DEE21
MCID: DVL048
MIFTS: 28

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
Early Infantile Epileptic Encephalopathy 21 12 29 6
Epileptic Encephalopathy, Early Infantile, 21 57 73
Eiee21 57 73
Dee21 57 12
Epileptic Encephalopathy, Early Infantile, 21; Eiee21 57
Encephalopathy, Epileptic, Early Infantile, Type 21 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-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:



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-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 21, also known as early infantile epileptic encephalopathy 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 : 73 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 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

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

# 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 (show all 9)
# 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-Mar-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-Mar-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:

# Title Authors PMID Year
1
A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21. 6 61 57
30626896 2019
2
Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy. 6 57
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 (show all 30)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NECAP1 NM_015509.4(NECAP1):c.301+1G>A SNV Pathogenic 929499 12:8242896-8242896 12:8090300-8090300
2 NECAP1 NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter) SNV Pathogenic/Likely pathogenic 133341 rs587777420 12:8242578-8242578 12:8089982-8089982
3 NECAP1 NM_015509.4(NECAP1):c.251C>T (p.Thr84Met) SNV Uncertain significance 475005 rs137964265 12:8242845-8242845 12:8090249-8090249
4 NECAP1 NM_015509.4(NECAP1):c.268C>T (p.Arg90Cys) SNV Uncertain significance 475006 rs374365372 12:8242862-8242862 12:8090266-8090266
5 NECAP1 NM_015509.4(NECAP1):c.791A>G (p.Asn264Ser) SNV Uncertain significance 475009 rs145154841 12:8248649-8248649 12:8096053-8096053
6 NECAP1 NM_015509.4(NECAP1):c.581A>G (p.Lys194Arg) SNV Uncertain significance 475007 rs765855460 12:8245556-8245556 12:8092960-8092960
7 NECAP1 NM_015509.4(NECAP1):c.134G>C (p.Gly45Ala) SNV Uncertain significance 541849 rs973563199 12:8242570-8242570 12:8089974-8089974
8 NECAP1 NM_015509.4(NECAP1):c.10G>A (p.Glu4Lys) SNV Uncertain significance 541850 rs1555168520 12:8234894-8234894 12:8082298-8082298
9 NECAP1 NM_015509.4(NECAP1):c.715A>T (p.Thr239Ser) SNV Uncertain significance 541851 rs1555169422 12:8248235-8248235 12:8095639-8095639
10 NECAP1 NM_015509.4(NECAP1):c.383+3G>T SNV Uncertain significance 541852 rs1555169180 12:8244449-8244449 12:8091853-8091853
11 NECAP1 NM_015509.4(NECAP1):c.56T>C (p.Val19Ala) SNV Uncertain significance 575282 rs780390533 12:8234940-8234940 12:8082344-8082344
12 NECAP1 NM_015509.4(NECAP1):c.569C>G (p.Pro190Arg) SNV Uncertain significance 649588 rs764080699 12:8245544-8245544 12:8092948-8092948
13 NECAP1 NM_015509.4(NECAP1):c.442A>G (p.Lys148Glu) SNV Uncertain significance 652939 rs368565295 12:8245330-8245330 12:8092734-8092734
14 NECAP1 NM_015509.4(NECAP1):c.727A>G (p.Thr243Ala) SNV Uncertain significance 660441 rs752197558 12:8248247-8248247 12:8095651-8095651
15 NECAP1 NM_015509.4(NECAP1):c.629T>C (p.Val210Ala) SNV Uncertain significance 934296 12:8245604-8245604 12:8093008-8093008
16 NECAP1 NM_015509.4(NECAP1):c.352G>A (p.Asp118Asn) SNV Uncertain significance 935636 12:8244415-8244415 12:8091819-8091819
17 NECAP1 NM_015509.4(NECAP1):c.437G>T (p.Arg146Leu) SNV Uncertain significance 964789 12:8245325-8245325 12:8092729-8092729
18 NECAP1 NM_015509.4(NECAP1):c.436C>T (p.Arg146Cys) SNV Uncertain significance 967446 12:8245324-8245324 12:8092728-8092728
19 NECAP1 NM_015509.4(NECAP1):c.487A>G (p.Ile163Val) SNV Uncertain significance 970123 12:8245375-8245375 12:8092779-8092779
20 NECAP1 NM_015509.4(NECAP1):c.753G>T (p.Leu251Phe) SNV Uncertain significance 971576 12:8248273-8248273 12:8095677-8095677
21 NECAP1 NM_015509.4(NECAP1):c.88G>A (p.Gly30Ser) SNV Uncertain significance 975913 12:8234972-8234972 12:8082376-8082376
22 CLEC4C NC_000012.12:g.(?_7689858)_(8096110_?)dup Duplication Uncertain significance 832123 12:7842454-8248706
23 NECAP1 NM_015509.4(NECAP1):c.794A>T (p.Gln265Leu) SNV Uncertain significance 847619 12:8248652-8248652 12:8096056-8096056
24 NECAP1 NM_015509.4(NECAP1):c.214G>T (p.Ala72Ser) SNV Uncertain significance 848573 12:8242808-8242808 12:8090212-8090212
25 NECAP1 NM_015509.4(NECAP1):c.709G>C (p.Val237Leu) SNV Likely benign 723183 rs752918460 12:8248229-8248229 12:8095633-8095633
26 NECAP1 NM_015509.4(NECAP1):c.570G>T (p.Pro190=) SNV Likely benign 759221 rs148192941 12:8245545-8245545 12:8092949-8092949
27 NECAP1 NM_015509.4(NECAP1):c.114A>G (p.Leu38=) SNV Likely benign 771258 rs141295769 12:8242550-8242550 12:8089954-8089954
28 NECAP1 NM_015509.4(NECAP1):c.252G>A (p.Thr84=) SNV Likely benign 541853 rs149036367 12:8242846-8242846 12:8090250-8090250
29 NECAP1 NM_015509.4(NECAP1):c.69G>A (p.Pro23=) SNV Benign 783103 rs149738880 12:8234953-8234953 12:8082357-8082357
30 NECAP1 NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn) SNV Benign 475008 rs2231752 12:8245645-8245645 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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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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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