DEE35
MCID: DVL062
MIFTS: 29

Developmental and Epileptic Encephalopathy 35 (DEE35)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 35

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 35:

Name: Developmental and Epileptic Encephalopathy 35 57 12
Epileptic Encephalopathy, Early Infantile, 35 57 72 29 6
Eiee35 57 72
Dee35 57 12
Itpa-Related Lethal Infantile Neurological Disorder with Cataract and Cardiac Involvement 58
Epileptic Encephalopathy, Early Infantile, 35; Eiee35 57
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®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
developmental and epileptic encephalopathy 35:
Onset and clinical course death in infancy infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0080458
OMIM® 57 616647
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036
ICD10 via Orphanet 33 G40.4
Orphanet 58 ORPHA457375

Summaries for Developmental and Epileptic Encephalopathy 35

OMIM® : 57 Developmental and epileptic encephalopathy-35 (DEE35) 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 DEE, see 308350. (616647) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 35, also known as epileptic encephalopathy, early infantile, 35, is related to atrial standstill 1 and martsolf syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 35 is ITPA (Inosine Triphosphatase). Affiliated tissues include eye and brain, and related phenotypes are cardiomyopathy and cataract

Disease Ontology : 12 A developmental and 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 : 72 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 Developmental and Epileptic Encephalopathy 35

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 93
Developmental and Epileptic Encephalopathy 66 Developmental and Epileptic Encephalopathy 67
Developmental and Epileptic Encephalopathy 68 Developmental and Epileptic Encephalopathy 69
Developmental and Epileptic Encephalopathy 70 Developmental and Epileptic Encephalopathy 71
Developmental and Epileptic Encephalopathy 72 Developmental and Epileptic Encephalopathy 73
Developmental and Epileptic Encephalopathy 74 Developmental and Epileptic Encephalopathy 75
Developmental and Epileptic Encephalopathy 76 Developmental and Epileptic Encephalopathy 78
Developmental and Epileptic Encephalopathy 79 Developmental and Epileptic Encephalopathy 80
Developmental and Epileptic Encephalopathy 81 Developmental and Epileptic Encephalopathy 82
Developmental and Epileptic Encephalopathy 83 Developmental and Epileptic Encephalopathy 84
Developmental and Epileptic Encephalopathy 86 Developmental and Epileptic Encephalopathy 87
Developmental and Epileptic Encephalopathy 88 Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 35 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 8, show less)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 10.0
2 martsolf syndrome 10.0
3 inosine triphosphatase deficiency 10.0
4 microcephaly 10.0
5 dilated cardiomyopathy 10.0
6 cataract 10.0
7 encephalopathy 10.0
8 hypotonia 10.0

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 35:



Diseases related to Developmental and Epileptic Encephalopathy 35

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 35

Human phenotypes related to Developmental and Epileptic Encephalopathy 35:

31 (showing 15, show less)
# 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 intrauterine growth retardation 31 HP:0001511
7 irritability 31 HP:0000737
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®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
encephalopathy
cerebral atrophy
delayed myelination
lack of psychomotor development
more
Abdomen Gastrointestinal:
feeding difficulties

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

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

Growth Other:
intrauterine growth retardation
poor overall growth

Muscle Soft Tissue:
hypotonia, severe

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

Clinical features from OMIM®:

616647 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 35

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 35

Genetic Tests for Developmental and Epileptic Encephalopathy 35

Genetic tests related to Developmental and Epileptic Encephalopathy 35:

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

Anatomical Context for Developmental and Epileptic Encephalopathy 35

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 35:

40
Eye, Brain

Publications for Developmental and Epileptic Encephalopathy 35

Articles related to Developmental and Epileptic Encephalopathy 35:

(showing 2, show less)
# Title Authors PMID Year
1
Recessive ITPA mutations cause an early infantile encephalopathy. 6 57
26224535 2015
2
Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene. 61
30816001 2019

Variations for Developmental and Epileptic Encephalopathy 35

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 35:

6 (showing 15, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITPA NM_033453.4(ITPA):c.264-607_295+1267del Deletion Pathogenic 218088 GRCh37: 20:3195320-3197225
GRCh38: 20:3214674-3216579
2 ITPA NM_033453.4(ITPA):c.532C>T (p.Arg178Cys) SNV Pathogenic 218090 rs746930990 GRCh37: 20:3204055-3204055
GRCh38: 20:3223409-3223409
3 ITPA NM_033453.4(ITPA):c.263+583_295+1203del Deletion Pathogenic 804289 GRCh37: 20:3195287-3197161
GRCh38: 20:3214641-3216515
4 ITPA NM_033453.4(ITPA):c.519del (p.Asn173fs) Deletion Pathogenic 998270 GRCh37: 20:3204042-3204042
GRCh38: 20:3223396-3223396
5 ITPA NM_033453.4(ITPA):c.359_366dup (p.Gly123fs) Duplication Pathogenic 218091 rs1407446171 GRCh37: 20:3199224-3199225
GRCh38: 20:3218578-3218579
6 ITPA NM_033453.4(ITPA):c.452G>A (p.Trp151Ter) SNV Pathogenic 218089 rs200086262 GRCh37: 20:3202527-3202527
GRCh38: 20:3221881-3221881
7 ITPA NM_033453.4(ITPA):c.124+1G>A SNV Pathogenic 646228 rs376142053 GRCh37: 20:3193873-3193873
GRCh38: 20:3213227-3213227
8 ITPA NM_033453.4(ITPA):c.379C>T (p.Gln127Ter) SNV Pathogenic 1032340 GRCh37: 20:3199246-3199246
GRCh38: 20:3218600-3218600
9 ITPA NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter) Indel Likely pathogenic 973585 GRCh37: 20:3193976-3193978
GRCh38: 20:3213330-3213332
10 ITPA NM_033453.4(ITPA):c.271T>C (p.Phe91Leu) SNV Likely pathogenic 807614 rs1600509558 GRCh37: 20:3195934-3195934
GRCh38: 20:3215288-3215288
11 ITPA NM_033453.4(ITPA):c.302A>G (p.His101Arg) SNV Uncertain significance 931694 GRCh37: 20:3199169-3199169
GRCh38: 20:3218523-3218523
12 ITPA NM_033453.4(ITPA):c.488C>T (p.Thr163Met) SNV Uncertain significance 431714 rs758706191 GRCh37: 20:3202563-3202563
GRCh38: 20:3221917-3221917
13 ITPA NM_033453.4(ITPA):c.66+3G>C SNV Uncertain significance 1028521 GRCh37: 20:3190266-3190266
GRCh38: 20:3209620-3209620
14 ITPA NM_033453.4(ITPA):c.316G>C (p.Gly106Arg) SNV Uncertain significance 464833 rs202194282 GRCh37: 20:3199183-3199183
GRCh38: 20:3218537-3218537
15 ITPA NM_033453.4(ITPA):c.416G>A (p.Arg139Gln) SNV Uncertain significance 946360 GRCh37: 20:3202491-3202491
GRCh38: 20:3221845-3221845

Expression for Developmental and Epileptic Encephalopathy 35

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 35.

Pathways for Developmental and Epileptic Encephalopathy 35

GO Terms for Developmental and Epileptic Encephalopathy 35

Sources for Developmental and Epileptic Encephalopathy 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....