DEE21
MCID: DVL048
MIFTS: 29

Developmental and Epileptic Encephalopathy 21 (DEE21)

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 21

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 21:

Name: Developmental and Epileptic Encephalopathy 21 57 12
Epileptic Encephalopathy, Early Infantile, 21 57 72 70
Early Infantile Epileptic Encephalopathy 21 12 29 6
Eiee21 57 72
Dee21 57 12
Epileptic Encephalopathy, Early Infantile, 21; Eiee21 57
Encephalopathy, Epileptic, Early Infantile, Type 21 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of seizures in first months of life


HPO:

31
developmental and epileptic encephalopathy 21:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080443
OMIM® 57 615833
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036
UMLS 70 C4014430

Summaries for Developmental and Epileptic Encephalopathy 21

OMIM® : 57 Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by Alazami et al., 2014 and Alsahli et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (615833) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 21, also known as epileptic encephalopathy, early infantile, 21, is related to early infantile epileptic encephalopathy and encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 21 is NECAP1 (NECAP Endocytosis Associated 1). Affiliated tissues include brain and eye, and related phenotypes are global developmental delay and hypertonia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has material basis in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Developmental and Epileptic Encephalopathy 21

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 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 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 93
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

Diseases related to Developmental and Epileptic Encephalopathy 21 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 9.9
2 encephalopathy 9.9
3 ohtahara syndrome 9.9
4 undetermined early-onset epileptic encephalopathy 9.9

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 21

Human phenotypes related to Developmental and Epileptic Encephalopathy 21:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 hypertonia 31 HP:0001276
3 decreased fetal movement 31 HP:0001558
4 feeding difficulties 31 HP:0011968
5 generalized hypotonia 31 HP:0001290
6 brain atrophy 31 HP:0012444
7 muscular hypotonia of the trunk 31 HP:0008936
8 epileptic encephalopathy 31 HP:0200134
9 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
epileptic encephalopathy
axial hypotonia
delayed psychomotor development, profound
appendicular hypertonia
more
Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
abnormal eye movements
poor visual fixation

Head And Neck Head:
lack of head control

Respiratory:
weak cry

Abdomen Gastrointestinal:
poor feeding

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM®:

615833 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 21

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 21

Genetic Tests for Developmental and Epileptic Encephalopathy 21

Genetic tests related to Developmental and Epileptic Encephalopathy 21:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 21 29 NECAP1

Anatomical Context for Developmental and Epileptic Encephalopathy 21

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 21:

40
Brain, Eye

Publications for Developmental and Epileptic Encephalopathy 21

Articles related to Developmental and Epileptic Encephalopathy 21:

(showing 3, show less)
# Title Authors PMID Year
1
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. 57 6 61
30626896 2019
2
Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy. 57 6
30525121 2018
3
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy. 57 6
24399846 2014

Variations for Developmental and Epileptic Encephalopathy 21

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 21:

