DEE72
MCID: DVL096
MIFTS: 24

Developmental and Epileptic Encephalopathy 72 (DEE72)

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Aliases & Classifications for Developmental and Epileptic Encephalopathy 72

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 72:

Name: Developmental and Epileptic Encephalopathy 72 57 11 73
Dee72 57 11 73
Developmental and Epileptic Encephalopathy, 72 28 5
Epileptic Encephalopathy, Early Infantile, 72 57 73
Eiee72 57 73
Encephalopathy, Developmental and Epileptic, 72 38
Early Infantile Epileptic Encephalopathy 72 11

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
variable severity
de novo mutation
two unrelated patients have been reported (last curated april 2019)


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 08-Dec-2022)

MalaCards based summary: Developmental and Epileptic Encephalopathy 72, is also known as dee72. 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

UniProtKB/Swiss-Prot: 73 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. DEE72 is an autosomal dominant form with variable severity and onset in infancy.

Disease Ontology: 11 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.

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 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 94 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 95 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 Developmental and Epileptic Encephalopathy 6b
Developmental and Epileptic Encephalopathy 96 Developmental and Epileptic Encephalopathy 97
Developmental and Epileptic Encephalopathy 98 Developmental and Epileptic Encephalopathy 99
Developmental and Epileptic Encephalopathy 100 Developmental and Epileptic Encephalopathy 101
Developmental and Epileptic Encephalopathy 102 Developmental and Epileptic Encephalopathy 103
Developmental and Epileptic Encephalopathy 104 Developmental and Epileptic Encephalopathy 106
Developmental and Epileptic Encephalopathy 107 Developmental and Epileptic Encephalopathy 108
Developmental and Epileptic Encephalopathy 109 Developmental and Epileptic Encephalopathy 110
Developmental and Epileptic Encephalopathy 25 Grin2d-Related Developmental and Epileptic Encephalopathy

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 72

Human phenotypes related to Developmental and Epileptic Encephalopathy 72:

30 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 30 Very rare (1%) HP:0002015
2 global developmental delay 30 Very rare (1%) HP:0001263
3 infantile spasms 30 Very rare (1%) HP:0012469
4 astigmatism 30 Very rare (1%) HP:0000483
5 poor eye contact 30 Very rare (1%) HP:0000817
6 cerebral atrophy 30 Very rare (1%) HP:0002059
7 hypoplasia of the corpus callosum 30 Very rare (1%) HP:0002079
8 cerebral visual impairment 30 Very rare (1%) HP:0100704
9 esotropia 30 Very rare (1%) HP:0000565
10 hypsarrhythmia 30 Very rare (1%) HP:0002521
11 inability to walk 30 Very rare (1%) HP:0002540
12 hyperkinetic movements 30 Very rare (1%) HP:0002487
13 delayed cns myelination 30 Very rare (1%) HP:0002188
14 delayed ability to sit 30 Very rare (1%) HP:0025336
15 delayed ability to walk 30 Very rare (1%) HP:0031936
16 periventricular white matter hyperintensities 30 Very rare (1%) HP:0030891
17 axial hypotonia 30 Very rare (1%) HP:0008936
18 epileptic encephalopathy 30 HP:0200134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Gastrointestinal:
dysphagia

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

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

Clinical features from OMIM®:

618374 (Updated 08-Dec-2022)

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 28 NEUROD2

Anatomical Context for Developmental and Epileptic Encephalopathy 72

Organs/tissues related to Developmental and Epileptic Encephalopathy 72:

MalaCards : 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. 57 5
30323019 2019

Variations for Developmental and Epileptic Encephalopathy 72

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 72:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEUROD2 NM_006160.4(NEUROD2):c.388G>C (p.Glu130Gln) SNV Pathogenic
625139 rs1323339153 GRCh37: 17:37762465-37762465
GRCh38: 17:39606212-39606212
2 NEUROD2 NM_006160.4(NEUROD2):c.401T>C (p.Met134Thr) SNV Pathogenic
625140 rs1567841596 GRCh37: 17:37762452-37762452
GRCh38: 17:39606199-39606199
3 NEUROD2 NM_006160.4(NEUROD2):c.169C>T (p.Pro57Ser) SNV Uncertain Significance
1696587 GRCh37: 17:37762684-37762684
GRCh38: 17:39606431-39606431
4 NEUROD2 NM_006160.4(NEUROD2):c.488T>C (p.Leu163Pro) SNV Uncertain Significance
1327115 GRCh37: 17:37762365-37762365
GRCh38: 17:39606112-39606112
5 NEUROD2 NM_006160.4(NEUROD2):c.211G>A (p.Ala71Thr) SNV Uncertain Significance
1701692 GRCh37: 17:37762642-37762642
GRCh38: 17:39606389-39606389
6 NEUROD2 NM_006160.4(NEUROD2):c.940G>T (p.Asp314Tyr) SNV Uncertain Significance
1706450 GRCh37: 17:37761913-37761913
GRCh38: 17:39605660-39605660

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 rs1323339153
2 NEUROD2 p.Met134Thr VAR_082115 rs1567841596

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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