MCID: EPL153
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 29

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 29

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

Name: Epileptic Encephalopathy, Early Infantile, 29 57 75 29 6
Eiee29 57 75
Encephalopathy, Epileptic, Early Infantile, Type 29 40

Characteristics:

OMIM:

57
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:

32
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 : 75 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, is also known as eiee29. An important gene associated with Epileptic Encephalopathy, Early Infantile, 29 is AARS (Alanyl-TRNA Synthetase). Related phenotypes are microcephaly and nystagmus

Description from OMIM: 616339

Related Diseases for Epileptic Encephalopathy, Early Infantile, 29

Diseases in the 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 29

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 nystagmus 32 HP:0000639
3 blepharospasm 32 HP:0000643
4 spasticity 32 HP:0001257
5 global developmental delay 32 HP:0001263
6 areflexia 32 HP:0001284
7 generalized hypotonia 32 HP:0001290
8 encephalopathy 32 HP:0001298
9 failure to thrive 32 HP:0001508
10 intrauterine growth retardation 32 HP:0001511
11 cerebral atrophy 32 HP:0002059
12 chorea 32 HP:0002072
13 hip dislocation 32 HP:0002827
14 cns hypomyelination 32 HP:0003429
15 short stature 32 HP:0004322
16 peripheral neuropathy 32 HP:0009830
17 epileptic encephalopathy 32 HP:0200134

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 29 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:

75
# 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

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

Sources for Epileptic Encephalopathy, Early Infantile, 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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