EIEE53
MCID: EPL195
MIFTS: 39

Epileptic Encephalopathy, Early Infantile, 53 (EIEE53)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological 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 56 73 29 6
Early Infantile Epileptic Encephalopathy 53 12 15
Eiee53 56 73

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, also known as early infantile epileptic encephalopathy 53, is related to charcot-marie-tooth disease, type 4j and lowe oculocerebrorenal syndrome. An important gene associated with Epileptic Encephalopathy, Early Infantile, 53 is SYNJ1 (Synaptojanin 1), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. Affiliated tissues include eye and liver, 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 : 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 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

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 charcot-marie-tooth disease, type 4j 9.9 SYNJ1 SACM1L
2 lowe oculocerebrorenal syndrome 9.7 SYNJ1 SACM1L
3 myopathy, centronuclear, x-linked 9.6 SACM1L MTMR7
4 ciliary dyskinesia, primary, 26 9.4 TMPRSS15 SYNJ1 LIPI CFAP298
5 macrocephaly/autism syndrome 8.7 PIP4K2C PI4K2B MTMR7 INPP5K
6 joubert syndrome 1 8.5 SYNJ1 SACM1L PIP4K2C MTMR7 INPP5K
7 parkinson disease 20, early-onset 8.2 SYNJ1 SACM1L PIP4K2C PI4K2B MTMR7 INPP5K

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 53:



Diseases related to Epileptic Encephalopathy, Early Infantile, 53

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 visual impairment 31 HP:0000505
2 spastic tetraplegia 31 HP:0002510
3 elevated serum creatine kinase 31 HP:0003236
4 feeding difficulties 31 HP:0011968
5 increased serum lactate 31 HP:0002151
6 hypoplasia of the corpus callosum 31 HP:0002079
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:

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:
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

GenomeRNAi Phenotypes related to Epileptic Encephalopathy, Early Infantile, 53 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00173-A 9.02 INPP5K PI4K2B
2 Decreased viability GR00221-A-3 9.02 PI4K2B
3 Decreased viability GR00249-S 9.02 INPP5K
4 Decreased viability GR00402-S-2 9.02 PI4K2B

