EIEE55
MCID: EPL194
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 55 (EIEE55)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 75
Glycosylphosphatidylinositol Biosynthesis Defect 14 57 75
Early Infantile Epileptic Encephalopathy 55 29 6
Gpibd14 57 75
Eiee55 57 75
Glycosylphosphatidylinositol Biosynthesis Defect 14; Gpibd14 57
Encephalopathy, Epileptic, Early Infantile, Type 55 ) 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epileptic encephalopathy, early infantile, 55:
Onset and clinical course neonatal onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 55

UniProtKB/Swiss-Prot : 75 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 glycosylphosphatidylinositol biosynthesis defect 14. An important gene associated with Epileptic Encephalopathy, Early Infantile, 55 is PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P). Affiliated tissues include eye and liver, and related phenotypes are seizures and hyperreflexia

Description from OMIM: 617599

Related Diseases for Epileptic Encephalopathy, Early Infantile, 55

Diseases in the 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, 25
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
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 55

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hyperreflexia 32 HP:0001347
3 global developmental delay 32 HP:0001263
4 flexion contracture 32 HP:0001371
5 absent speech 32 HP:0001344
6 intellectual disability, profound 32 HP:0002187
7 hypoplasia of the corpus callosum 32 HP:0002079
8 poor head control 32 HP:0002421
9 hypsarrhythmia 32 HP:0002521
10 epileptic encephalopathy 32 HP:0200134
11 limb hypertonia 32 HP:0002509
12 multifocal epileptiform discharges 32 HP:0010841
13 cerebral visual impairment 32 HP:0100704

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 29 PIGP

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 55

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

41
Eye, Liver

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:

75
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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