DEE29
MCID: DVL055
MIFTS: 37

Developmental and Epileptic Encephalopathy 29 (DEE29)

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 29

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 29:

Name: Developmental and Epileptic Encephalopathy 29 57 12
Epileptic Encephalopathy, Early Infantile, 29 57 73 29 6
Early Infantile Epileptic Encephalopathy 29 12 15
Eiee29 57 73
Dee29 57 12
Epileptic Encephalopathy, Early Infantile, 29; Eiee29 57
Encephalopathy, Developmental and Epileptic, Type 29 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
developmental and epileptic encephalopathy 29:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 29

OMIM® : 57 Developmental and epileptic encephalopathy-29 (DEE29) is an autosomal recessive neurologic disorder characterized by the onset of refractory myoclonic seizures in the first months of life. Affected individuals have poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation (summary by Simons et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616339) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 29, also known as epileptic encephalopathy, early infantile, 29, is related to deafness, autosomal recessive 89 and charcot-marie-tooth disease, axonal, type 2i. An important gene associated with Developmental and Epileptic Encephalopathy 29 is AARS1 (Alanyl-TRNA Synthetase 1), and among its related pathways/superpathways are Gene Expression and tRNA Aminoacylation. Related phenotypes are spasticity and failure to thrive

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has material basis in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Developmental and Epileptic Encephalopathy 29

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 57 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 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

Diseases related to Developmental and Epileptic Encephalopathy 29 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 89 10.1 RARS2 KARS1
2 charcot-marie-tooth disease, axonal, type 2i 10.1 GARS1 AARS1
3 infantile liver failure syndrome 10.0 RARS2 MARS2 AARS1
4 combined oxidative phosphorylation deficiency 12 10.0 RARS2 MARS2 AARS1
5 charcot-marie-tooth disease, axonal, type 2b2 10.0 GARS1 AARS1
6 mitochondrial dna depletion syndrome 4a 10.0 RARS2 AARS1
7 charcot-marie-tooth disease, demyelinating, type 1b 10.0 YARS1 GARS1
8 combined oxidative phosphorylation deficiency 20 9.9 RARS2 KARS1 GARS1
9 charcot-marie-tooth disease, axonal, type 2u 9.9 WARS1 KARS1 GARS1
10 neuropathy, hereditary, with liability to pressure palsies 9.9 YARS1 GARS1 AARS1
11 pontocerebellar hypoplasia, type 6 9.9 RARS2 MARS2 KARS1 AARS1
12 rigid spine muscular dystrophy 1 9.8 YARS1 AARS1
13 charcot-marie-tooth disease and deafness 9.8 YARS1 GARS1 AARS1
14 charcot-marie-tooth disease, recessive intermediate b 9.7 YARS1 KARS1 GARS1 AARS1
15 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.7 YARS1 GARS1 AARS1
16 tooth disease 9.7 YARS1 KARS1 GARS1 AARS1
17 charcot-marie-tooth disease, axonal, type 2n 9.7 YARS1 KARS1 GARS1 AARS1
18 charcot-marie-tooth disease intermediate type 9.7 YARS1 KARS1 GARS1 AARS1
19 charcot-marie-tooth disease, dominant intermediate c 9.7 YARS1 KARS1 GARS1 AARS1
20 autosomal dominant distal hereditary motor neuronopathy 9.7 YARS1 KARS1 GARS1 AARS1
21 charcot-marie-tooth disease, axonal, type 2d 9.7 YARS1 KARS1 GARS1 AARS1
22 neuronopathy, distal hereditary motor, type va 9.7 YARS1 KARS1 GARS1 AARS1
23 leukodystrophy, hypomyelinating, 3 9.7 AIMP2 AIMP1
24 neuromuscular disease 9.7 YARS1 KARS1 GARS1 AARS1
25 charcot-marie-tooth disease, axonal, type 2e 9.7 YARS1 KARS1 GARS1 AARS1
26 leukodystrophy 9.5 KARS1 AIMP2 AIMP1
27 perrault syndrome 9.4 YARS1 RARS2 MARS2 KARS1 GARS1 AARS1
28 charcot-marie-tooth disease 9.4 YARS1 WARS1 MARS2 KARS1 GARS1 AARS1
29 robinow syndrome 9.1 RARS2 KARS1 EEF1E1 AIMP2 AIMP1
30 robinow syndrome, autosomal recessive 1 8.6 YARS1 WARS1 RARS2 KARS1 EEF1E1 AIMP2

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 29:



Diseases related to Developmental and Epileptic Encephalopathy 29

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 29

Human phenotypes related to Developmental and Epileptic Encephalopathy 29:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 failure to thrive 31 HP:0001508
3 nystagmus 31 HP:0000639
4 chorea 31 HP:0002072
5 global developmental delay 31 HP:0001263
6 microcephaly 31 HP:0000252
7 short stature 31 HP:0004322
8 intrauterine growth retardation 31 HP:0001511
9 areflexia 31 HP:0001284
10 hip dislocation 31 HP:0002827
11 peripheral neuropathy 31 HP:0009830
12 blepharospasm 31 HP:0000643
13 encephalopathy 31 HP:0001298
14 cerebral atrophy 31 HP:0002059
15 generalized hypotonia 31 HP:0001290
16 epileptic encephalopathy 31 HP:0200134
17 cns hypomyelination 31 HP:0003429
18 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
chorea
dystonia
encephalopathy
hypomyelination
more
Head And Neck Eyes:
nystagmus
blepharospasm

