DEE70
MCID: DVL094
MIFTS: 26

Developmental and Epileptic Encephalopathy 70 (DEE70)

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 70

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 70:

Name: Developmental and Epileptic Encephalopathy 70 57 12
Developmental and Epileptic Encephalopathy, 70 29 6
Epileptic Encephalopathy, Early Infantile, 70 57 73
Eiee70 57 73
Dee70 57 12
Epileptic Encephalopathy, Early Infantile, 70; Eiee70 57
Encephalopathy, Epileptic, Early Infantile, Type 70 39
Early Infantile Epileptic Encephalopathy 70 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
developmental and epileptic encephalopathy 70:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 70

OMIM® : 57 Developmental and epileptic encephalopathy-70 (DEE70) is neurologic disorder characterized by the onset of epileptic spasms or seizures in the first months of life. 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; intellectual impairment ranges from moderate to severe (summary by Hamada et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. (618298) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 70, is also known as developmental and epileptic encephalopathy, 70. An important gene associated with Developmental and Epileptic Encephalopathy 70 is PHACTR1 (Phosphatase And Actin Regulator 1). Affiliated tissues include brain, and related phenotypes are scoliosis and abnormal facial shape

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has material basis in heterozygous mutation in PHACTR1 on chromosome 6p24.1.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Developmental and Epileptic Encephalopathy 70

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 70

Human phenotypes related to Developmental and Epileptic Encephalopathy 70:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 very rare (1%) HP:0002650
2 abnormal facial shape 31 very rare (1%) HP:0001999
3 flexion contracture 31 very rare (1%) HP:0001371
4 spastic tetraparesis 31 very rare (1%) HP:0001285
5 brain imaging abnormality 31 very rare (1%) HP:0410263
6 global developmental delay 31 HP:0001263
7 hypertelorism 31 HP:0000316
8 microcephaly 31 HP:0000252
9 cryptorchidism 31 HP:0000028
10 low-set ears 31 HP:0000369
11 cerebral cortical atrophy 31 HP:0002120
12 narrow mouth 31 HP:0000160
13 ventriculomegaly 31 HP:0002119
14 poor head control 31 HP:0002421
15 generalized hypotonia 31 HP:0001290
16 hypsarrhythmia 31 HP:0002521
17 epileptic encephalopathy 31 HP:0200134
18 delayed myelination 31 HP:0012448
19 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
global developmental delay
poor head control
epileptic encephalopathy
delayed myelination
enlarged ventricles
more
Genitourinary External Genitalia Male:
cryptorchidism

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 Eyes:
hypertelorism
short eyebrows

Head And Neck Ears:
low-set ears

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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 70

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 70

Genetic Tests for Developmental and Epileptic Encephalopathy 70

Genetic tests related to Developmental and Epileptic Encephalopathy 70:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 70 29 PHACTR1

Anatomical Context for Developmental and Epileptic Encephalopathy 70

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 70:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 70

Articles related to Developmental and Epileptic Encephalopathy 70:

# Title Authors PMID Year
1
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects. 6 57
30256902 2018
2
Diagnostic exome sequencing in persons with severe intellectual disability. 6 57
23033978 2012

Variations for Developmental and Epileptic Encephalopathy 70

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 70:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D7-LOC100130357 NM_001318809.1(TBC1D7-LOC100130357):c.40-15638G>A SNV Pathogenic 617490 rs748743403 6:13283705-13283705 6:13283473-13283473
2 TBC1D7-LOC100130357 NM_030948.6(PHACTR1):c.1499T>C (p.Leu500Pro) SNV Pathogenic 617491 6:13278551-13278551 6:13278319-13278319
3 TBC1D7-LOC100130357 NM_001318809.1(TBC1D7-LOC100130357):c.40-5069T>A SNV Pathogenic 617492 rs1562103192 6:13273136-13273136 6:13272904-13272904
4 PHACTR1 NM_030948.6(PHACTR1):c.1256G>C (p.Cys419Ser) SNV Likely benign 983134 6:13230290-13230290 6:13230058-13230058

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 70:

73
# Symbol AA change Variation ID SNP ID
1 PHACTR1 p.Arg521Cys VAR_069379 rs748743403
2 PHACTR1 p.Asn479Ile VAR_081810 rs156210319
3 PHACTR1 p.Leu500Pro VAR_081811 rs156211440

Expression for Developmental and Epileptic Encephalopathy 70

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 70.

Pathways for Developmental and Epileptic Encephalopathy 70

GO Terms for Developmental and Epileptic Encephalopathy 70

Sources for Developmental and Epileptic Encephalopathy 70

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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