EIEE35
MCID: EPL193
MIFTS: 25

Epileptic Encephalopathy, Early Infantile, 35 (EIEE35)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76 30 6
Itpa-Related Encephalopathy 12 60
Eiee35 58 76
Early Infantile Epileptic Encephalopathy 35 12

Characteristics:

Orphanet epidemiological data:

60
itpa-related encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
epileptic encephalopathy, early infantile, 35:
Clinical modifier death in infancy
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 35

OMIM : 58 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 itpa-related encephalopathy. 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 cardiomyopathy and cataract

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has material basis in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.

UniProtKB/Swiss-Prot : 76 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 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, 35

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

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 33 occasional (7.5%) HP:0001638
2 cataract 33 very rare (1%) HP:0000518
3 global developmental delay 33 very rare (1%) HP:0001263
4 microcephaly 33 very rare (1%) HP:0000252
5 feeding difficulties 33 very rare (1%) HP:0011968
6 brain atrophy 33 HP:0012444
7 irritability 33 HP:0000737
8 intrauterine growth retardation 33 HP:0001511
9 status epilepticus 33 HP:0002133
10 high pitched voice 33 HP:0001620
11 severe muscular hypotonia 33 HP:0006829
12 encephalopathy 33 HP:0001298
13 cerebral atrophy 33 HP:0002059
14 delayed cns myelination 33 HP:0002188
15 limb tremor 33 HP:0200085

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ITPA

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 35

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

42
Brain, Eye, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 35

Articles related to Epileptic Encephalopathy, Early Infantile, 35:

# Title Authors Year
1
Recessive ITPA mutations cause an early infantile encephalopathy. ( 26224535 )
2015

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 rs1407446171 GRCh38 Chromosome 20, 3218580: 3218587
8 ITPA NM_033453.3(ITPA): c.359_366dupTCAGCACC (p.Gly123Serfs) duplication Pathogenic rs1407446171 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
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10 dbSNP
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31 HGMD
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50 NCI
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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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