EIEE70
MCID: EPL234
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 70 (EIEE70)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 70

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 70:

Name: Epileptic Encephalopathy, Early Infantile, 70 58 76 6
Eiee70 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
de novo mutation
onset in first months of life
three unrelated patients have been reported (last curated january 2019)


HPO:

33
epileptic encephalopathy, early infantile, 70:
Onset and clinical course variable expressivity


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 70

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 70: A form of epileptic encephalopathy, a heterogeneous group of severe childhood 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. EIEE70 is an autosomal dominant form with onset in first months of life and variable severity.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 70, is also known as eiee70. An important gene associated with Epileptic Encephalopathy, Early Infantile, 70 is PHACTR1 (Phosphatase And Actin Regulator 1). Affiliated tissues include brain, liver and eye, and related phenotypes are spastic tetraparesis and brain imaging abnormality

Description from OMIM: 618298

Related Diseases for Epileptic Encephalopathy, Early Infantile, 70

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, 70

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 70:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 spastic tetraparesis 33 very rare (1%) HP:0001285
2 brain imaging abnormality 33 very rare (1%) HP:0410263
3 hypertelorism 33 HP:0000316
4 seizures 33 HP:0001250
5 global developmental delay 33 HP:0001263
6 ventriculomegaly 33 HP:0002119
7 cerebral cortical atrophy 33 HP:0002120
8 epileptic encephalopathy 33 HP:0200134
9 poor head control 33 HP:0002421
10 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
short eyebrows

Neurologic Central Nervous System:
global developmental delay
epileptic encephalopathy
poor head control
delayed myelination
enlarged ventricles
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Skeletal Spine:
scoliosis (1 patient)

Head And Neck Face:
dysmorphic facial features, mild (in some patients)

Head And Neck Ears:
low-set ears

Genitourinary External Genitalia Male:
cryptorchidism

Head And Neck Mouth:
small mouth

Head And Neck Head:
small head circumference

Skeletal:
joint contractures (1 patient)

Growth Height:
low normal height

Clinical features from OMIM:

618298

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 70

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 70

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 70

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 70

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 70:

42
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 70

Articles related to Epileptic Encephalopathy, Early Infantile, 70:

# Title Authors Year
1
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. ( 30256902 )
2018
2
Diagnostic exome sequencing in persons with severe intellectual disability. ( 23033978 )
2012

Variations for Epileptic Encephalopathy, Early Infantile, 70

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 70:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PHACTR1 NM_030948.3(PHACTR1): c.1561C> T (p.Arg521Cys) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 13283473: 13283473
2 PHACTR1 NM_030948.3(PHACTR1): c.1561C> T (p.Arg521Cys) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 13283705: 13283705
3 PHACTR1 NM_030948.3: c.1499T> C single nucleotide variant Pathogenic
4 PHACTR1 NM_030948.3(PHACTR1): c.1436A> T (p.Asn479Ile) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 13273136: 13273136
5 PHACTR1 NM_030948.3(PHACTR1): c.1436A> T (p.Asn479Ile) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 13272904: 13272904

Expression for Epileptic Encephalopathy, Early Infantile, 70

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 70.

Pathways for Epileptic Encephalopathy, Early Infantile, 70

GO Terms for Epileptic Encephalopathy, Early Infantile, 70

Sources for Epileptic Encephalopathy, Early Infantile, 70

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
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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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