EIEE35
MCID: EPL193
MIFTS: 28

Epileptic Encephalopathy, Early Infantile, 35 (EIEE35)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological 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 56 73 29 6
Eiee35 56 73
Itpa-Related Lethal Infantile Neurological Disorder with Cataract and Cardiac Involvement 58
Early Infantile Epileptic Encephalopathy 35 12
Itpa-Related Encephalopathy 12
Martsolf-Like Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
itpa-related lethal infantile neurological disorder with cataract and cardiac involvement
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
epileptic encephalopathy, early infantile, 35:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


Summaries for Epileptic Encephalopathy, Early Infantile, 35

OMIM : 56 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, also known as eiee35, is related to atrial standstill 1 and martsolf syndrome. An important gene associated with Epileptic Encephalopathy, Early Infantile, 35 is ITPA (Inosine Triphosphatase). Affiliated tissues include brain and eye, 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 : 73 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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 35 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 10.1
2 martsolf syndrome 10.1
3 microcephaly 10.1
4 dilated cardiomyopathy 10.1
5 cataract 10.1
6 hypotonia 10.1

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 35:



Diseases related to Epileptic Encephalopathy, Early Infantile, 35

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 35

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

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 31 occasional (7.5%) HP:0001638
2 cataract 31 very rare (1%) HP:0000518
3 global developmental delay 31 very rare (1%) HP:0001263
4 microcephaly 31 very rare (1%) HP:0000252
5 feeding difficulties 31 very rare (1%) HP:0011968
6 irritability 31 HP:0000737
7 intrauterine growth retardation 31 HP:0001511
8 high pitched voice 31 HP:0001620
9 severe muscular hypotonia 31 HP:0006829
10 encephalopathy 31 HP:0001298
11 status epilepticus 31 HP:0002133
12 cerebral atrophy 31 HP:0002059
13 brain atrophy 31 HP:0012444
14 delayed cns myelination 31 HP:0002188
15 limb tremor 31 HP:0200085

Symptoms via clinical synopsis from OMIM:

56
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 29 ITPA

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 35

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

40
Brain, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 35

Articles related to Epileptic Encephalopathy, Early Infantile, 35:

# Title Authors PMID Year
1
Recessive ITPA mutations cause an early infantile encephalopathy. 6 56
26224535 2015
2
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
3
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
4
Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. 61
30816001 2019

Variations for Epileptic Encephalopathy, Early Infantile, 35

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITPA NM_033453.4(ITPA):c.264-607_295+1267deldeletion Pathogenic 218088 20:3195320-3197225 20:3214674-3216579
2 ITPA NM_033453.4(ITPA):c.452G>A (p.Trp151Ter)SNV Pathogenic 218089 rs200086262 20:3202527-3202527 20:3221881-3221881
3 ITPA NM_033453.4(ITPA):c.532C>T (p.Arg178Cys)SNV Pathogenic 218090 rs746930990 20:3204055-3204055 20:3223409-3223409
4 ITPA NC_000020.10:g.3195287_3197161deldeletion Pathogenic 804289 20:3195287-3197161
5 ITPA NM_033453.4(ITPA):c.271T>C (p.Phe91Leu)SNV Likely pathogenic 807614 20:3195934-3195934 20:3215288-3215288
6 ITPA NM_033453.4(ITPA):c.359_366dup (p.Gly123fs)duplication Conflicting interpretations of pathogenicity 218091 rs1407446171 20:3199224-3199225 20:3218578-3218579
7 ITPA NM_033453.4(ITPA):c.488C>T (p.Thr163Met)SNV Uncertain significance 431714 rs758706191 20:3202563-3202563 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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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