Developmental and Epileptic Encephalopathy 54 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases Liver diseases Ear diseases Respiratory diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0080418

OMIM® ⁵⁷ 617391

OMIM Phenotypic Series ⁵⁷ PS308350

MeSH ⁴⁴ D013036

MedGen ⁴¹ C4479319 CN240910

SNOMED-CT via HPO ⁶⁸ 128613002 135810007 224958001 more

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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.

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Related Diseases for Developmental and Epileptic Encephalopathy 54

Diseases in the Developmental and Epileptic Encephalopathy family:

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Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 54

Human phenotypes related to Developmental and Epileptic Encephalopathy 54:

³¹ (show all 10)

#	Description	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)

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Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 54

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

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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

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Anatomical Context for Developmental and Epileptic Encephalopathy 54

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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	de Kovel CG...Koeleman BP	27652284	2016
2	De novo mutations in moderate or severe intellectual disability. ⁵⁷ ⁶	Hamdan FF...Michaud JL	25356899	2014
3	Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. ⁶ ⁵⁷	Carvill GL...Mefford HC	23708187	2013
4	De novo mutations in epileptic encephalopathies. ⁵⁷	Epi4K Consortium...Winawer MR	23934111	2013
5	Clinical application of exome sequencing in undiagnosed genetic conditions. ⁵⁷	Need AC...Goldstein DB	22581936	2012

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Genes for Developmental and Epileptic Encephalopathy 54

Genes related to Developmental and Epileptic Encephalopathy 54 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HNRNPU	Heterogeneous Nuclear Ribonucleoprotein U	Protein Coding	1025	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ Likely pathogenic ⁶	25356899 23708187 27652284
2	EFCAB2	EF-Hand Calcium Binding Domain 2	Protein Coding	25	Likely pathogenic ⁶

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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

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Expression for Developmental and Epileptic Encephalopathy 54

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

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Pathways for Developmental and Epileptic Encephalopathy 54

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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

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Sources for Developmental and Epileptic Encephalopathy 54

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁹ Cosmic

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁸ NCBI Bookshelf

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Developmental and Epileptic Encephalopathy 54 (DEE54)

Aliases & Classifications for Developmental and Epileptic Encephalopathy 54

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 54:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Developmental and Epileptic Encephalopathy 54

Related Diseases for Developmental and Epileptic Encephalopathy 54

Diseases in the Developmental and Epileptic Encephalopathy family:

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 54

Human phenotypes related to Developmental and Epileptic Encephalopathy 54:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 54

Genetic Tests for Developmental and Epileptic Encephalopathy 54

Genetic tests related to Developmental and Epileptic Encephalopathy 54:

Anatomical Context for Developmental and Epileptic Encephalopathy 54

Publications for Developmental and Epileptic Encephalopathy 54

Articles related to Developmental and Epileptic Encephalopathy 54:

Genes for Developmental and Epileptic Encephalopathy 54

Genes related to Developmental and Epileptic Encephalopathy 54 (1 elite genes):

Variations for Developmental and Epileptic Encephalopathy 54

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 54:

Expression 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:

Sources for Developmental and Epileptic Encephalopathy 54