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

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 270) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_203446.3(SYNJ1):c.2793_2797del (p.Arg932fs)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 NC_000021.9:g.(?_32727926)_(32728060_?)deldeletion Pathogenic 833242 21:34100237-34100371
8 SYNJ1 NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs)deletion Pathogenic 848199 21:34018824-34018824 21:32646514-32646514
9 SYNJ1 NM_003895.3(SYNJ1):c.1318-2A>GSNV Likely pathogenic 570738 rs1569086116 21:34053960-34053960 21:32681650-32681650
10 SYNJ1 NM_003895.3(SYNJ1):c.3707C>T (p.Thr1236Met)SNV Conflicting interpretations of pathogenicity 478345 rs145937537 21:34012088-34012088 21:32639778-32639778
11 SYNJ1 NM_003895.3(SYNJ1):c.2991+5G>ASNV Conflicting interpretations of pathogenicity 478336 rs371765751 21:34025593-34025593 21:32653283-32653283
12 SYNJ1 NM_003895.3(SYNJ1):c.2023G>A (p.Val675Ile)SNV Conflicting interpretations of pathogenicity 478331 rs373820739 21:34038789-34038789 21:32666479-32666479
13 SYNJ1 NM_003895.3(SYNJ1):c.1598G>A (p.Arg533Gln)SNV Uncertain significance 478327 rs781599934 21:34050984-34050984 21:32678674-32678674
14 SYNJ1 NM_003895.3(SYNJ1):c.959C>G (p.Ala320Gly)SNV Uncertain significance 478368 rs1046699971 21:34060625-34060625 21:32688315-32688315
15 SYNJ1 NM_003895.3(SYNJ1):c.925C>T (p.Arg309Cys)SNV Uncertain significance 478367 rs547450707 21:34060659-34060659 21:32688349-32688349
16 SYNJ1 NM_003895.3(SYNJ1):c.2721A>G (p.Ile907Met)SNV Uncertain significance 478335 rs377165480 21:34029188-34029188 21:32656878-32656878
17 SYNJ1 NM_003895.3(SYNJ1):c.3808T>C (p.Ser1270Pro)SNV Uncertain significance 478349 rs767695759 21:34011987-34011987 21:32639677-32639677
18 SYNJ1 NM_003895.3(SYNJ1):c.3954T>A (p.Asn1318Lys)SNV Uncertain significance 544567 rs1555888329 21:34011296-34011296 21:32638986-32638986
19 SYNJ1 NM_003895.3(SYNJ1):c.3928A>G (p.Met1310Val)SNV Uncertain significance 544561 rs751069566 21:34011322-34011322 21:32639012-32639012
20 SYNJ1 NM_003895.3(SYNJ1):c.4025A>G (p.Gln1342Arg)SNV Uncertain significance 544562 rs546986773 21:34011225-34011225 21:32638915-32638915
21 SYNJ1 NM_003895.3(SYNJ1):c.4217T>C (p.Leu1406Ser)SNV Uncertain significance 544552 rs866258846 21:34003927-34003927 21:32631617-32631617
22 SYNJ1 NM_003895.3(SYNJ1):c.2909T>C (p.Ile970Thr)SNV Uncertain significance 544555 rs932390799 21:34029000-34029000 21:32656690-32656690
23 SYNJ1 NM_003895.3(SYNJ1):c.2903T>C (p.Ile968Thr)SNV Uncertain significance 544559 rs755258923 21:34029006-34029006 21:32656696-32656696
24 SYNJ1 NM_003895.3(SYNJ1):c.2579-10C>GSNV Uncertain significance 544566 rs775703634 21:34029440-34029440 21:32657130-32657130
25 SYNJ1 NM_003895.3(SYNJ1):c.3527C>T (p.Pro1176Leu)SNV Uncertain significance 544570 rs569046864 21:34017298-34017298 21:32644988-32644988
26 SYNJ1 NM_003895.3(SYNJ1):c.51_62del (p.15_18GGCG[1])deletion Uncertain significance 544571 rs1035093736 21:34100290-34100301 21:32727979-32727990
27 SYNJ1 NM_003895.3(SYNJ1):c.3641G>C (p.Ser1214Thr)SNV Uncertain significance 544547 rs994115947 21:34014270-34014270 21:32641960-32641960
28 SYNJ1 NM_003895.3(SYNJ1):c.1949G>T (p.Trp650Leu)SNV Uncertain significance 544568 rs1481650772 21:34038863-34038863 21:32666553-32666553
29 SYNJ1 NM_003895.3(SYNJ1):c.3421C>T (p.Pro1141Ser)SNV Uncertain significance 544558 rs1368672974 21:34018043-34018043 21:32645733-32645733
30 SYNJ1 NM_003895.3(SYNJ1):c.1583T>C (p.Leu528Ser)SNV Uncertain significance 544564 rs1238065971 21:34050999-34050999 21:32678689-32678689
31 SYNJ1 NM_003895.3(SYNJ1):c.1423A>G (p.Ile475Val)SNV Uncertain significance 544557 rs763870801 21:34053853-34053853 21:32681543-32681543
32 SYNJ1 NM_003895.3(SYNJ1):c.3326G>A (p.Arg1109Gln)SNV Uncertain significance 544549 rs141107054 21:34018741-34018741 21:32646431-32646431
33 SYNJ1 NM_003895.3(SYNJ1):c.3296C>G (p.Pro1099Arg)SNV Uncertain significance 544565 rs1430500307 21:34018771-34018771 21:32646461-32646461
34 SYNJ1 NM_003895.3(SYNJ1):c.2714T>C (p.Ile905Thr)SNV Uncertain significance 544554 rs114053718 21:34029195-34029195 21:32656885-32656885
35 SYNJ1 NM_003895.3(SYNJ1):c.3548G>A (p.Gly1183Asp)SNV Uncertain significance 478343 rs142964720 21:34015767-34015767 21:32643457-32643457
36 SYNJ1 NM_003895.3(SYNJ1):c.4202C>T (p.Thr1401Met)SNV Uncertain significance 478353 rs1341548536 21:34003942-34003942 21:32631632-32631632
37 SYNJ1 NM_003895.3(SYNJ1):c.3839T>C (p.Leu1280Pro)SNV Uncertain significance 478350 rs548516848 21:34011411-34011411 21:32639101-32639101
38 SYNJ1 NM_003895.3(SYNJ1):c.3705G>A (p.Pro1235=)SNV Uncertain significance 478344 rs1160685381 21:34014206-34014206 21:32641896-32641896
39 SYNJ1 NM_003895.3(SYNJ1):c.2999A>G (p.Asn1000Ser)SNV Uncertain significance 478338 rs754401787 21:34022649-34022649 21:32650339-32650339
40 SYNJ1 NM_003895.3(SYNJ1):c.1672A>G (p.Ser558Gly)SNV Uncertain significance 478329 rs148901211 21:34045821-34045821 21:32673511-32673511
41 SYNJ1 NM_003895.3(SYNJ1):c.4603T>A (p.Ser1535Thr)SNV Uncertain significance 478359 rs138122167 21:34003541-34003541 21:32631231-32631231
42 SYNJ1 NM_003895.3(SYNJ1):c.3407A>G (p.Lys1136Arg)SNV Uncertain significance 478340 rs946267411 21:34018057-34018057 21:32645747-32645747
43 SYNJ1 NM_003895.3(SYNJ1):c.2050_2051delinsAG (p.Gln684Arg)indel Uncertain significance 478332 rs1555896707 21:34038761-34038762 21:32666451-32666452
44 SYNJ1 NM_003895.3(SYNJ1):c.3806C>T (p.Thr1269Met)SNV Uncertain significance 478348 rs752805765 21:34011989-34011989 21:32639679-32639679
45 SYNJ1 NM_003895.3(SYNJ1):c.3755G>A (p.Arg1252Gln)SNV Uncertain significance 478347 rs144048853 21:34012040-34012040 21:32639730-32639730
46 SYNJ1 NM_003895.3(SYNJ1):c.587G>C (p.Arg196Thr)SNV Uncertain significance 582994 rs375831365 21:34072157-34072157 21:32699847-32699847
47 SYNJ1 NC_000021.8:g.(?_33974153)_(34074377_?)dupduplication Uncertain significance 584218 21:33974153-34074377 21:32601843-32702067
48 SYNJ1 NM_003895.3(SYNJ1):c.3999T>G (p.His1333Gln)SNV Uncertain significance 576646 rs1569025711 21:34011251-34011251 21:32638941-32638941
49 SYNJ1 NM_003895.3(SYNJ1):c.3914C>G (p.Pro1305Arg)SNV Uncertain significance 577253 rs767170641 21:34011336-34011336 21:32639026-32639026
50 SYNJ1 NM_003895.3(SYNJ1):c.3437G>A (p.Arg1146Gln)SNV Uncertain significance 569857 rs917502531 21:34018027-34018027 21:32645717-32645717

