EIEE75
MCID: EPL240
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 75 (EIEE75)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 75

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 75:

Name: Epileptic Encephalopathy, Early Infantile, 75 56 73 29 6
Eiee75 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
early death may occur
onset in first months of life


HPO:

31
epileptic encephalopathy, early infantile, 75:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 75

OMIM : 56 Early infantile epileptic encephalopathy-75 (EIEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients usually have global developmental delay before the onset of seizures, and thereafter achieve few milestones. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by Yin et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618437)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 75, is also known as eiee75. An important gene associated with Epileptic Encephalopathy, Early Infantile, 75 is PARS2 (Prolyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include liver, brain and cerebellum, and related phenotypes are global developmental delay and feeding difficulties in infancy

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 75: 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. EIEE75 is an autosomal recessive form characterized by onset of severe refractory seizures in the first months of life.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 75

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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 75

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 75:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 feeding difficulties in infancy 31 very rare (1%) HP:0008872
3 absent speech 31 very rare (1%) HP:0001344
4 prolonged neonatal jaundice 31 very rare (1%) HP:0006579
5 cardiomyopathy 31 very rare (1%) HP:0001638
6 postnatal microcephaly 31 very rare (1%) HP:0005484
7 hypsarrhythmia 31 very rare (1%) HP:0002521
8 decreased liver function 31 very rare (1%) HP:0001410
9 seizure 31 very rare (1%) HP:0001250
10 hypertelorism 31 HP:0000316
11 wide nasal bridge 31 HP:0000431
12 short nose 31 HP:0003196
13 anteverted nares 31 HP:0000463
14 optic atrophy 31 HP:0000648
15 spasticity 31 HP:0001257
16 hyperreflexia 31 HP:0001347
17 open mouth 31 HP:0000194
18 upslanted palpebral fissure 31 HP:0000582
19 proptosis 31 HP:0000520
20 short philtrum 31 HP:0000322
21 profound global developmental delay 31 HP:0012736
22 babinski sign 31 HP:0003487
23 sloping forehead 31 HP:0000340
24 hypoplasia of the corpus callosum 31 HP:0002079
25 optic disc pallor 31 HP:0000543
26 frontal cortical atrophy 31 HP:0006913
27 muscular hypotonia of the trunk 31 HP:0008936
28 cerebral visual impairment 31 HP:0100704
29 short chin 31 HP:0000331
30 epileptic encephalopathy 31 HP:0200134
31 cns hypomyelination 31 HP:0003429

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
anteverted nares
broad nasal bridge

Neurologic Central Nervous System:
spasticity
absent speech
hyperreflexia
cerebral atrophy
frontal cortical atrophy
more
Head And Neck Face:
sloping forehead
dysmorphic features (in some patients)

Growth Other:
poor overall growth

Abdomen Liver:
liver dysfunction (in some patients)

Genitourinary Kidneys:
renal dysfunction (in some patients)

Laboratory Abnormalities:
serum or csf lactate may be increased, but may be normal

Head And Neck Eyes:
optic atrophy
pale optic disks
cortical visual impairment

Head And Neck Mouth:
open mouth

Abdomen Gastrointestinal:
poor feeding

Muscle Soft Tissue:
axial hypotonia

Cardiovascular Heart:
cardiomyopathy (in some patients)

Head And Neck Head:
microcephaly (down to -6 sd)

Clinical features from OMIM:

618437

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 75

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 75

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 75

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 75:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 75 29

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 75

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 75:

40
Liver, Brain, Cerebellum

Publications for Epileptic Encephalopathy, Early Infantile, 75

Articles related to Epileptic Encephalopathy, Early Infantile, 75:

# Title Authors PMID Year
1
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy. 56 6
29915213 2018
2
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations. 6 56
29410512 2018
3
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. 56 6
28077841 2017
4
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 56 6
27290639 2016
5
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome. 6 56
25629079 2015
6
Phenotypic and genotypic variability in Alpers syndrome. 6 56
22237560 2012
7
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
8
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 75

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 75:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PARS2 NM_152268.4(PARS2):c.1130dup (p.Pro377_Lys378insTer)duplication Pathogenic 183148 rs730882152 1:55223704-55223705 1:54758031-54758032
2 PARS2 NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)SNV Uncertain significance 183149 rs730882153 1:55223999-55223999 1:54758326-54758326
3 PARS2 NM_152268.4(PARS2):c.283G>A (p.Val95Ile)SNV Uncertain significance 432121 rs147227819 1:55224552-55224552 1:54758879-54758879
4 PARS2 NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)SNV Uncertain significance 632566 rs35201073 1:55223744-55223744 1:54758071-54758071
5 PARS2 NM_152268.4(PARS2):c.239T>C (p.Ile80Thr)SNV Uncertain significance 632567 rs1246773873 1:55224596-55224596 1:54758923-54758923
6 PARS2 NM_152268.4(PARS2):c.607G>A (p.Glu203Lys)SNV Uncertain significance 632568 rs1557762729 1:55224228-55224228 1:54758555-54758555
7 PARS2 NM_152268.4(PARS2):c.604C>G (p.Arg202Gly)SNV Uncertain significance 632570 rs141760650 1:55224231-55224231 1:54758558-54758558

Expression for Epileptic Encephalopathy, Early Infantile, 75

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 75.

Pathways for Epileptic Encephalopathy, Early Infantile, 75

GO Terms for Epileptic Encephalopathy, Early Infantile, 75

Sources for Epileptic Encephalopathy, Early Infantile, 75

3 CDC
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56 OMIM
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61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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