DEE83
MCID: DVL106
MIFTS: 22

Developmental and Epileptic Encephalopathy 83 (DEE83)

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 83

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 83:

Name: Developmental and Epileptic Encephalopathy 83 57 12
Epileptic Encephalopathy, Early Infantile, 83 57 73
Barakat-Perenthaler Syndrome 57 73
Eiee83 57 73
Dee83 57 12
Epileptic Encephalopathy, Early Infantile, 83; Eiee83 57
Encephalopathy, Epileptic, Early Infantile, Type 83 39
Developmental and Epileptic Encephalopathy, 83 6
Early Infantile Epileptic Encephalopathy 83 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
dysmorphic features (in some patients)
death in early childhood may occur


HPO:

31
developmental and epileptic encephalopathy 83:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 83

OMIM® : 57 Developmental and epileptic encephalopathy-83 (DEE83) is a severe autosomal recessive neurodevelopmental disorder characterized by onset of frequent seizures in the first days to months of life that are usually refractory to medical treatment and are associated with significant EEG abnormalities. Affected individuals have profoundly impaired development, with no motor or language skill acquisition, poor or absent visual tracking, and poor oromotor function necessitating tube feeding. Many patients die in the first years of life (summary by Perenthaler et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618744) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 83, is also known as epileptic encephalopathy, early infantile, 83. An important gene associated with Developmental and Epileptic Encephalopathy 83 is UGP2 (UDP-Glucose Pyrophosphorylase 2). Affiliated tissues include brain and eye, and related phenotypes are spasticity and hyperreflexia

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has material basis in homozygous or compound heterozygous mutation in UGP2 on chromosome 2p15.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 83: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. EIEE83 is an autosomal recessive form characterized by onset of frequent, intractable seizures in the first days to months of life. Affected individuals have profound developmental delay with no motor or language skill acquisition, and poor or absent visual tracking. Many patients die in the first years of life.

Related Diseases for Developmental and Epileptic Encephalopathy 83

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 57 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 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

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 83

Human phenotypes related to Developmental and Epileptic Encephalopathy 83:

31 (show all 31)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 very rare (1%) HP:0001257
2 hyperreflexia 31 very rare (1%) HP:0001347
3 frontal bossing 31 very rare (1%) HP:0002007
4 nystagmus 31 very rare (1%) HP:0000639
5 developmental regression 31 very rare (1%) HP:0002376
6 depressed nasal bridge 31 very rare (1%) HP:0005280
7 recurrent respiratory infections 31 very rare (1%) HP:0002205
8 microcephaly 31 very rare (1%) HP:0000252
9 feeding difficulties in infancy 31 very rare (1%) HP:0008872
10 genu valgum 31 very rare (1%) HP:0002857
11 absent speech 31 very rare (1%) HP:0001344
12 low-set ears 31 very rare (1%) HP:0000369
13 epicanthus 31 very rare (1%) HP:0000286
14 cerebral cortical atrophy 31 very rare (1%) HP:0002120
15 highly arched eyebrow 31 very rare (1%) HP:0002553
16 long philtrum 31 very rare (1%) HP:0000343
17 high anterior hairline 31 very rare (1%) HP:0009890
18 severe global developmental delay 31 very rare (1%) HP:0011344
19 synophrys 31 very rare (1%) HP:0000664
20 sloping forehead 31 very rare (1%) HP:0000340
21 hypoplasia of the fovea 31 very rare (1%) HP:0007750
22 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
23 poor eye contact 31 very rare (1%) HP:0000817
24 tetraparesis 31 very rare (1%) HP:0002273
25 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
26 narrow forehead 31 very rare (1%) HP:0000341
27 chronic constipation 31 very rare (1%) HP:0012450
28 seizure 31 very rare (1%) HP:0001250
29 persistent head lag 31 very rare (1%) HP:0032988
30 poor suck 31 HP:0002033
31 intellectual disability, profound 31 HP:0002187

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
cerebellar atrophy
intellectual disability, profound
hypsarrhythmia
more
Head And Neck Head:
microcephaly
elongated head

Skeletal Hands:
brachydactyly

Head And Neck Face:
sloping forehead
prominent philtrum

Head And Neck Mouth:
small mouth
poor oromotor function

Respiratory:
respiratory infections, recurrent

Abdomen Gastrointestinal:
constipation
poor feeding
tube feeding

Head And Neck Ears:
low-set ears

Skin Nails Hair Hair:
high anterior hairline

Head And Neck Eyes:
hypermetropia
foveal hypoplasia
arched eyebrows
pale optic discs
cortical visual impairment
more
Head And Neck Nose:
flat nasal bridge

Muscle Soft Tissue:
hypotonia, axial

Clinical features from OMIM®:

618744 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 83

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 83

Genetic Tests for Developmental and Epileptic Encephalopathy 83

Anatomical Context for Developmental and Epileptic Encephalopathy 83

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 83:

40
Brain, Eye

Publications for Developmental and Epileptic Encephalopathy 83

Articles related to Developmental and Epileptic Encephalopathy 83:

# Title Authors PMID Year
1
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. 6 57
31820119 2020

Variations for Developmental and Epileptic Encephalopathy 83

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 83:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UGP2 NM_006759.4(UGP2):c.34A>G SNV Pathogenic 805980 rs768305634 2:64083454-64083454 2:63856320-63856320

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 83:

73
# Symbol AA change Variation ID SNP ID
1 UGP2 p.Met12Val VAR_083746 rs768305634

Expression for Developmental and Epileptic Encephalopathy 83

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 83.

Pathways for Developmental and Epileptic Encephalopathy 83

GO Terms for Developmental and Epileptic Encephalopathy 83

Sources for Developmental and Epileptic Encephalopathy 83

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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