EIEE30
MCID: EPL157
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 30 (EIEE30)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 30

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 30:

Name: Epileptic Encephalopathy, Early Infantile, 30 58 76 30 6
Eiee30 58 76
Encephalopathy, Epileptic, Early Infantile, Type 30 41
Early Infantile Epileptic Encephalopathy 30 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
early death may occur
mutations occur de novo
onset at birth or in the first months of life


HPO:

33
epileptic encephalopathy, early infantile, 30:
Mortality/Aging death in infancy
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 30

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 30: 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 30, is also known as eiee30. An important gene associated with Epileptic Encephalopathy, Early Infantile, 30 is SIK1 (Salt Inducible Kinase 1). Related phenotypes are global developmental delay and stereotypy

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SIK1 gene on chromosome 21q22.

Description from OMIM: 616341

Related Diseases for Epileptic Encephalopathy, Early Infantile, 30

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 30

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 30:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 very rare (1%) HP:0001263
2 stereotypy 33 very rare (1%) HP:0000733
3 generalized myoclonic seizures 33 very rare (1%) HP:0002123
4 respiratory distress 33 very rare (1%) HP:0002098
5 absent speech 33 very rare (1%) HP:0001344
6 feeding difficulties 33 HP:0011968
7 generalized tonic-clonic seizures 33 HP:0002069
8 encephalopathy 33 HP:0001298
9 hypsarrhythmia 33 HP:0002521
10 epileptic encephalopathy 33 HP:0200134

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
feeding difficulties

Respiratory:
respiratory difficulties

Head And Neck Eyes:
poor visual contact

Neurologic Central Nervous System:
generalized tonic-clonic seizures
encephalopathy
hypsarrhythmia
seizures, refractory
myoclonic seizures
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features

Clinical features from OMIM:

616341

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 30

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 30

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 30

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 30:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 30 30 SIK1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 30

Publications for Epileptic Encephalopathy, Early Infantile, 30

Variations for Epileptic Encephalopathy, Early Infantile, 30

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 30:

76
# Symbol AA change Variation ID SNP ID
1 SIK1 p.Pro287Thr VAR_073701 rs786205159
2 SIK1 p.Ser411Cys VAR_073702
3 SIK1 p.Gly636Ser VAR_073703 rs786205163

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 30:

6 (show top 50) (show all 184)
# Gene Variation Type Significance SNP ID Assembly Location
1 SIK1 NM_173354.4(SIK1): c.859C> A (p.Pro287Thr) single nucleotide variant Pathogenic rs786205159 GRCh37 Chromosome 21, 44840227: 44840227
2 SIK1 NM_173354.4(SIK1): c.859C> A (p.Pro287Thr) single nucleotide variant Pathogenic rs786205159 GRCh38 Chromosome 21, 43420347: 43420347
3 SIK1 NM_173354.4(SIK1): c.1039G> T (p.Glu347Ter) single nucleotide variant Pathogenic rs786205160 GRCh37 Chromosome 21, 44839819: 44839819
4 SIK1 NM_173354.4(SIK1): c.1039G> T (p.Glu347Ter) single nucleotide variant Pathogenic rs786205160 GRCh38 Chromosome 21, 43419939: 43419939
5 SIK1 NM_173354.4(SIK1): c.1840C> T (p.Gln614Ter) single nucleotide variant Pathogenic rs786205161 GRCh38 Chromosome 21, 43417679: 43417679
6 SIK1 NM_173354.4(SIK1): c.1840C> T (p.Gln614Ter) single nucleotide variant Pathogenic rs786205161 GRCh37 Chromosome 21, 44837559: 44837559
7 SIK1 NM_173354.4(SIK1): c.1897C> T (p.Gln633Ter) single nucleotide variant Pathogenic rs786205162 GRCh37 Chromosome 21, 44837502: 44837502
8 SIK1 NM_173354.4(SIK1): c.1897C> T (p.Gln633Ter) single nucleotide variant Pathogenic rs786205162 GRCh38 Chromosome 21, 43417622: 43417622
9 SIK1 NM_173354.4(SIK1): c.1906G> A (p.Gly636Ser) single nucleotide variant Pathogenic rs786205163 GRCh38 Chromosome 21, 43417613: 43417613
10 SIK1 NM_173354.4(SIK1): c.1906G> A (p.Gly636Ser) single nucleotide variant Pathogenic rs786205163 GRCh37 Chromosome 21, 44837493: 44837493
11 SIK1 NM_173354.4(SIK1): c.2087C> T (p.Pro696Leu) single nucleotide variant Benign rs56386767 GRCh37 Chromosome 21, 44836887: 44836887
12 SIK1 NM_173354.4(SIK1): c.2087C> T (p.Pro696Leu) single nucleotide variant Benign rs56386767 GRCh38 Chromosome 21, 43417007: 43417007
13 SIK1 NM_173354.4(SIK1): c.274-3delT deletion Benign/Likely benign rs550878772 GRCh37 Chromosome 21, 44841920: 44841920
14 SIK1 NM_173354.4(SIK1): c.274-3delT deletion Benign/Likely benign rs550878772 GRCh38 Chromosome 21, 43422040: 43422040
15 SIK1 NM_173354.4(SIK1): c.1215G> A (p.Met405Ile) single nucleotide variant Benign/Likely benign rs34987632 GRCh37 Chromosome 21, 44839263: 44839263
16 SIK1 NM_173354.4(SIK1): c.1215G> A (p.Met405Ile) single nucleotide variant Benign/Likely benign rs34987632 GRCh38 Chromosome 21, 43419383: 43419383
17 SIK1 NM_173354.4(SIK1): c.1455C> T (p.Thr485=) single nucleotide variant Benign rs28510483 GRCh37 Chromosome 21, 44838908: 44838908
18 SIK1 NM_173354.4(SIK1): c.1455C> T (p.Thr485=) single nucleotide variant Benign rs28510483 GRCh38 Chromosome 21, 43419028: 43419028
19 SIK1 NM_173354.4(SIK1): c.1926C> T (p.Ala642=) single nucleotide variant Likely benign rs761311570 GRCh38 Chromosome 21, 43417593: 43417593
20 SIK1 NM_173354.4(SIK1): c.1926C> T (p.Ala642=) single nucleotide variant Likely benign rs761311570 GRCh37 Chromosome 21, 44837473: 44837473
21 SIK1 NM_173354.4(SIK1): c.1604C> T (p.Pro535Leu) single nucleotide variant Uncertain significance rs373576665 GRCh37 Chromosome 21, 44838280: 44838280
22 SIK1 NM_173354.4(SIK1): c.1604C> T (p.Pro535Leu) single nucleotide variant Uncertain significance rs373576665 GRCh38 Chromosome 21, 43418400: 43418400
23 SIK1 NM_173354.4(SIK1): c.1554G> T (p.Ala518=) single nucleotide variant Benign rs34487963 GRCh37 Chromosome 21, 44838330: 44838330
24 SIK1 NM_173354.4(SIK1): c.1554G> T (p.Ala518=) single nucleotide variant Benign rs34487963 GRCh38 Chromosome 21, 43418450: 43418450
25 SIK1 NM_173354.4(SIK1): c.1489G> T (p.Ala497Ser) single nucleotide variant Benign rs35519605 GRCh37 Chromosome 21, 44838395: 44838395
26 SIK1 NM_173354.4(SIK1): c.1489G> T (p.Ala497Ser) single nucleotide variant Benign rs35519605 GRCh38 Chromosome 21, 43418515: 43418515
27 SIK1 NM_173354.4(SIK1): c.1471G> C (p.Val491Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs140222760 GRCh38 Chromosome 21, 43418533: 43418533