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

Pathways related to Epileptic Encephalopathy, Early Infantile, 53 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 SYNJ1 SACM1L PIP4K2C PI4K2B MTMR7 LIPI
2
Show member pathways
12.37 SYNJ1 SACM1L PIP4K2C PI4K2B MTMR7 INPP5K
3
Show member pathways
12 SYNJ1 SACM1L PIP4K2C PI4K2B MTMR7 INPP5K
4
Show member pathways
11.36 SYNJ1 SACM1L PIP4K2C PI4K2B MTMR7 INPP5K
5 10.73 SYNJ1 SACM1L INPP5K

GO Terms for Epileptic Encephalopathy, Early Infantile, 53

Biological processes related to Epileptic Encephalopathy, Early Infantile, 53 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inositol phosphate dephosphorylation GO:0046855 9.33 SYNJ1 MTMR7 INPP5K
2 phosphatidylinositol phosphorylation GO:0046854 9.32 PIP4K2C PI4K2B
3 phosphatidylinositol metabolic process GO:0046488 9.26 SYNJ1 PIP4K2C
4 phosphatidylinositol dephosphorylation GO:0046856 9.26 SYNJ1 SACM1L MTMR7 INPP5K
5 phosphatidylinositol biosynthetic process GO:0006661 9.1 SYNJ1 SACM1L PIP4K2C PI4K2B MTMR7 INPP5K

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 53 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.88 TMPRSS15 SYNJ1 SACM1L MTMR7 LIPI INPP5K
2 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity GO:0004439 9.37 SYNJ1 INPP5K
3 phosphoric ester hydrolase activity GO:0042578 9.32 SYNJ1 SACM1L
4 inositol-1,4,5-trisphosphate 5-phosphatase activity GO:0052658 9.26 SYNJ1 INPP5K
5 phosphatidylinositol-4-phosphate phosphatase activity GO:0043812 9.16 SYNJ1 SACM1L
6 phosphatidylinositol phosphate 5-phosphatase activity GO:0034595 8.96 SYNJ1 INPP5K
7 phosphatidylinositol-3-phosphatase activity GO:0004438 8.8 SYNJ1 SACM1L MTMR7

Sources for Epileptic Encephalopathy, Early Infantile, 53

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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