Neurologic Peripheral Nervous System:
areflexia
peripheral neuropathy

Skeletal Feet:
vertical tali

Head And Neck Head:
microcephaly (-4 sd)

Skeletal Pelvis:
hip dislocation, congenital

Growth Other:
failure to thrive
intrauterine growth retardation

Growth Height:
short stature

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
gastrointestinal reflux

Head And Neck Mouth:
orobuccal dyskinesia

Clinical features from OMIM®:

616339 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 29:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.56 AARS1 AIMP1 GARS1 KARS1 MARS2 PYY
2 mortality/aging MP:0010768 9.32 AARS1 AIMP1 AIMP2 EEF1E1 GARS1 KARS1

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 29

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 29

Genetic Tests for Developmental and Epileptic Encephalopathy 29

Genetic tests related to Developmental and Epileptic Encephalopathy 29:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 29 29 AARS1

Anatomical Context for Developmental and Epileptic Encephalopathy 29

Publications for Developmental and Epileptic Encephalopathy 29

Articles related to Developmental and Epileptic Encephalopathy 29:

# Title Authors PMID Year
1
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect. 57 6
25817015 2015

Variations for Developmental and Epileptic Encephalopathy 29

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 29:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AARS1 NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) SNV Pathogenic 190102 rs786205157 16:70310960-70310960 16:70277057-70277057
2 AARS1 NM_001605.3(AARS1):c.988C>T (p.Arg330Ter) SNV Pathogenic 807355 rs758183257 16:70302257-70302257 16:70268354-70268354
3 AARS1 NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) SNV Pathogenic 190103 rs143370729 16:70289666-70289666 16:70255763-70255763
4 AARS1 NM_001605.2(AARS1):c.2873T>C (p.Phe958Ser) SNV Likely pathogenic 549676 rs1555539157 16:70286658-70286658 16:70252755-70252755
5 AARS1 NM_001605.2(AARS1):c.2738G>A (p.Gly913Asp) SNV Conflicting interpretations of pathogenicity 246598 rs369774476 16:70286793-70286793 16:70252890-70252890
6 AARS1 NM_001605.2(AARS1):c.385C>G (p.Pro129Ala) SNV Uncertain significance 246216 rs370622071 16:70310483-70310483 16:70276580-70276580
7 AARS1 NM_001605.2(AARS1):c.2186G>A (p.Arg729Gln) SNV Uncertain significance 246063 rs142850278 16:70289731-70289731 16:70255828-70255828
8 AARS1 NM_001605.3(AARS1):c.259G>A SNV Uncertain significance 449873 rs763757370 16:70310943-70310943 16:70277040-70277040
9 AARS1 NM_001605.3(AARS1):c.259G>A SNV Uncertain significance 449873 rs763757370 16:70310943-70310943 16:70277040-70277040

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 29:

73
# Symbol AA change Variation ID SNP ID
1 AARS1 p.Lys81Thr VAR_073719 rs786205157
2 AARS1 p.Arg751Gly VAR_073720 rs143370729
3 AARS1 p.Gly913Asp VAR_079703 rs369774476

Expression for Developmental and Epileptic Encephalopathy 29

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 29.

Pathways for Developmental and Epileptic Encephalopathy 29

Pathways related to Developmental and Epileptic Encephalopathy 29 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 YARS1 WARS1 RARS2 MARS2 KARS1 GARS1
2
Show member pathways
11.57 YARS1 WARS1 RARS2 MARS2 KARS1 GARS1

GO Terms for Developmental and Epileptic Encephalopathy 29

Cellular components related to Developmental and Epileptic Encephalopathy 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.86 YARS1 WARS1 KARS1 GARS1 EEF1E1 AIMP2
2 cytoplasm GO:0005737 9.81 YARS1 WARS1 RARS2 KARS1 GARS1 EEF1E1
3 mitochondrion GO:0005739 9.72 RARS2 MARS2 KARS1 GARS1 AARS1
4 mitochondrial matrix GO:0005759 9.26 RARS2 MARS2 KARS1 GARS1
5 aminoacyl-tRNA synthetase multienzyme complex GO:0017101 8.92 KARS1 EEF1E1 AIMP2 AIMP1

Biological processes related to Developmental and Epileptic Encephalopathy 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA aminoacylation for protein translation GO:0006418 9.65 YARS1 WARS1 RARS2 MARS2 KARS1 GARS1
2 translation GO:0006412 9.32 YARS1 WARS1 RARS2 MARS2 KARS1 GARS1
3 diadenosine tetraphosphate biosynthetic process GO:0015966 9.16 KARS1 GARS1

Molecular functions related to Developmental and Epileptic Encephalopathy 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.87 YARS1 WARS1 RARS2 MARS2 KARS1 GARS1
2 ATP binding GO:0005524 9.8 YARS1 WARS1 RARS2 MARS2 KARS1 GARS1
3 ligase activity GO:0016874 9.5 YARS1 WARS1 RARS2 MARS2 KARS1 GARS1
4 tRNA binding GO:0000049 9.46 YARS1 KARS1 AIMP1 AARS1
5 amino acid binding GO:0016597 9.37 KARS1 AARS1
6 aminoacyl-tRNA ligase activity GO:0004812 9.17 YARS1 WARS1 RARS2 MARS2 KARS1 GARS1

Sources for Developmental and Epileptic Encephalopathy 29

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