DEE30
MCID: DVL056
MIFTS: 28

Developmental and Epileptic Encephalopathy 30 (DEE30)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 30

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 30:

Name: Developmental and Epileptic Encephalopathy 30 57 12
Epileptic Encephalopathy, Early Infantile, 30 57 73 29 6
Eiee30 57 73
Dee30 57 12
Epileptic Encephalopathy, Early Infantile, 30; Eiee30 57
Encephalopathy, Epileptic, Early Infantile, Type 30 39
Early Infantile Epileptic Encephalopathy 30 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
developmental and epileptic encephalopathy 30:
Onset and clinical course death in infancy
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 30

OMIM® : 57 Developmental and epileptic encephalopathy-30 (DEE30) is a severe neurologic disorder characterized by onset of refractory seizures soon after birth or in the first months of life. Seizure types include early myoclonic encephalopathy (EME), Ohtahara syndrome, and infantile spasms; most are refractory to treatment. Patients with earlier seizure onset make essentially no developmental progress and may die in infancy. Those with later onset show profoundly impaired global development with absent speech, poor eye contact, inability to walk, behavioral abnormalities, and feeding difficulties that may require a feeding tube (summary by Hansen et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616341) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 30, is also known as epileptic encephalopathy, early infantile, 30. An important gene associated with Developmental and Epileptic Encephalopathy 30 is SIK1 (Salt Inducible Kinase 1). Affiliated tissues include eye, and related phenotypes are global developmental delay and stereotypy

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has material basis in heterozygous mutation in the SIK1 gene on chromosome 21q22.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Developmental and Epileptic Encephalopathy 30

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 30

Human phenotypes related to Developmental and Epileptic Encephalopathy 30:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 stereotypy 31 very rare (1%) HP:0000733
3 absent speech 31 very rare (1%) HP:0001344
4 respiratory distress 31 very rare (1%) HP:0002098
5 generalized myoclonic seizure 31 very rare (1%) HP:0002123
6 encephalopathy 31 HP:0001298
7 feeding difficulties 31 HP:0011968
8 hypsarrhythmia 31 HP:0002521
9 epileptic encephalopathy 31 HP:0200134
10 bilateral tonic-clonic seizure 31 HP:0002069

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
encephalopathy
generalized tonic-clonic seizures
hypsarrhythmia
myoclonic seizures
seizures, refractory
more
Respiratory:
respiratory difficulties

Head And Neck Eyes:
poor visual contact

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Clinical features from OMIM®:

616341 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 30

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 30

Genetic Tests for Developmental and Epileptic Encephalopathy 30

Genetic tests related to Developmental and Epileptic Encephalopathy 30:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 30 29 SIK1

Anatomical Context for Developmental and Epileptic Encephalopathy 30

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 30:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 30

Articles related to Developmental and Epileptic Encephalopathy 30:

# Title Authors PMID Year
1
De novo mutations in SIK1 cause a spectrum of developmental epilepsies. 6 57
25839329 2015

Variations for Developmental and Epileptic Encephalopathy 30

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 30:

6 (show top 50) (show all 261)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIK1 NM_173354.5(SIK1):c.859C>A (p.Pro287Thr) SNV Pathogenic 190105 rs786205159 21:44840227-44840227 21:43420347-43420347
2 SIK1 NM_173354.5(SIK1):c.1039G>T (p.Glu347Ter) SNV Pathogenic 190106 rs786205160 21:44839819-44839819 21:43419939-43419939
3 SIK1 NM_173354.5(SIK1):c.1840C>T (p.Gln614Ter) SNV Pathogenic 190107 rs786205161 21:44837559-44837559 21:43417679-43417679
4 SIK1 NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) SNV Pathogenic 190108 rs786205162 21:44837502-44837502 21:43417622-43417622
5 SIK1 NM_173354.5(SIK1):c.1906G>A (p.Gly636Ser) SNV Pathogenic 190109 rs786205163 21:44837493-44837493 21:43417613-43417613
6 AGPAT3 NC_000021.8:g.(?_44836602)_(45629566_?)del Deletion Pathogenic 830405 21:44836602-45629566
7 SIK1 NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) SNV Conflicting interpretations of pathogenicity 574251 rs369897512 21:44838906-44838906 21:43419026-43419026
8 SIK1 NM_173354.5(SIK1):c.2243G>A (p.Arg748His) SNV Conflicting interpretations of pathogenicity 476104 rs375516507 21:44836731-44836731 21:43416851-43416851
9 SIK1 NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) SNV Conflicting interpretations of pathogenicity 542710 rs34614061 21:44837465-44837465 21:43417585-43417585
10 SIK1 NM_173354.5(SIK1):c.1219T>C (p.Cys407Arg) SNV Uncertain significance 542708 rs746408860 21:44839259-44839259 21:43419379-43419379
11 SIK1 NM_173354.5(SIK1):c.365G>A (p.Ser122Asn) SNV Uncertain significance 542709 rs745541081 21:44841652-44841652 21:43421772-43421772
12 SIK1 NM_173354.5(SIK1):c.233T>C (p.Met78Thr) SNV Uncertain significance 566332 rs1569017480 21:44845327-44845327 21:43425447-43425447
13 SIK1 NM_173354.5(SIK1):c.1094G>A (p.Arg365Gln) SNV Uncertain significance 566342 rs780535115 21:44839764-44839764 21:43419884-43419884
14 SIK1 NM_173354.5(SIK1):c.2293G>T (p.Asp765Tyr) SNV Uncertain significance 568626 rs755238635 21:44836681-44836681 21:43416801-43416801
15 SIK1 NM_173354.5(SIK1):c.2074C>G (p.Pro692Ala) SNV Uncertain significance 568636 rs1569013982 21:44836900-44836900 21:43417020-43417020
16 SIK1 NM_173354.5(SIK1):c.1745-2A>G SNV Uncertain significance 570900 rs1569014372 21:44837656-44837656 21:43417776-43417776
17 SIK1 NM_173354.5(SIK1):c.1031G>A (p.Arg344Gln) SNV Uncertain significance 572301 rs778543025 21:44839827-44839827 21:43419947-43419947
18 SIK1 NM_173354.5(SIK1):c.862G>T (p.Ala288Ser) SNV Uncertain significance 542700 rs376891838 21:44840224-44840224 21:43420344-43420344
19 SIK1 NM_173354.5(SIK1):c.709C>G (p.Leu237Val) SNV Uncertain significance 542701 rs1555891321 21:44840929-44840929 21:43421049-43421049
20 SIK1 NM_173354.5(SIK1):c.1418C>A (p.Thr473Asn) SNV Uncertain significance 542703 rs1555891084 21:44838945-44838945 21:43419065-43419065
21 SIK1 NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu) SNV Uncertain significance 542705 rs765573579 21:44838313-44838313 21:43418433-43418433
22 SIK1 NM_173354.5(SIK1):c.1259C>A (p.Pro420Gln) SNV Uncertain significance 476079 rs181611369 21:44839104-44839104 21:43419224-43419224
23 SIK1 NM_173354.5(SIK1):c.2242C>T (p.Arg748Cys) SNV Uncertain significance 476103 rs768404256 21:44836732-44836732 21:43416852-43416852
24 SIK1 NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu) SNV Uncertain significance 476090 rs373576665 21:44838280-44838280 21:43418400-43418400
25 SIK1 NM_173354.5(SIK1):c.1139C>A (p.Ser380Tyr) SNV Uncertain significance 476078 rs1555891146 21:44839339-44839339 21:43419459-43419459
26 SIK1 NM_173354.5(SIK1):c.1843G>A (p.Ala615Thr) SNV Uncertain significance 577708 rs777106028 21:44837556-44837556 21:43417676-43417676
27 SIK1 NM_173354.5(SIK1):c.1393C>T (p.Pro465Ser) SNV Uncertain significance 578393 rs1569015116 21:44838970-44838970 21:43419090-43419090
