EIEE83
MCID: EPL250
MIFTS: 19

Epileptic Encephalopathy, Early Infantile, 83 (EIEE83)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 83

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 83:

Name: Epileptic Encephalopathy, Early Infantile, 83 56 6
Barakat-Perenthaler Syndrome 56
Eiee83 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 56 618744
OMIM Phenotypic Series 56 PS308350

Summaries for Epileptic Encephalopathy, Early Infantile, 83

OMIM : 56 Early infantile epileptic encephalopathy-83 (EIEE83) 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., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (618744)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 83, is also known as barakat-perenthaler syndrome. An important gene associated with Epileptic Encephalopathy, Early Infantile, 83 is UGP2 (UDP-Glucose Pyrophosphorylase 2). Affiliated tissues include brain, eye and bone.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 83

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 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 83

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Abdomen Gastrointestinal:
constipation
poor feeding
tube feeding

Head And Neck Head:
microcephaly
elongated head

Skin Nails Hair Hair:
high anterior hairline

Head And Neck Mouth:
small mouth
poor oromotor function

Respiratory:
respiratory infections, recurrent

Neurologic Central Nervous System:
spasticity
hyperreflexia
epileptic encephalopathy
hypsarrhythmia
cerebellar atrophy
more
Skeletal Hands:
brachydactyly

Head And Neck Face:
sloping forehead
prominent philtrum

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

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 83

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 83

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 83

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 83

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 83:

40
Brain, Eye, Bone, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 83

Articles related to Epileptic Encephalopathy, Early Infantile, 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. 56 6
31820119 2019
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

Variations for Epileptic Encephalopathy, Early Infantile, 83

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 83:

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

Expression for Epileptic Encephalopathy, Early Infantile, 83

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 83.

Pathways for Epileptic Encephalopathy, Early Infantile, 83

GO Terms for Epileptic Encephalopathy, Early Infantile, 83

Sources for Epileptic Encephalopathy, Early Infantile, 83

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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