28 SIK1 NM_173354.4(SIK1): c.1471G> C (p.Val491Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs140222760 GRCh37 Chromosome 21, 44838413: 44838413
29 SIK1 NM_173354.4(SIK1): c.951G> T (p.Val317=) single nucleotide variant Benign/Likely benign rs113514102 GRCh38 Chromosome 21, 43420255: 43420255
30 SIK1 NM_173354.4(SIK1): c.951G> T (p.Val317=) single nucleotide variant Benign/Likely benign rs113514102 GRCh37 Chromosome 21, 44840135: 44840135
31 SIK1 NM_173354.4(SIK1): c.906C> T (p.Gly302=) single nucleotide variant Benign rs113379599 GRCh38 Chromosome 21, 43420300: 43420300
32 SIK1 NM_173354.4(SIK1): c.906C> T (p.Gly302=) single nucleotide variant Benign rs113379599 GRCh37 Chromosome 21, 44840180: 44840180
33 SIK1 NM_173354.4(SIK1): c.693G> A (p.Thr231=) single nucleotide variant Benign rs113685366 GRCh38 Chromosome 21, 43421065: 43421065
34 SIK1 NM_173354.4(SIK1): c.693G> A (p.Thr231=) single nucleotide variant Benign rs113685366 GRCh37 Chromosome 21, 44840945: 44840945
35 SIK1 NM_173354.4(SIK1): c.306C> T (p.Val102=) single nucleotide variant Likely benign rs201331473 GRCh38 Chromosome 21, 43422005: 43422005
36 SIK1 NM_173354.4(SIK1): c.306C> T (p.Val102=) single nucleotide variant Likely benign rs201331473 GRCh37 Chromosome 21, 44841885: 44841885
37 SIK1 NM_173354.4(SIK1): c.2243G> A (p.Arg748His) single nucleotide variant Conflicting interpretations of pathogenicity rs375516507 GRCh37 Chromosome 21, 44836731: 44836731
38 SIK1 NM_173354.4(SIK1): c.2243G> A (p.Arg748His) single nucleotide variant Conflicting interpretations of pathogenicity rs375516507 GRCh38 Chromosome 21, 43416851: 43416851
39 SIK1 NM_173354.4(SIK1): c.2204G> A (p.Gly735Asp) single nucleotide variant Benign/Likely benign rs201955244 GRCh38 Chromosome 21, 43416890: 43416890
40 SIK1 NM_173354.4(SIK1): c.2204G> A (p.Gly735Asp) single nucleotide variant Benign/Likely benign rs201955244 GRCh37 Chromosome 21, 44836770: 44836770
41 SIK1 NM_173354.4(SIK1): c.2142G> A (p.Leu714=) single nucleotide variant Benign/Likely benign rs759724871 GRCh37 Chromosome 21, 44836832: 44836832
42 SIK1 NM_173354.4(SIK1): c.2142G> A (p.Leu714=) single nucleotide variant Benign/Likely benign rs759724871 GRCh38 Chromosome 21, 43416952: 43416952
43 SIK1 NM_173354.4(SIK1): c.2093C> T (p.Pro698Leu) single nucleotide variant Uncertain significance rs757755073 GRCh37 Chromosome 21, 44836881: 44836881
44 SIK1 NM_173354.4(SIK1): c.2093C> T (p.Pro698Leu) single nucleotide variant Uncertain significance rs757755073 GRCh38 Chromosome 21, 43417001: 43417001
45 SIK1 NM_173354.4(SIK1): c.2072G> A (p.Gly691Asp) single nucleotide variant Benign rs200810453 GRCh38 Chromosome 21, 43417022: 43417022
46 SIK1 NM_173354.4(SIK1): c.2072G> A (p.Gly691Asp) single nucleotide variant Benign rs200810453 GRCh37 Chromosome 21, 44836902: 44836902
47 SIK1 NM_173354.4(SIK1): c.2014G> A (p.Gly672Ser) single nucleotide variant Uncertain significance rs751934560 GRCh37 Chromosome 21, 44836960: 44836960
48 SIK1 NM_173354.4(SIK1): c.2014G> A (p.Gly672Ser) single nucleotide variant Uncertain significance rs751934560 GRCh38 Chromosome 21, 43417080: 43417080
49 SIK1 NM_173354.4(SIK1): c.1782G> A (p.Thr594=) single nucleotide variant Benign rs548640382 GRCh37 Chromosome 21, 44837617: 44837617
50 SIK1 NM_173354.4(SIK1): c.1782G> A (p.Thr594=) single nucleotide variant Benign rs548640382 GRCh38 Chromosome 21, 43417737: 43417737

Expression for Epileptic Encephalopathy, Early Infantile, 30

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 30.

Pathways for Epileptic Encephalopathy, Early Infantile, 30

GO Terms for Epileptic Encephalopathy, Early Infantile, 30

Sources for Epileptic Encephalopathy, Early Infantile, 30

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