28 SIK1 NM_173354.5(SIK1):c.1843_1844insT (p.Ala615fs) Insertion Uncertain significance 582156 rs1474186338 21:44837555-44837556 21:43417675-43417676
29 SIK1 NM_173354.5(SIK1):c.1154G>A (p.Arg385Gln) SNV Uncertain significance 588526 rs545863305 21:44839324-44839324 21:43419444-43419444
30 SIK1 NC_000021.9:g.(?_43413515)_(43428122_?)dup Duplication Uncertain significance 832823 21:44833395-44848002
31 SIK1 NM_173354.5(SIK1):c.748G>A (p.Asp250Asn) SNV Uncertain significance 641577 rs1601509582 21:44840890-44840890 21:43421010-43421010
32 SIK1 NM_173354.5(SIK1):c.404C>T (p.Ser135Leu) SNV Uncertain significance 641808 rs780569607 21:44841613-44841613 21:43421733-43421733
33 SIK1 NM_173354.5(SIK1):c.1289G>A (p.Arg430Gln) SNV Uncertain significance 643499 rs143953116 21:44839074-44839074 21:43419194-43419194
34 SIK1 NM_173354.5(SIK1):c.1870G>A (p.Gly624Ser) SNV Uncertain significance 643532 rs544350928 21:44837529-44837529 21:43417649-43417649
35 SIK1 NM_173354.5(SIK1):c.409G>A (p.Val137Met) SNV Uncertain significance 645895 rs141382693 21:44841608-44841608 21:43421728-43421728
36 SIK1 NM_173354.5(SIK1):c.1208C>G (p.Ala403Gly) SNV Uncertain significance 647070 rs1601508504 21:44839270-44839270 21:43419390-43419390
37 SIK1 NM_173354.5(SIK1):c.599A>G (p.Tyr200Cys) SNV Uncertain significance 647292 rs1601509903 21:44841148-44841148 21:43421268-43421268
38 SIK1 NM_173354.5(SIK1):c.1259C>T (p.Pro420Leu) SNV Uncertain significance 444577 rs181611369 21:44839104-44839104 21:43419224-43419224
39 SIK1 NM_173354.5(SIK1):c.2132C>G (p.Pro711Arg) SNV Uncertain significance 648382 rs1601506378 21:44836842-44836842 21:43416962-43416962
40 SIK1 NM_173354.5(SIK1):c.2256_2257delinsAT (p.Ala753Ser) Indel Uncertain significance 650557 rs1601506211 21:44836717-44836718 21:43416837-43416838
41 SIK1 NM_173354.5(SIK1):c.436G>A (p.Val146Ile) SNV Uncertain significance 652011 rs762885522 21:44841581-44841581 21:43421701-43421701
42 SIK1 NM_173354.5(SIK1):c.1260G>A (p.Pro420=) SNV Uncertain significance 654402 rs776487308 21:44839103-44839103 21:43419223-43419223
43 SIK1 NM_173354.5(SIK1):c.380G>A (p.Arg127Gln) SNV Uncertain significance 655297 rs111703795 21:44841637-44841637 21:43421757-43421757
44 SIK1 NM_173354.5(SIK1):c.232A>T (p.Met78Leu) SNV Uncertain significance 655523 rs1601511650 21:44845328-44845328 21:43425448-43425448
45 SIK1 NM_173354.5(SIK1):c.1463-7C>G SNV Uncertain significance 658167 rs142866662 21:44838428-44838428 21:43418548-43418548
46 SIK1 NM_173354.5(SIK1):c.273+6G>C SNV Uncertain significance 658515 rs1352249378 21:44845281-44845281 21:43425401-43425401
47 SIK1 NM_173354.5(SIK1):c.1915G>A (p.Gly639Ser) SNV Uncertain significance 659253 rs780476959 21:44837484-44837484 21:43417604-43417604
48 SIK1 NM_173354.5(SIK1):c.1568C>T (p.Thr523Ile) SNV Uncertain significance 659351 rs1389573601 21:44838316-44838316 21:43418436-43418436
49 SIK1 NM_173354.5(SIK1):c.1918G>A (p.Gly640Ser) SNV Uncertain significance 664797 rs763499196 21:44837481-44837481 21:43417601-43417601
50 SIK1 NM_173354.5(SIK1):c.118G>A (p.Val40Met) SNV Uncertain significance 834763 21:44845941-44845941 21:43426061-43426061

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 30:

73
# 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

Expression for Developmental and Epileptic Encephalopathy 30

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 30.

Pathways for Developmental and Epileptic Encephalopathy 30

GO Terms for Developmental and Epileptic Encephalopathy 30

Molecular functions related to Developmental and Epileptic Encephalopathy 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 8.62 SIK1 AGPAT3

Sources for Developmental and Epileptic Encephalopathy 30

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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