DEE54
MCID: DVL078
MIFTS: 27

Developmental and Epileptic Encephalopathy 54 (DEE54)

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 54

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 54:

Name: Developmental and Epileptic Encephalopathy 54 57 12
Epileptic Encephalopathy, Early Infantile, 54 57 73 29 6
Eiee54 57 73
Dee54 57 12
Epileptic Encephalopathy, Early Infantile, 54; Eiee54 57
Encephalopathy, Epileptic, Early Infantile, Type 54 39
Early Infantile Epileptic Encephalopathy 54 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
de novo mutation
seizures are refractory to treatment
febrile seizures may occur in infancy, followed by afebrile seizures later


HPO:

31
developmental and epileptic encephalopathy 54:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 54

OMIM® : 57 Developmental and epileptic encephalopathy-54 (DEE54) is a severe neurodevelopmental disorder characterized by delayed psychomotor development, early-onset refractory seizures that are often initially febrile but later afebrile, and severe intellectual disability (summary by de Kovel et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617391) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 54, is also known as epileptic encephalopathy, early infantile, 54. An important gene associated with Developmental and Epileptic Encephalopathy 54 is HNRNPU (Heterogeneous Nuclear Ribonucleoprotein U). Related phenotypes are intellectual disability and eeg abnormality

Disease Ontology : 12 A developmental and epileptic encephalopathy chraracterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has material basis in heterozygous mutation in the HNRNPU gene on chromosome 1q44.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 54: 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 54

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 54

Human phenotypes related to Developmental and Epileptic Encephalopathy 54:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 eeg abnormality 31 HP:0002353
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 absent speech 31 HP:0001344
6 ventriculomegaly 31 HP:0002119
7 generalized hypotonia 31 HP:0001290
8 epileptic encephalopathy 31 HP:0200134
9 delayed myelination 31 HP:0012448
10 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
epileptic encephalopathy
delayed myelination
enlarged ventricles
mental retardation
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Face:
dysmorphic features, nonspecific (in some patients)

Muscle Soft Tissue:
hypotonia

Head And Neck Head:
small head circumference

Clinical features from OMIM®:

617391 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 54

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 54

Genetic Tests for Developmental and Epileptic Encephalopathy 54

Genetic tests related to Developmental and Epileptic Encephalopathy 54:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 54 29 HNRNPU

Anatomical Context for Developmental and Epileptic Encephalopathy 54

Publications for Developmental and Epileptic Encephalopathy 54

Articles related to Developmental and Epileptic Encephalopathy 54:

# Title Authors PMID Year
1
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 57 6
27652284 2016
2
De novo mutations in moderate or severe intellectual disability. 57 6
25356899 2014
3
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 6 57
23708187 2013
4
De novo mutations in epileptic encephalopathies. 57
23934111 2013
5
Clinical application of exome sequencing in undiagnosed genetic conditions. 57
22581936 2012

