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 : 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 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
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 53

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

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

Symptoms via clinical synopsis from OMIM:

56
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:

40
Eye, Liver, Bone

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. 56 6
27435091 2016
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
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 138) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SYNJ1 NM_003895.3(SYNJ1):c.2663A>G (p.Tyr888Cys)SNV Pathogenic 393357 rs1057524877 21:34029346-34029346 21:32657036-32657036
2 SYNJ1 NM_003895.3(SYNJ1):c.2528G>A (p.Trp843Ter)SNV Pathogenic 393358 rs1057524878 21:34030076-34030076 21:32657766-32657766
3 SYNJ1 NM_003895.3(SYNJ1):c.1938del (p.Gln647fs)deletion Pathogenic 393359 rs1057524879 21:34038874-34038874 21:32666564-32666564
4 SYNJ1 NM_003895.3(SYNJ1):c.3365-2A>GSNV Pathogenic 393360 rs1057524880 21:34018101-34018101 21:32645791-32645791
5 SYNJ1 NM_003895.3(SYNJ1):c.2910_2914del (p.Arg971fs)deletion Pathogenic 570902 rs778394516 21:34028997-34029001 21:32656687-32656691
6 SYNJ1 NM_003895.3(SYNJ1):c.24G>A (p.Trp8Ter)SNV Pathogenic 575322 rs1569147057 21:34100328-34100328 21:32728017-32728017
7 SYNJ1 NM_003895.3(SYNJ1):c.1318-2A>GSNV Likely pathogenic 570738 rs1569086116 21:34053960-34053960 21:32681650-32681650
8 SYNJ1 NM_003895.3(SYNJ1):c.2991+5G>ASNV Conflicting interpretations of pathogenicity 478336 rs371765751 21:34025593-34025593 21:32653283-32653283
9 SYNJ1 NM_003895.3(SYNJ1):c.2023G>A (p.Val675Ile)SNV Conflicting interpretations of pathogenicity 478331 rs373820739 21:34038789-34038789 21:32666479-32666479
10 SYNJ1 NM_003895.3(SYNJ1):c.1598G>A (p.Arg533Gln)SNV Uncertain significance 478327 rs781599934 21:34050984-34050984 21:32678674-32678674
11 SYNJ1 NM_003895.3(SYNJ1):c.959C>G (p.Ala320Gly)SNV Uncertain significance 478368 rs1046699971 21:34060625-34060625 21:32688315-32688315
12 SYNJ1 NM_003895.3(SYNJ1):c.925C>T (p.Arg309Cys)SNV Uncertain significance 478367 rs547450707 21:34060659-34060659 21:32688349-32688349
13 SYNJ1 NM_003895.3(SYNJ1):c.3954T>A (p.Asn1318Lys)SNV Uncertain significance 544567 rs1555888329 21:34011296-34011296 21:32638986-32638986
14 SYNJ1 NM_003895.3(SYNJ1):c.3928A>G (p.Met1310Val)SNV Uncertain significance 544561 rs751069566 21:34011322-34011322 21:32639012-32639012
15 SYNJ1 NM_003895.3(SYNJ1):c.4025A>G (p.Gln1342Arg)SNV Uncertain significance 544562 rs546986773 21:34011225-34011225 21:32638915-32638915
16 SYNJ1 NM_003895.3(SYNJ1):c.4217T>C (p.Leu1406Ser)SNV Uncertain significance 544552 rs866258846 21:34003927-34003927 21:32631617-32631617
17 SYNJ1 NM_003895.3(SYNJ1):c.2909T>C (p.Ile970Thr)SNV Uncertain significance 544555 rs932390799 21:34029000-34029000 21:32656690-32656690
18 SYNJ1 NM_003895.3(SYNJ1):c.2903T>C (p.Ile968Thr)SNV Uncertain significance 544559 rs755258923 21:34029006-34029006 21:32656696-32656696
19 SYNJ1 NM_003895.3(SYNJ1):c.2579-10C>GSNV Uncertain significance 544566 rs775703634 21:34029440-34029440 21:32657130-32657130
20 SYNJ1 NM_003895.3(SYNJ1):c.3527C>T (p.Pro1176Leu)SNV Uncertain significance 544570 rs569046864 21:34017298-34017298 21:32644988-32644988
21 SYNJ1 NM_003895.3(SYNJ1):c.2721A>G (p.Ile907Met)SNV Uncertain significance 478335 rs377165480 21:34029188-34029188 21:32656878-32656878
22 SYNJ1 NM_003895.3(SYNJ1):c.1625G>A (p.Arg542His)SNV Uncertain significance 574661 rs756697570 21:34050957-34050957 21:32678647-32678647
23 SYNJ1 NM_003895.3(SYNJ1):c.920G>A (p.Arg307His)SNV Uncertain significance 576906 rs201796096 21:34060664-34060664 21:32688354-32688354
