EIEE75
MCID: EPL240
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 75 (EIEE75)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 57 74 29 6
Eiee75 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

MeSH 44 D013036
MedGen 42 CN258814

Summaries for Epileptic Encephalopathy, Early Infantile, 75

OMIM : 57 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.

UniProtKB/Swiss-Prot : 74 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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 75

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
hyperreflexia
absent speech
epileptic encephalopathy
hypsarrhythmia
more
Head And Neck Eyes:
optic atrophy
pale optic disks
cortical visual impairment

Head And Neck Face:
sloping forehead
dysmorphic features (in some patients)

Muscle Soft Tissue:
axial hypotonia

Cardiovascular Heart:
cardiomyopathy (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 Nose:
anteverted nares
broad nasal bridge

Head And Neck Mouth:
open mouth

Abdomen Gastrointestinal:
poor feeding

Abdomen Liver:
liver dysfunction (in some patients)

Growth Other:
poor overall growth

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 PARS2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 75

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

41
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. 8 71
29915213 2018
2
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations. 8 71
29410512 2018
3
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. 8 71
28077841 2017
4
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 8 71
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. 8 71
25629079 2015
6
Phenotypic and genotypic variability in Alpers syndrome. 8 71
22237560 2012
7
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
8
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 75

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PARS2 NM_152268.4(PARS2): c.1091C> G (p.Pro364Arg) single nucleotide variant Pathogenic 1:55223744-55223744 1:54758071-54758071
2 PARS2 NM_152268.4(PARS2): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic 1:55224596-55224596 1:54758923-54758923
3 PARS2 NM_152268.4(PARS2): c.607G> A (p.Glu203Lys) single nucleotide variant Pathogenic 1:55224228-55224228 1:54758555-54758555
4 PARS2 NM_152268.4(PARS2): c.604C> G (p.Arg202Gly) single nucleotide variant Pathogenic 1:55224231-55224231 1:54758558-54758558
5 PARS2 NM_152268.4(PARS2): c.1130dup (p.Pro377_Lys378insTer) duplication Pathogenic rs730882152 1:55223705-55223705 1:54758032-54758032
6 PARS2 NM_152268.4(PARS2): c.836C> T (p.Ser279Leu) single nucleotide variant Uncertain significance rs730882153 1:55223999-55223999 1:54758326-54758326
7 PARS2 NM_152268.4(PARS2): c.283G> A (p.Val95Ile) single nucleotide variant Uncertain significance rs147227819 1:55224552-55224552 1:54758879-54758879

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

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73 UMLS via Orphanet
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