EIEE55
MCID: EPL194
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 55 (EIEE55)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 55

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 55:

Name: Epileptic Encephalopathy, Early Infantile, 55 58 76
Early Infantile Epileptic Encephalopathy 55 12 30 6
Glycosylphosphatidylinositol Biosynthesis Defect 14 58 76
Gpibd14 58 76
Eiee55 58 76
Glycosylphosphatidylinositol Biosynthesis Defect 14; Gpibd14 58
Encephalopathy, Epileptic, Early Infantile, Type 55 ) 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in first weeks of life
based on a report of two sibs (last curated july 2017)


HPO:

33
epileptic encephalopathy, early infantile, 55:
Onset and clinical course neonatal onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 55

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 55: 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. EIEE55 is an autosomal recessive condition.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 55, is also known as early infantile epileptic encephalopathy 55. An important gene associated with Epileptic Encephalopathy, Early Infantile, 55 is PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P). Affiliated tissues include eye, and related phenotypes are seizures and hyperreflexia

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.

Description from OMIM: 617599

Related Diseases for Epileptic Encephalopathy, Early Infantile, 55

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 55

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 55:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 hyperreflexia 33 HP:0001347
3 global developmental delay 33 HP:0001263
4 flexion contracture 33 HP:0001371
5 absent speech 33 HP:0001344
6 intellectual disability, profound 33 HP:0002187
7 hypoplasia of the corpus callosum 33 HP:0002079
8 poor head control 33 HP:0002421
9 hypsarrhythmia 33 HP:0002521
10 epileptic encephalopathy 33 HP:0200134
11 limb hypertonia 33 HP:0002509
12 multifocal epileptiform discharges 33 HP:0010841
13 cerebral visual impairment 33 HP:0100704

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hyperreflexia
absent speech
intellectual disability, profound
poor head control
hypsarrhythmia
more
Head And Neck Eyes:
cortical visual impairment
no eye contact

Head And Neck Head:
small head circumference

Muscle Soft Tissue:
axial hypotonia

Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
contractures
hyperlaxity

Growth Other:
poor growth

Clinical features from OMIM:

617599

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 55

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 55

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 55

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 55:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 55 30 PIGP

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 55

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 55:

42
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 55

Variations for Epileptic Encephalopathy, Early Infantile, 55

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 55:

76
# Symbol AA change Variation ID SNP ID
1 PIGP p.Met25Thr VAR_079291 rs768633670

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 55:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PIGP NM_153681.2(PIGP): c.456delA (p.Glu153Asnfs) deletion Conflicting interpretations of pathogenicity rs778481061 GRCh37 Chromosome 21, 38437903: 38437903
2 PIGP NM_153681.2(PIGP): c.456delA (p.Glu153Asnfs) deletion Conflicting interpretations of pathogenicity rs778481061 GRCh38 Chromosome 21, 37065603: 37065603
3 PIGP NM_153681.2(PIGP): c.74T> C (p.Met25Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs768633670 GRCh37 Chromosome 21, 38444814: 38444814
4 PIGP NM_153681.2(PIGP): c.74T> C (p.Met25Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs768633670 GRCh38 Chromosome 21, 37072514: 37072514

Expression for Epileptic Encephalopathy, Early Infantile, 55

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 55.

Pathways for Epileptic Encephalopathy, Early Infantile, 55

GO Terms for Epileptic Encephalopathy, Early Infantile, 55

Sources for Epileptic Encephalopathy, Early Infantile, 55

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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