EIEE72
MCID: EPL237
MIFTS: 18

Epileptic Encephalopathy, Early Infantile, 72 (EIEE72)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 72

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 72:

Name: Epileptic Encephalopathy, Early Infantile, 72 58 6
Eiee72 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 58 618374

Summaries for Epileptic Encephalopathy, Early Infantile, 72

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 72, is also known as eiee72. An important gene associated with Epileptic Encephalopathy, Early Infantile, 72 is NEUROD2 (Neuronal Differentiation 2). Affiliated tissues include eye and liver.

Description from OMIM: 618374

Related Diseases for Epileptic Encephalopathy, Early Infantile, 72

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 72

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
dysphagia

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

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

Clinical features from OMIM:

618374

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 72

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 72

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 72

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 72

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 72:

42
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 72

Articles related to Epileptic Encephalopathy, Early Infantile, 72:

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

Variations for Epileptic Encephalopathy, Early Infantile, 72

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 72:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NEUROD2 NM_006160.4(NEUROD2): c.388G> C (p.Glu130Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 37762465: 37762465
2 NEUROD2 NM_006160.4(NEUROD2): c.388G> C (p.Glu130Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 39606212: 39606212
3 NEUROD2 NM_006160.4(NEUROD2): c.401T> C (p.Met134Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 39606199: 39606199
4 NEUROD2 NM_006160.4(NEUROD2): c.401T> C (p.Met134Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 37762452: 37762452

Expression for Epileptic Encephalopathy, Early Infantile, 72

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 72.

Pathways for Epileptic Encephalopathy, Early Infantile, 72

GO Terms for Epileptic Encephalopathy, Early Infantile, 72

Sources for Epileptic Encephalopathy, Early Infantile, 72

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
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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