EIEE35
MCID: EPL193
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 35 (EIEE35)

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, 35

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 35:

Name: Epileptic Encephalopathy, Early Infantile, 35 57 75 29 6
Eiee35 57 75
Itpa-Related Encephalopathy 59

Characteristics:

Orphanet epidemiological data:

59
itpa-related encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset soon after birth
death in early childhood may occur


HPO:

32
epileptic encephalopathy, early infantile, 35:
Mortality/Aging death in infancy
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 35

OMIM : 57 Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015) For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see 308350. (616647)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 35, is also known as eiee35. An important gene associated with Epileptic Encephalopathy, Early Infantile, 35 is ITPA (Inosine Triphosphatase). Affiliated tissues include brain, eye and liver, and related phenotypes are brain atrophy and cataract

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 35: 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. EIEE35 is characterized by onset of seizures in the first months of life associated with essentially no normal development. Many patients die in early childhood.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 35

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, 35

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
encephalopathy
cerebral atrophy
delayed myelination
lack of psychomotor development
more
Growth Other:
intrauterine growth retardation
poor overall growth

Cardiovascular Heart:
cardiomyopathy (1 patient)
electrocardiogram abnormalities (in some patients)

Head And Neck Eyes:
cataracts (1 family)
minimal eye contact

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia, severe

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


Clinical features from OMIM:

616647

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 35:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 32 HP:0012444
2 cataract 32 very rare (1%) HP:0000518
3 global developmental delay 32 very rare (1%) HP:0001263
4 microcephaly 32 very rare (1%) HP:0000252
5 irritability 32 HP:0000737
6 feeding difficulties 32 very rare (1%) HP:0011968
7 intrauterine growth retardation 32 HP:0001511
8 cardiomyopathy 32 occasional (7.5%) HP:0001638
9 status epilepticus 32 HP:0002133
10 high pitched voice 32 HP:0001620
11 severe muscular hypotonia 32 HP:0006829
12 encephalopathy 32 HP:0001298
13 cerebral atrophy 32 HP:0002059
14 delayed cns myelination 32 HP:0002188
15 limb tremor 32 HP:0200085

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 35

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 35

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 35

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 35:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 35 29 ITPA

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 35

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 35:

41
Brain, Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 35

Variations for Epileptic Encephalopathy, Early Infantile, 35

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 35:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ITPA NM_033453.3(ITPA): c.264-607_295+1267del1906 deletion Pathogenic GRCh38 Chromosome 20, 3214674: 3216579
2 ITPA NM_033453.3(ITPA): c.264-607_295+1267del1906 deletion Pathogenic GRCh37 Chromosome 20, 3195320: 3197225
3 ITPA NM_033453.3(ITPA): c.452G> A (p.Trp151Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200086262 GRCh38 Chromosome 20, 3221881: 3221881
4 ITPA NM_033453.3(ITPA): c.452G> A (p.Trp151Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200086262 GRCh37 Chromosome 20, 3202527: 3202527
5 ITPA NM_001324236.1(ITPA): c.195C> T (p.Ile65=) single nucleotide variant Pathogenic rs746930990 GRCh38 Chromosome 20, 3223409: 3223409
6 ITPA NM_001324236.1(ITPA): c.195C> T (p.Ile65=) single nucleotide variant Pathogenic rs746930990 GRCh37 Chromosome 20, 3204055: 3204055
7 ITPA NM_033453.3(ITPA): c.359_366dupTCAGCACC (p.Gly123Serfs) duplication Pathogenic rs863225424 GRCh38 Chromosome 20, 3218580: 3218587
8 ITPA NM_033453.3(ITPA): c.359_366dupTCAGCACC (p.Gly123Serfs) duplication Pathogenic rs863225424 GRCh37 Chromosome 20, 3199226: 3199233
9 ITPA NM_033453.3(ITPA): c.488C> T (p.Thr163Met) single nucleotide variant Uncertain significance rs758706191 GRCh37 Chromosome 20, 3202563: 3202563
10 ITPA NM_033453.3(ITPA): c.488C> T (p.Thr163Met) single nucleotide variant Uncertain significance rs758706191 GRCh38 Chromosome 20, 3221917: 3221917

Expression for Epileptic Encephalopathy, Early Infantile, 35

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 35.

Pathways for Epileptic Encephalopathy, Early Infantile, 35

GO Terms for Epileptic Encephalopathy, Early Infantile, 35

Sources for Epileptic Encephalopathy, Early Infantile, 35

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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