Variations for Developmental and Epileptic Encephalopathy 54

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 54:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HNRNPU NM_031844.3(HNRNPU):c.1812dup (p.Val605fs) Duplication Pathogenic 393466 rs1057524916 1:245019858-245019859 1:244856556-244856557
2 HNRNPU NM_031844.3(HNRNPU):c.2471_2472delinsGA (p.Tyr824Ter) Indel Pathogenic 393464 rs1057524914 1:245017758-245017759 1:244854456-244854457
3 HNRNPU NM_031844.3(HNRNPU):c.511C>T (p.Gln171Ter) SNV Pathogenic 393465 rs1057524915 1:245027099-245027099 1:244863797-244863797
4 HNRNPU NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) Indel Pathogenic 431120 rs1135401794 1:245027594-245027594 1:244864292-244864292
5 HNRNPU NM_031844.3(HNRNPU):c.481C>T (p.Gln161Ter) SNV Pathogenic 446393 rs1553283899 1:245027129-245027129 1:244863827-244863827
6 HNRNPU NM_031844.3(HNRNPU):c.1171_1172TG[1] (p.Cys391_Glu392delinsTer) Microsatellite Pathogenic 620055 1:245022087-245022088 1:244858785-244858786
7 HNRNPU NM_031844.3(HNRNPU):c.2425-2A>G SNV Pathogenic 559858 rs1553281924 1:245017807-245017807 1:244854505-244854505
8 HNRNPU NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs) Duplication Pathogenic 801643 rs1573330458 1:245020091-245020092 1:244856789-244856790
9 HNRNPU NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) Deletion Pathogenic 267738 rs779453109 1:245026950-245026959 1:244863648-244863657
10 HNRNPU NM_031844.3(HNRNPU):c.575C>A (p.Ser192Ter) SNV Pathogenic 976700 1:245027035-245027035 1:244863733-244863733
11 HNRNPU NM_031844.3(HNRNPU):c.1664del (p.Leu555fs) Deletion Pathogenic 977138 1:245020109-245020109 1:244856807-244856807
12 HNRNPU NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) Deletion Likely pathogenic 495241 rs1553283916 1:245027208-245027209 1:244863906-244863907
13 HNRNPU NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter) SNV Likely pathogenic 801644 rs1573337948 1:245027195-245027195 1:244863893-244863893
14 EFCAB2 46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter) Complex Likely pathogenic 561259 1:244867200-246816211
15 HNRNPU NM_031844.3(HNRNPU):c.1230+5G>A SNV Likely pathogenic 489084 rs1553282723 1:245022026-245022026 1:244858724-244858724
16 HNRNPU NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) SNV Likely pathogenic 224141 rs869312701 1:245027543-245027543 1:244864241-244864241
17 HNRNPU NM_031844.3(HNRNPU):c.1288G>A (p.Val430Ile) SNV Uncertain significance 406725 rs772732188 1:245021519-245021519 1:244858217-244858217
18 HNRNPU NM_031844.3(HNRNPU):c.365_367AGG[3] (p.Glu125del) Microsatellite Uncertain significance 446390 rs747108904 1:245027234-245027236 1:244863932-244863934
19 HNRNPU NM_031844.3(HNRNPU):c.1081A>G (p.Ile361Val) SNV Uncertain significance 446396 rs200962317 1:245022613-245022613 1:244859311-244859311
20 HNRNPU NM_031844.3(HNRNPU):c.1642G>A (p.Asp548Asn) SNV Uncertain significance 446391 rs1553282397 1:245020131-245020131 1:244856829-244856829
21 HNRNPU NM_031844.3(HNRNPU):c.380C>T (p.Ala127Val) SNV Uncertain significance 446394 rs776690627 1:245027230-245027230 1:244863928-244863928
22 HNRNPU NM_031844.3(HNRNPU):c.2408A>G (p.Asn803Ser) SNV Uncertain significance 446395 rs1553282000 1:245018291-245018291 1:244854989-244854989
23 HNRNPU NM_031844.3(HNRNPU):c.1156A>G (p.Ile386Val) SNV Uncertain significance 446392 rs745485838 1:245022105-245022105 1:244858803-244858803
24 HNRNPU NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp) SNV Uncertain significance 406726 rs373039242 1:245021488-245021488 1:244858186-244858186
25 HNRNPU NM_031844.3(HNRNPU):c.1368A>C (p.Glu456Asp) SNV Uncertain significance 625955 rs1558187433 1:245021439-245021439 1:244858137-244858137
26 HNRNPU NM_031844.2(HNRNPU):c.2166_2167+1delAGG Microsatellite Uncertain significance 532563 rs575582638 1:245019205-245019207 1:244855903-244855905
27 HNRNPU NM_031844.3(HNRNPU):c.1064A>T (p.Asp355Val) SNV Uncertain significance 975973 1:245022630-245022630 1:244859328-244859328
28 HNRNPU NM_031844.3(HNRNPU):c.622C>T (p.Gln208Ter) SNV Uncertain significance 946361 1:245026988-245026988 1:244863686-244863686
29 HNRNPU NM_031844.3(HNRNPU):c.133G>C (p.Glu45Gln) SNV Uncertain significance 915384 1:245027477-245027477 1:244864175-244864175
30 HNRNPU NM_031844.3(HNRNPU):c.470G>A (p.Gly157Glu) SNV Uncertain significance 931451 1:245027140-245027140 1:244863838-244863838
31 HNRNPU NM_031844.3(HNRNPU):c.465G>T (p.Glu155Asp) SNV Uncertain significance 932065 1:245027145-245027145 1:244863843-244863843
32 HNRNPU NM_031844.3(HNRNPU):c.124C>T (p.Leu42=) SNV Likely benign 446398 rs1364614921 1:245027486-245027486 1:244864184-244864184
33 HNRNPU NM_031844.3(HNRNPU):c.336C>T (p.Ala112=) SNV Likely benign 446401 rs753169165 1:245027274-245027274 1:244863972-244863972
34 HNRNPU NM_031844.3(HNRNPU):c.1710T>C (p.Ala570=) SNV Likely benign 446403 rs1553282382 1:245020063-245020063 1:244856761-244856761
35 HNRNPU NM_031844.3(HNRNPU):c.1272T>C (p.Asn424=) SNV Likely benign 414098 rs768082015 1:245021535-245021535 1:244858233-244858233
36 HNRNPU NM_031844.3(HNRNPU):c.981T>C (p.Tyr327=) SNV Likely benign 414107 rs1060504189 1:245023673-245023673 1:244860371-244860371
37 HNRNPU NM_031844.3(HNRNPU):c.2247C>T (p.Ile749=) SNV Likely benign 414102 rs1060504188 1:245018831-245018831 1:244855529-244855529
38 HNRNPU NM_031844.3(HNRNPU):c.429T>C (p.Asp143=) SNV Benign 446405 rs555895621 1:245027181-245027181 1:244863879-244863879
39 HNRNPU NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu) SNV not provided 578810 rs778010676 1:245021548-245021548 1:244858246-244858246

Expression for Developmental and Epileptic Encephalopathy 54

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 54.

Pathways for Developmental and Epileptic Encephalopathy 54

GO Terms for Developmental and Epileptic Encephalopathy 54

Cellular components related to Developmental and Epileptic Encephalopathy 54 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.62 HNRNPU EFCAB2

Sources for Developmental and Epileptic Encephalopathy 54

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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