EIEE38
MCID: EPL171
MIFTS: 21

Epileptic Encephalopathy, Early Infantile, 38 (EIEE38)

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, 38

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

Name: Epileptic Encephalopathy, Early Infantile, 38 57 75 29 6
Eiee38 57 75

Characteristics:

OMIM:

57
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:

32
epileptic encephalopathy, early infantile, 38:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 38

UniProtKB/Swiss-Prot : 75 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 ataxia and global developmental delay

Description from OMIM: 617020

Related Diseases for Epileptic Encephalopathy, Early Infantile, 38

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, 38

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
dystonia
status epilepticus
intellectual disability, profound
epileptic encephalopathy
more
Head And Neck Eyes:
roving eye movements
poor visual contact
retinal dystrophy (1 patient)

Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617020

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 global developmental delay 32 HP:0001263
3 hypertonia 32 HP:0001276
4 dystonia 32 HP:0001332
5 status epilepticus 32 HP:0002133
6 intellectual disability, profound 32 HP:0002187
7 generalized hypotonia 32 HP:0001290
8 retinal dystrophy 32 occasional (7.5%) HP:0000556
9 epileptic encephalopathy 32 HP:0200134

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 29 ARV1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 38

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

41
Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 38

Variations for Epileptic Encephalopathy, Early Infantile, 38

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

75
# 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_022786.2(ARV1): c.674-2A> T single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 231132865: 231132865
6 ARV1 NM_022786.2(ARV1): c.674-2A> T single nucleotide variant Uncertain significance 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
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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