24 SYNJ1 NM_003895.3(SYNJ1):c.747A>T (p.Glu249Asp)SNV Uncertain significance 570013 rs1377390036 21:34067442-34067442 21:32695132-32695132
25 SYNJ1 NM_003895.3(SYNJ1):c.142A>G (p.Ile48Val)SNV Uncertain significance 572043 rs757895747 21:34099182-34099182 21:32726871-32726871
26 SYNJ1 NM_003895.3(SYNJ1):c.4642A>G (p.Ser1548Gly)SNV Uncertain significance 573244 rs769954720 21:34003502-34003502 21:32631192-32631192
27 SYNJ1 NM_003895.3(SYNJ1):c.3863C>T (p.Pro1288Leu)SNV Uncertain significance 567214 rs149288077 21:34011387-34011387 21:32639077-32639077
28 SYNJ1 NM_003895.3(SYNJ1):c.3727G>A (p.Val1243Ile)SNV Uncertain significance 572373 rs1569027714 21:34012068-34012068 21:32639758-32639758
29 SYNJ1 NM_003895.3(SYNJ1):c.3398_3403del (p.Leu1133_Pro1134del)deletion Uncertain significance 579422 rs1283379982 21:34018061-34018066 21:32645751-32645756
30 SYNJ1 NM_003895.3(SYNJ1):c.3332C>A (p.Pro1111Gln)SNV Uncertain significance 565611 rs771524798 21:34018735-34018735 21:32646425-32646425
31 SYNJ1 NM_003895.3(SYNJ1):c.3256C>G (p.Arg1086Gly)SNV Uncertain significance 576516 rs147931121 21:34018811-34018811 21:32646501-32646501
32 SYNJ1 NM_003895.3(SYNJ1):c.2991+6G>ASNV Uncertain significance 583130 rs368204504 21:34025592-34025592 21:32653282-32653282
33 SYNJ1 NM_003895.3(SYNJ1):c.2495A>G (p.Tyr832Cys)SNV Uncertain significance 579673 rs1283151166 21:34030109-34030109 21:32657799-32657799
34 SYNJ1 NM_003895.3(SYNJ1):c.2371G>T (p.Asp791Tyr)SNV Uncertain significance 573462 rs145978776 21:34037273-34037273 21:32664963-32664963
35 SYNJ1 NM_003895.3(SYNJ1):c.3808T>C (p.Ser1270Pro)SNV Uncertain significance 478349 rs767695759 21:34011987-34011987 21:32639677-32639677
36 SYNJ1 NM_003895.3(SYNJ1):c.587G>C (p.Arg196Thr)SNV Uncertain significance 582994 rs375831365 21:34072157-34072157 21:32699847-32699847
37 SYNJ1 NC_000021.8:g.(?_33974153)_(34074377_?)dupduplication Uncertain significance 584218 21:33974153-34074377 21:32601843-32702067
38 SYNJ1 NM_003895.3(SYNJ1):c.3999T>G (p.His1333Gln)SNV Uncertain significance 576646 rs1569025711 21:34011251-34011251 21:32638941-32638941
39 SYNJ1 NM_003895.3(SYNJ1):c.3914C>G (p.Pro1305Arg)SNV Uncertain significance 577253 rs767170641 21:34011336-34011336 21:32639026-32639026
40 SYNJ1 NM_003895.3(SYNJ1):c.3437G>A (p.Arg1146Gln)SNV Uncertain significance 569857 rs917502531 21:34018027-34018027 21:32645717-32645717
41 SYNJ1 NM_003895.3(SYNJ1):c.3214T>C (p.Ser1072Pro)SNV Uncertain significance 580644 rs61752559 21:34018853-34018853 21:32646543-32646543
42 SYNJ1 NM_003895.3(SYNJ1):c.2898A>G (p.Glu966=)SNV Uncertain significance 572728 rs1350091132 21:34029011-34029011 21:32656701-32656701
43 SYNJ1 NM_003895.3(SYNJ1):c.2861T>C (p.Ile954Thr)SNV Uncertain significance 578766 rs867564053 21:34029048-34029048 21:32656738-32656738
44 SYNJ1 NM_003895.3(SYNJ1):c.2770G>A (p.Val924Ile)SNV Uncertain significance 581736 rs763757097 21:34029139-34029139 21:32656829-32656829
45 SYNJ1 NM_203446.2(SYNJ1):c.2592_2594TCT[1] (p.Leu866del)short repeat Uncertain significance 567697 rs769856515 21:34029412-34029414 21:32657102-32657104
46 SYNJ1 NM_003895.3(SYNJ1):c.1720G>A (p.Val574Ile)SNV Uncertain significance 575982 rs145712835 21:34045773-34045773 21:32673463-32673463
47 SYNJ1 NM_003895.3(SYNJ1):c.1223G>A (p.Ser408Asn)SNV Uncertain significance 582650 rs147544792 21:34058070-34058070 21:32685760-32685760
48 SYNJ1 NM_003895.3(SYNJ1):c.1047G>A (p.Met349Ile)SNV Uncertain significance 575493 rs749045961 21:34059306-34059306 21:32686996-32686996
49 SYNJ1 NM_003895.3(SYNJ1):c.328G>C (p.Gly110Arg)SNV Uncertain significance 565896 rs1569113660 21:34074271-34074271 21:32701961-32701961
50 SYNJ1 NM_003895.3(SYNJ1):c.137T>A (p.Phe46Tyr)SNV Uncertain significance 570462 rs748690832 21:34099187-34099187 21:32726876-32726876

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

73
# 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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