DEE93
MCID: DVL116
MIFTS: 24

Developmental and Epileptic Encephalopathy 93 (DEE93)

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 93

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 93:

Name: Developmental and Epileptic Encephalopathy 93 57
Epileptic Encephalopathy, Infantile or Early Childhood 3 29 6
Epileptic Encephalopathy, Infantile or Early Childhood, 3 72
Iecee3 72
Dee93 57

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
de novo mutation
onset of seizures in the first years of life
four unrelated patients have been reported (last curated june 2018)


HPO:

31
developmental and epileptic encephalopathy 93:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 93

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, infantile or early childhood, 3: 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. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non- ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability.

MalaCards based summary : Developmental and Epileptic Encephalopathy 93, is also known as epileptic encephalopathy, infantile or early childhood 3. An important gene associated with Developmental and Epileptic Encephalopathy 93 is ATP6V1A (ATPase H+ Transporting V1 Subunit A). Affiliated tissues include eye and brain, and related phenotypes are microcephaly and intellectual disability

OMIM® : 57 Developmental and epileptic encephalopathy (DEE93) is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. (618012) (Updated 05-Apr-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 93

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 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 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 93

Human phenotypes related to Developmental and Epileptic Encephalopathy 93:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 intellectual disability 31 HP:0001249
3 hyperreflexia 31 HP:0001347
4 global developmental delay 31 HP:0001263
5 optic atrophy 31 HP:0000648
6 absent speech 31 HP:0001344
7 iris coloboma 31 HP:0000612
8 hypoplasia of the corpus callosum 31 HP:0002079
9 cerebellar atrophy 31 HP:0001272
10 spastic tetraparesis 31 HP:0001285
11 cerebral atrophy 31 HP:0002059
12 generalized hypotonia 31 HP:0001290
13 inability to walk 31 HP:0002540
14 hypermetropia 31 HP:0000540
15 hypsarrhythmia 31 HP:0002521
16 epileptic encephalopathy 31 HP:0200134
17 cns hypomyelination 31 HP:0003429
18 delayed ability to walk 31 HP:0031936
19 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
hyperreflexia
cerebellar atrophy
cerebral atrophy
inability to walk
hypsarrhythmia
more
Muscle Soft Tissue:
hypotonia

Growth Other:
poor overall growth (in some patients)

Head And Neck Eyes:
optic atrophy
iris coloboma
hypermetropia
poor or absent visual fixation

Head And Neck Head:
microcephaly (in some patients)

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

Clinical features from OMIM®:

618012 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 93

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 93

Genetic Tests for Developmental and Epileptic Encephalopathy 93

Genetic tests related to Developmental and Epileptic Encephalopathy 93:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Infantile or Early Childhood 3 29 ATP6V1A

Anatomical Context for Developmental and Epileptic Encephalopathy 93

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 93:

40
Eye, Brain

Publications for Developmental and Epileptic Encephalopathy 93

Articles related to Developmental and Epileptic Encephalopathy 93:

# Title Authors PMID Year
1
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. 6 57
29668857 2018

Variations for Developmental and Epileptic Encephalopathy 93

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 93:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V1A NM_001690.4(ATP6V1A):c.298G>T (p.Asp100Tyr) SNV Pathogenic 545524 rs1553709855 GRCh37: 3:113503157-113503157
GRCh38: 3:113784310-113784310
2 ATP6V1A NM_001690.4(ATP6V1A):c.1045G>A (p.Asp349Asn) SNV Pathogenic 545525 rs1553710664 GRCh37: 3:113513775-113513775
GRCh38: 3:113794928-113794928
3 ATP6V1A NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg) SNV Pathogenic 545526 rs1553709380 GRCh37: 3:113497680-113497680
GRCh38: 3:113778833-113778833
4 ATP6V1A NM_001690.4(ATP6V1A):c.1112A>G (p.Asp371Gly) SNV Pathogenic 545527 rs1553710694 GRCh37: 3:113513937-113513937
GRCh38: 3:113795090-113795090
5 ATP6V1A NM_001690.4(ATP6V1A):c.967A>G (p.Arg323Gly) SNV Pathogenic 973261 GRCh37: 3:113508666-113508666
GRCh38: 3:113789819-113789819
6 ATP6V1A NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr) SNV Likely pathogenic 584428 rs1559759089 GRCh37: 3:113513948-113513948
GRCh38: 3:113795101-113795101
7 ATP6V1A NM_001690.4(ATP6V1A):c.1649T>C (p.Met550Thr) SNV Likely pathogenic 1029520 GRCh37: 3:113524260-113524260
GRCh38: 3:113805413-113805413
8 ATP6V1A NM_001690.4(ATP6V1A):c.370G>A (p.Val124Met) SNV Uncertain significance 995951 GRCh37: 3:113503229-113503229
GRCh38: 3:113784382-113784382
9 ATP6V1A NM_001690.4(ATP6V1A):c.1043C>G (p.Ala348Gly) SNV Uncertain significance 995952 GRCh37: 3:113513773-113513773
GRCh38: 3:113794926-113794926
10 ATP6V1A NM_001690.4(ATP6V1A):c.1532T>C (p.Val511Ala) SNV Uncertain significance 996901 GRCh37: 3:113522467-113522467
GRCh38: 3:113803620-113803620

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 93:

72
# Symbol AA change Variation ID SNP ID
1 ATP6V1A p.Asp100Tyr VAR_080996 rs155370985
2 ATP6V1A p.Asp349Asn VAR_080998 rs155371066

Expression for Developmental and Epileptic Encephalopathy 93

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 93.

Pathways for Developmental and Epileptic Encephalopathy 93

GO Terms for Developmental and Epileptic Encephalopathy 93

Sources for Developmental and Epileptic Encephalopathy 93

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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