DEE86
MCID: DVL108
MIFTS: 19

Developmental and Epileptic Encephalopathy 86 (DEE86)

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 86

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 86:

Name: Developmental and Epileptic Encephalopathy 86 57 12
Epileptic Encephalopathy, Early Infantile, 86 57 72
Eiee86 57 72
Dee86 57 12
Epileptic Encephalopathy, Early Infantile, 86; Eiee86 57
Developmental and Epileptic Encephalopathy, 86 6
Early Infantile Epileptic Encephalopathy 86 12

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
onset of seizures in first year of life
seizures may be difficult to control with medication
two sibs, born of consanguineous parents, have been reported (last curated june 2020)


HPO:

31
developmental and epileptic encephalopathy 86:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0112220
OMIM® 57 618910
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 86

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 86: 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. EIEE86 inheritance is autosomal recessive.

MalaCards based summary : Developmental and Epileptic Encephalopathy 86, is also known as epileptic encephalopathy, early infantile, 86. An important gene associated with Developmental and Epileptic Encephalopathy 86 is DALRD3 (DALR Anticodon Binding Domain Containing 3). Affiliated tissues include brain, and related phenotypes are microcephaly and absent speech

Disease Ontology : 12 A developmental and epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in DALRD2 on chromosome 3p21.31.

More information from OMIM: 618910 PS308350

Related Diseases for Developmental and Epileptic Encephalopathy 86

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 86

Human phenotypes related to Developmental and Epileptic Encephalopathy 86:

31 (showing 11, show less)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 absent speech 31 very rare (1%) HP:0001344
3 dystonia 31 very rare (1%) HP:0001332
4 severe global developmental delay 31 very rare (1%) HP:0011344
5 oligohydramnios 31 very rare (1%) HP:0001562
6 small for gestational age 31 very rare (1%) HP:0001518
7 gastrostomy tube feeding in infancy 31 very rare (1%) HP:0011471
8 generalized hypotonia 31 very rare (1%) HP:0001290
9 generalized amyotrophy 31 very rare (1%) HP:0003700
10 cns hypomyelination 31 very rare (1%) HP:0003429
11 myoclonic seizure 31 very rare (1%) HP:0032794

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
epileptic encephalopathy
myoclonic seizures
hypotonia
eeg abnormalities
more
Muscle Soft Tissue:
muscle wasting

Head And Neck Head:
microcephaly (1 patient)

Head And Neck Eyes:
no visual tracking (1 patient)
optic disc pallor (1 patient)

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Abdomen Gastrointestinal:
poor feeding
tube feeding

Head And Neck Face:
dysmorphic facies, subtle

Prenatal Manifestations Placenta And Umbilical Cord:
placental insufficiency

Clinical features from OMIM®:

618910 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 86

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 86

Genetic Tests for Developmental and Epileptic Encephalopathy 86

Anatomical Context for Developmental and Epileptic Encephalopathy 86

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 86:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 86

Articles related to Developmental and Epileptic Encephalopathy 86:

(showing 1, show less)
# Title Authors PMID Year
1
DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification. 57 6
32427860 2020

Variations for Developmental and Epileptic Encephalopathy 86

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 86:

6 (showing 1, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DALRD3 NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter) SNV Pathogenic 918077 GRCh37: 3:49053669-49053669
GRCh38: 3:49016236-49016236

Expression for Developmental and Epileptic Encephalopathy 86

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 86.

Pathways for Developmental and Epileptic Encephalopathy 86

GO Terms for Developmental and Epileptic Encephalopathy 86

Sources for Developmental and Epileptic Encephalopathy 86

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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