EIEE29
MCID: EPL153
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 29 (EIEE29)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 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). Affiliated tissues include liver and eye, and related phenotypes are nystagmus and seizures

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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy 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 18)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 seizures 32 HP:0001250
3 spasticity 32 HP:0001257
4 failure to thrive 32 HP:0001508
5 chorea 32 HP:0002072
6 global developmental delay 32 HP:0001263
7 microcephaly 32 HP:0000252
8 short stature 32 HP:0004322
9 peripheral neuropathy 32 HP:0009830
10 intrauterine growth retardation 32 HP:0001511
11 hip dislocation 32 HP:0002827
12 areflexia 32 HP:0001284
13 blepharospasm 32 HP:0000643
14 generalized hypotonia 32 HP:0001290
15 encephalopathy 32 HP:0001298
16 cerebral atrophy 32 HP:0002059
17 epileptic encephalopathy 32 HP:0200134
18 cns hypomyelination 32 HP:0003429

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

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 29:

41
Liver, Eye

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
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 GRCh37 Chromosome 16, 70286658: 70286658
8 AARS NM_001605.2(AARS): c.2873T> C (p.Phe958Ser) single nucleotide variant Likely pathogenic 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

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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