EIEE29
MCID: EPL153
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 29 (EIEE29)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 29

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 29:

Name: Epileptic Encephalopathy, Early Infantile, 29 58 76 30 6
Eiee29 58 76
Encephalopathy, Epileptic, Early Infantile, Type 29 41
Early Infantile Epileptic Encephalopathy 29 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
seizure onset in first months of life
two unrelated families have been reported (last curated april 2015)


HPO:

33
epileptic encephalopathy, early infantile, 29:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 29

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 29: 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. EIEE29 patients manifest severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and persistently deficient myelination.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 29, also known as eiee29, is related to charcot-marie-tooth disease type 2n. An important gene associated with Epileptic Encephalopathy, Early Infantile, 29 is AARS (Alanyl-TRNA Synthetase). Related phenotypes are nystagmus and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the AARS gene on chromosome 16q22.

Description from OMIM: 616339

Related Diseases for Epileptic Encephalopathy, Early Infantile, 29

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 29 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 2n 9.7 AARS EXOSC6

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 29

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 29:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 seizures 33 HP:0001250
3 spasticity 33 HP:0001257
4 failure to thrive 33 HP:0001508
5 chorea 33 HP:0002072
6 global developmental delay 33 HP:0001263
7 microcephaly 33 HP:0000252
8 short stature 33 HP:0004322
9 peripheral neuropathy 33 HP:0009830
10 intrauterine growth retardation 33 HP:0001511
11 hip dislocation 33 HP:0002827
12 areflexia 33 HP:0001284
13 blepharospasm 33 HP:0000643
14 generalized hypotonia 33 HP:0001290
15 encephalopathy 33 HP:0001298
16 cerebral atrophy 33 HP:0002059
17 epileptic encephalopathy 33 HP:0200134
18 cns hypomyelination 33 HP:0003429

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
blepharospasm

Growth Other:
failure to thrive
intrauterine growth retardation

Neurologic Peripheral Nervous System:
peripheral neuropathy
areflexia

Skeletal Feet:
vertical tali

Head And Neck Head:
microcephaly (-4 sd)

Skeletal Pelvis:
hip dislocation, congenital

Neurologic Central Nervous System:
spasticity
chorea
dystonia
encephalopathy
hypomyelination
more
Growth Height:
short stature

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
gastrointestinal reflux

Head And Neck Mouth:
orobuccal dyskinesia

Clinical features from OMIM:

616339

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 29

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 29

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 29

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 29:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 29 30 AARS

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 29

Publications for Epileptic Encephalopathy, Early Infantile, 29

Variations for Epileptic Encephalopathy, Early Infantile, 29

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 29:

76
# Symbol AA change Variation ID SNP ID
1 AARS p.Lys81Thr VAR_073719 rs786205157
2 AARS p.Arg751Gly VAR_073720 rs143370729
3 AARS p.Gly913Asp VAR_079703 rs369774476

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 29:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AARS NM_001605.2(AARS): c.242A> C (p.Lys81Thr) single nucleotide variant Likely pathogenic rs786205157 GRCh37 Chromosome 16, 70310960: 70310960
2 AARS NM_001605.2(AARS): c.242A> C (p.Lys81Thr) single nucleotide variant Likely pathogenic rs786205157 GRCh38 Chromosome 16, 70277057: 70277057
3 AARS NM_001605.2(AARS): c.2251A> G (p.Arg751Gly) single nucleotide variant Uncertain significance rs143370729 GRCh38 Chromosome 16, 70255763: 70255763
4 AARS NM_001605.2(AARS): c.2251A> G (p.Arg751Gly) single nucleotide variant Uncertain significance rs143370729 GRCh37 Chromosome 16, 70289666: 70289666
5 AARS NM_001605.2(AARS): c.385C> G (p.Pro129Ala) single nucleotide variant Uncertain significance rs370622071 GRCh37 Chromosome 16, 70310483: 70310483
6 AARS NM_001605.2(AARS): c.385C> G (p.Pro129Ala) single nucleotide variant Uncertain significance rs370622071 GRCh38 Chromosome 16, 70276580: 70276580
7 AARS NM_001605.2(AARS): c.2873T> C (p.Phe958Ser) single nucleotide variant Likely pathogenic rs1555539157 GRCh37 Chromosome 16, 70286658: 70286658
8 AARS NM_001605.2(AARS): c.2873T> C (p.Phe958Ser) single nucleotide variant Likely pathogenic rs1555539157 GRCh38 Chromosome 16, 70252755: 70252755

Expression for Epileptic Encephalopathy, Early Infantile, 29

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 29.

Pathways for Epileptic Encephalopathy, Early Infantile, 29

GO Terms for Epileptic Encephalopathy, Early Infantile, 29

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 8.62 AARS EXOSC6

Sources for Epileptic Encephalopathy, Early Infantile, 29

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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