DEE72
MCID: DVL096
MIFTS: 22

Developmental and Epileptic Encephalopathy 72 (DEE72)

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 72

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 72:

Name: Developmental and Epileptic Encephalopathy 72 57 12
Developmental and Epileptic Encephalopathy, 72 29 6
Epileptic Encephalopathy, Early Infantile, 72 57 73
Eiee72 57 73
Dee72 57 12
Epileptic Encephalopathy, Early Infantile, 72; Eiee72 57
Early Infantile Epileptic Encephalopathy 72 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
variable severity
de novo mutation
two unrelated patients have been reported (last curated april 2019)


HPO:

31
developmental and epileptic encephalopathy 72:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 72

OMIM® : 57 Developmental and epileptic encephalopathy-72 (DEE72) is neurologic disorder characterized by the onset of infantile spasms around 5 months of age. The seizures tend to be refractory to treatment. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills. Additional more variable features include hyperkinetic movements and cortical visual impairment (summary by Sega et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618374) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 72, is also known as developmental and epileptic encephalopathy, 72. An important gene associated with Developmental and Epileptic Encephalopathy 72 is NEUROD2 (Neuronal Differentiation 2). Affiliated tissues include eye, and related phenotypes are dysphagia and global developmental delay

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has material basis in heterozygous mutation in NEUROD2 on chromosome 17q12.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 72: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. EIEE72 is an autosomal dominant form with variable severity and onset in infancy.

Related Diseases for Developmental and Epileptic Encephalopathy 72

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 72

Human phenotypes related to Developmental and Epileptic Encephalopathy 72:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 dysphagia 31 HP:0002015
2 global developmental delay 31 HP:0001263
3 astigmatism 31 HP:0000483
4 hypoplasia of the corpus callosum 31 HP:0002079
5 poor eye contact 31 HP:0000817
6 cerebral atrophy 31 HP:0002059
7 muscular hypotonia of the trunk 31 HP:0008936
8 inability to walk 31 HP:0002540
9 cerebral visual impairment 31 HP:0100704
10 esotropia 31 HP:0000565
11 hypsarrhythmia 31 HP:0002521
12 epileptic encephalopathy 31 HP:0200134
13 hyperkinetic movements 31 HP:0002487
14 delayed ability to walk 31 HP:0031936
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Gastrointestinal:
dysphagia

Head And Neck Eyes:
astigmatism
poor eye contact
esotropia
cortical visual impairment

Neurologic Central Nervous System:
global developmental delay
cerebral atrophy
inability to walk
epileptic encephalopathy
hyperkinetic movements
more
Muscle Soft Tissue:
axial hypotonia

Clinical features from OMIM®:

618374 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 72

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 72

Genetic Tests for Developmental and Epileptic Encephalopathy 72

Genetic tests related to Developmental and Epileptic Encephalopathy 72:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 72 29 NEUROD2

Anatomical Context for Developmental and Epileptic Encephalopathy 72

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 72:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 72

Articles related to Developmental and Epileptic Encephalopathy 72:

# Title Authors PMID Year
1
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. 6 57
30323019 2019

Variations for Developmental and Epileptic Encephalopathy 72

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 72:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEUROD2 NM_006160.4(NEUROD2):c.388G>C (p.Glu130Gln) SNV Pathogenic 625139 rs1323339153 17:37762465-37762465 17:39606212-39606212
2 NEUROD2 NM_006160.4(NEUROD2):c.401T>C (p.Met134Thr) SNV Pathogenic 625140 rs1567841596 17:37762452-37762452 17:39606199-39606199

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 72:

73
# Symbol AA change Variation ID SNP ID
1 NEUROD2 p.Glu130Gln VAR_082114 rs132333915
2 NEUROD2 p.Met134Thr VAR_082115 rs156784159

Expression for Developmental and Epileptic Encephalopathy 72

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 72.

Pathways for Developmental and Epileptic Encephalopathy 72

GO Terms for Developmental and Epileptic Encephalopathy 72

Sources for Developmental and Epileptic Encephalopathy 72

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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