EIEE38
MCID: EPL171
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 38 (EIEE38)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 38

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 38:

Name: Epileptic Encephalopathy, Early Infantile, 38 58 76 30 6
Eiee38 58 76
Early Infantile Epileptic Encephalopathy 38 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
severe disorder
some patients may die in early childhood
two unrelated consanguineous families have been reported (last curated july 2016)


HPO:

33
epileptic encephalopathy, early infantile, 38:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080417
OMIM 58 617020
MeSH 45 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 38

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 38: 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. EIEE38 inheritance is autosomal recessive.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 38, is also known as eiee38. An important gene associated with Epileptic Encephalopathy, Early Infantile, 38 is ARV1 (ARV1 Homolog, Fatty Acid Homeostasis Modulator). Affiliated tissues include eye and liver, and related phenotypes are retinal dystrophy and ataxia

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous mutation in the ARV1 gene on chromosome 1q42.

Description from OMIM: 617020

Related Diseases for Epileptic Encephalopathy, Early Infantile, 38

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 38

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 38:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 retinal dystrophy 33 occasional (7.5%) HP:0000556
2 ataxia 33 HP:0001251
3 global developmental delay 33 HP:0001263
4 hypertonia 33 HP:0001276
5 dystonia 33 HP:0001332
6 epileptic encephalopathy 33 HP:0200134
7 status epilepticus 33 HP:0002133
8 intellectual disability, profound 33 HP:0002187
9 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
dystonia
epileptic encephalopathy
status epilepticus
intellectual disability, profound
more
Head And Neck Eyes:
roving eye movements
poor visual contact
retinal dystrophy (1 patient)

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

617020

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 38

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 38

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 38

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 38:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 38 30 ARV1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 38

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 38:

42
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 38

Articles related to Epileptic Encephalopathy, Early Infantile, 38:

# Title Authors Year
1
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy. ( 27270415 )
2016
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. ( 25558065 )
2015

Variations for Epileptic Encephalopathy, Early Infantile, 38

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 38:

76
# Symbol AA change Variation ID SNP ID
1 ARV1 p.Gly189Arg VAR_077051 rs730882241

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 38:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARV1 NM_022786.2(ARV1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882241 GRCh38 Chromosome 1, 230995876: 230995876
2 ARV1 NM_022786.2(ARV1): c.565G> A (p.Gly189Arg) single nucleotide variant Pathogenic/Likely pathogenic rs730882241 GRCh37 Chromosome 1, 231131622: 231131622
3 ARV1 NM_022786.2(ARV1): c.294+1G> A single nucleotide variant Pathogenic rs150619347 GRCh37 Chromosome 1, 231124186: 231124186
4 ARV1 NM_022786.2(ARV1): c.294+1G> A single nucleotide variant Pathogenic rs150619347 GRCh38 Chromosome 1, 230988440: 230988440
5 ARV1 NM_001346992.1(ARV1): c.773-2A> T single nucleotide variant Uncertain significance rs1192627743 GRCh37 Chromosome 1, 231132865: 231132865
6 ARV1 NM_001346992.1(ARV1): c.773-2A> T single nucleotide variant Uncertain significance rs1192627743 GRCh38 Chromosome 1, 230997119: 230997119

Expression for Epileptic Encephalopathy, Early Infantile, 38

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 38.

Pathways for Epileptic Encephalopathy, Early Infantile, 38

GO Terms for Epileptic Encephalopathy, Early Infantile, 38

Sources for Epileptic Encephalopathy, Early Infantile, 38

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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37 IUPHAR
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46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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