EIEE21
MCID: EPL127
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 21 (EIEE21)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 21

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 21:

Name: Epileptic Encephalopathy, Early Infantile, 21 58 76 74
Early Infantile Epileptic Encephalopathy 21 12 30 6
Eiee21 58 76
Encephalopathy, Epileptic, Early Infantile, Type 21 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
one consanguineous family has been reported (last curated june 2014)


HPO:

33
epileptic encephalopathy, early infantile, 21:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 21

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 21: A severe disease characterized by intractable seizures, profound global developmental delay, and persistent severe axial hypotonia as well as appendicular hypertonia.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 21, also known as early infantile epileptic encephalopathy 21, is related to early infantile epileptic encephalopathy and encephalopathy. An important gene associated with Epileptic Encephalopathy, Early Infantile, 21 is NECAP1 (NECAP Endocytosis Associated 1). Affiliated tissues include brain, liver and eye, and related phenotypes are brain atrophy and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.

Description from OMIM: 615833

Related Diseases for Epileptic Encephalopathy, Early Infantile, 21

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 21 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 10.1
2 encephalopathy 10.1

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 21

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 21:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 33 HP:0012444
2 seizures 33 HP:0001250
3 global developmental delay 33 HP:0001263
4 hypertonia 33 HP:0001276
5 feeding difficulties 33 HP:0011968
6 epileptic encephalopathy 33 HP:0200134
7 decreased fetal movement 33 HP:0001558
8 generalized hypotonia 33 HP:0001290
9 muscular hypotonia of the trunk 33 HP:0008936

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
epileptic encephalopathy
axial hypotonia
delayed psychomotor development, profound
appendicular hypertonia
generalized slowing seen on eeg
more
Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
lack of head control

Muscle Soft Tissue:
hypotonia

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM:

615833

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 21

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 21

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 21

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 21:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 21 30 NECAP1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 21

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 21:

42
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 21

Articles related to Epileptic Encephalopathy, Early Infantile, 21:

# Title Authors Year
1
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. ( 24399846 )
2014

Variations for Epileptic Encephalopathy, Early Infantile, 21

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 21:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 NECAP1 NM_015509.3(NECAP1): c.142C> T (p.Arg48Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777420 GRCh37 Chromosome 12, 8242578: 8242578
2 NECAP1 NM_015509.3(NECAP1): c.142C> T (p.Arg48Ter) single nucleotide variant Pathogenic/Likely pathogenic rs587777420 GRCh38 Chromosome 12, 8089982: 8089982
3 NECAP1 NM_015509.3(NECAP1): c.581A> G (p.Lys194Arg) single nucleotide variant Uncertain significance rs765855460 GRCh37 Chromosome 12, 8245556: 8245556
4 NECAP1 NM_015509.3(NECAP1): c.581A> G (p.Lys194Arg) single nucleotide variant Uncertain significance rs765855460 GRCh38 Chromosome 12, 8092960: 8092960
5 NECAP1 NM_015509.3(NECAP1): c.670G> A (p.Asp224Asn) single nucleotide variant Benign rs2231752 GRCh37 Chromosome 12, 8245645: 8245645
6 NECAP1 NM_015509.3(NECAP1): c.670G> A (p.Asp224Asn) single nucleotide variant Benign rs2231752 GRCh38 Chromosome 12, 8093049: 8093049
7 NECAP1 NM_015509.3(NECAP1): c.268C> T (p.Arg90Cys) single nucleotide variant Uncertain significance rs374365372 GRCh38 Chromosome 12, 8090266: 8090266
8 NECAP1 NM_015509.3(NECAP1): c.268C> T (p.Arg90Cys) single nucleotide variant Uncertain significance rs374365372 GRCh37 Chromosome 12, 8242862: 8242862
9 NECAP1 NM_015509.3(NECAP1): c.251C> T (p.Thr84Met) single nucleotide variant Uncertain significance rs137964265 GRCh38 Chromosome 12, 8090249: 8090249
10 NECAP1 NM_015509.3(NECAP1): c.251C> T (p.Thr84Met) single nucleotide variant Uncertain significance rs137964265 GRCh37 Chromosome 12, 8242845: 8242845
11 NECAP1 NM_015509.3(NECAP1): c.791A> G (p.Asn264Ser) single nucleotide variant Uncertain significance rs145154841 GRCh38 Chromosome 12, 8096053: 8096053
12 NECAP1 NM_015509.3(NECAP1): c.791A> G (p.Asn264Ser) single nucleotide variant Uncertain significance rs145154841 GRCh37 Chromosome 12, 8248649: 8248649
13 NECAP1 NM_015509.3(NECAP1): c.10G> A (p.Glu4Lys) single nucleotide variant Uncertain significance rs1555168520 GRCh37 Chromosome 12, 8234894: 8234894
14 NECAP1 NM_015509.3(NECAP1): c.10G> A (p.Glu4Lys) single nucleotide variant Uncertain significance rs1555168520 GRCh38 Chromosome 12, 8082298: 8082298
15 NECAP1 NM_015509.3(NECAP1): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs149036367 GRCh38 Chromosome 12, 8090250: 8090250
16 NECAP1 NM_015509.3(NECAP1): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs149036367 GRCh37 Chromosome 12, 8242846: 8242846
17 NECAP1 NM_015509.3(NECAP1): c.383+3G> T single nucleotide variant Uncertain significance rs1555169180 GRCh38 Chromosome 12, 8091853: 8091853
18 NECAP1 NM_015509.3(NECAP1): c.383+3G> T single nucleotide variant Uncertain significance rs1555169180 GRCh37 Chromosome 12, 8244449: 8244449
19 NECAP1 NM_015509.3(NECAP1): c.715A> T (p.Thr239Ser) single nucleotide variant Uncertain significance rs1555169422 GRCh38 Chromosome 12, 8095639: 8095639
20 NECAP1 NM_015509.3(NECAP1): c.715A> T (p.Thr239Ser) single nucleotide variant Uncertain significance rs1555169422 GRCh37 Chromosome 12, 8248235: 8248235
21 NECAP1 NM_015509.3(NECAP1): c.134G> C (p.Gly45Ala) single nucleotide variant Uncertain significance rs973563199 GRCh37 Chromosome 12, 8242570: 8242570
22 NECAP1 NM_015509.3(NECAP1): c.134G> C (p.Gly45Ala) single nucleotide variant Uncertain significance rs973563199 GRCh38 Chromosome 12, 8089974: 8089974
23 NECAP1 NM_015509.3(NECAP1): c.56T> C (p.Val19Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 8082344: 8082344
24 NECAP1 NM_015509.3(NECAP1): c.56T> C (p.Val19Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 8234940: 8234940

Expression for Epileptic Encephalopathy, Early Infantile, 21

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 21.

Pathways for Epileptic Encephalopathy, Early Infantile, 21

GO Terms for Epileptic Encephalopathy, Early Infantile, 21

Sources for Epileptic Encephalopathy, Early Infantile, 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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