6 (showing 39, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NECAP1 NM_015509.4(NECAP1):c.301+1G>A SNV Pathogenic 929499 GRCh37: 12:8242896-8242896
GRCh38: 12:8090300-8090300
2 NECAP1 NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) SNV Pathogenic/Likely pathogenic 133341 rs587777420 GRCh37: 12:8242578-8242578
GRCh38: 12:8089982-8089982
3 NECAP1 NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys) SNV Uncertain significance 475006 rs374365372 GRCh37: 12:8242862-8242862
GRCh38: 12:8090266-8090266
4 NECAP1 NM_015509.4(NECAP1):c.791A>G (p.Asn264Ser) SNV Uncertain significance 475009 rs145154841 GRCh37: 12:8248649-8248649
GRCh38: 12:8096053-8096053
5 NECAP1 NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala) SNV Uncertain significance 541849 rs973563199 GRCh37: 12:8242570-8242570
GRCh38: 12:8089974-8089974
6 NECAP1 NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys) SNV Uncertain significance 541850 rs1555168520 GRCh37: 12:8234894-8234894
GRCh38: 12:8082298-8082298
7 NECAP1 NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser) SNV Uncertain significance 541851 rs1555169422 GRCh37: 12:8248235-8248235
GRCh38: 12:8095639-8095639
8 NECAP1 NM_015509.4(NECAP1):c.383+3G>T SNV Uncertain significance 541852 rs1555169180 GRCh37: 12:8244449-8244449
GRCh38: 12:8091853-8091853
9 NECAP1 NM_015509.4(NECAP1):c.629T>C (p.Val210Ala) SNV Uncertain significance 934296 GRCh37: 12:8245604-8245604
GRCh38: 12:8093008-8093008
10 NECAP1 NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys) SNV Uncertain significance 967446 GRCh37: 12:8245324-8245324
GRCh38: 12:8092728-8092728
11 NECAP1 NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser) SNV Uncertain significance 975913 GRCh37: 12:8234972-8234972
GRCh38: 12:8082376-8082376
12 NECAP1 NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg) SNV Uncertain significance 649588 rs764080699 GRCh37: 12:8245544-8245544
GRCh38: 12:8092948-8092948
13 NECAP1 NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu) SNV Uncertain significance 652939 rs368565295 GRCh37: 12:8245330-8245330
GRCh38: 12:8092734-8092734
14 NECAP1 NM_015509.4(NECAP1):c.56T>C (p.Val19Ala) SNV Uncertain significance 575282 rs780390533 GRCh37: 12:8234940-8234940
GRCh38: 12:8082344-8082344
15 NECAP1 NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala) SNV Uncertain significance 660441 rs752197558 GRCh37: 12:8248247-8248247
GRCh38: 12:8095651-8095651
16 NECAP1 NM_015509.4(NECAP1):c.569C>T (p.Pro190Leu) SNV Uncertain significance 1005148 GRCh37: 12:8245544-8245544
GRCh38: 12:8092948-8092948
17 NECAP1 NM_015509.4(NECAP1):c.251C>T (p.Thr84Met) SNV Uncertain significance 475005 rs137964265 GRCh37: 12:8242845-8242845
GRCh38: 12:8090249-8090249
18 NECAP1 NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu) SNV Uncertain significance 847619 GRCh37: 12:8248652-8248652
GRCh38: 12:8096056-8096056
19 NECAP1 NM_015509.4(NECAP1):c.437G>T (p.Arg146Leu) SNV Uncertain significance 964789 GRCh37: 12:8245325-8245325
GRCh38: 12:8092729-8092729
20 NECAP1 NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe) SNV Uncertain significance 971576 GRCh37: 12:8248273-8248273
GRCh38: 12:8095677-8095677
21 NECAP1 NM_015509.4(NECAP1):c.305G>A (p.Arg102His) SNV Uncertain significance 1020404 GRCh37: 12:8244368-8244368
GRCh38: 12:8091772-8091772
22 NECAP1 NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu) SNV Uncertain significance 1023652 GRCh37: 12:8248278-8248278
GRCh38: 12:8095682-8095682
23 NECAP1 NM_015509.4(NECAP1):c.83A>T (p.Asn28Ile) SNV Uncertain significance 1024154 GRCh37: 12:8234967-8234967
GRCh38: 12:8082371-8082371
24 overlap with 46 genes NC_000012.11:g.(?_6945914)_(9027627_?)dup Duplication Uncertain significance 1004385 GRCh37: 12:6945914-9027627
GRCh38:
25 NECAP1 NM_015509.4(NECAP1):c.136C>T (p.Arg46Cys) SNV Uncertain significance 1026219 GRCh37: 12:8242572-8242572
GRCh38: 12:8089976-8089976
26 NECAP1 NM_015509.4(NECAP1):c.244G>A (p.Val82Met) SNV Uncertain significance 1026898 GRCh37: 12:8242838-8242838
GRCh38: 12:8090242-8090242
27 NECAP1 NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) SNV Uncertain significance 475007 rs765855460 GRCh37: 12:8245556-8245556
GRCh38: 12:8092960-8092960
28 NECAP1 NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser) SNV Uncertain significance 848573 GRCh37: 12:8242808-8242808
GRCh38: 12:8090212-8090212
29 NECAP1 NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn) SNV Uncertain significance 935636 GRCh37: 12:8244415-8244415
GRCh38: 12:8091819-8091819
30 NECAP1 NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) SNV Uncertain significance 970123 GRCh37: 12:8245375-8245375
GRCh38: 12:8092779-8092779
31 NECAP1 NM_015509.4(NECAP1):c.812A>G (p.Asn271Ser) SNV Uncertain significance 1041851 GRCh37: 12:8248670-8248670
GRCh38: 12:8096074-8096074
32 NECAP1 NM_015509.4(NECAP1):c.797C>T (p.Ala266Val) SNV Uncertain significance 1047283 GRCh37: 12:8248655-8248655
GRCh38: 12:8096059-8096059
33 overlap with 10 genes NC_000012.12:g.(?_7689858)_(8096110_?)dup Duplication Uncertain significance 832123 GRCh37: 12:7842454-8248706
GRCh38:
34 NECAP1 NM_015509.4(NECAP1):c.709G>C (p.Val237Leu) SNV Likely benign 723183 rs752918460 GRCh37: 12:8248229-8248229
GRCh38: 12:8095633-8095633
35 NECAP1 NM_015509.4(NECAP1):c.570G>T (p.Pro190=) SNV Likely benign 759221 rs148192941 GRCh37: 12:8245545-8245545
GRCh38: 12:8092949-8092949
36 NECAP1 NM_015509.4(NECAP1):c.114A>G (p.Leu38=) SNV Likely benign 771258 rs141295769 GRCh37: 12:8242550-8242550
GRCh38: 12:8089954-8089954
37 NECAP1 NM_015509.4(NECAP1):c.252G>A (p.Thr84=) SNV Likely benign 541853 rs149036367 GRCh37: 12:8242846-8242846
GRCh38: 12:8090250-8090250
38 NECAP1 NM_015509.4(NECAP1):c.69G>A (p.Pro23=) SNV Benign 783103 rs149738880 GRCh37: 12:8234953-8234953
GRCh38: 12:8082357-8082357
39 NECAP1 NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn) SNV Benign 475008 rs2231752 GRCh37: 12:8245645-8245645
GRCh38: 12:8093049-8093049

Expression for Developmental and Epileptic Encephalopathy 21

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 21.

Pathways for Developmental and Epileptic Encephalopathy 21

GO Terms for Developmental and Epileptic Encephalopathy 21

Sources for Developmental and Epileptic Encephalopathy 21

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
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35 IUPHAR
36 KEGG
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
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69 Tocris
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71 UMLS via Orphanet
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