MCID: EPL194
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 55

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

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 617599
MeSH 44 D013036

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, also known as glycosylphosphatidylinositol biosynthesis defect 14, is related to down syndrome. An important gene associated with Epileptic Encephalopathy, Early Infantile, 55 is PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P). Affiliated tissues include eye.

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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Diseases related to Epileptic Encephalopathy, Early Infantile, 55 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 down syndrome 8.9 PIGP TTC3

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 55

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
poor growth

Head And Neck Eyes:
cortical visual impairment
no eye contact

Skeletal:
contractures
hyperlaxity

Neurologic Central Nervous System:
epileptic encephalopathy
seizures, refractory
delayed psychomotor development
intellectual disability, profound
absent speech
more
Head And Neck Head:
small head circumference

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
axial hypotonia


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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 55

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

41
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:

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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