DEE55
MCID: DVL079
MIFTS: 25

Developmental and Epileptic Encephalopathy 55 (DEE55)

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 55

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 55:

Name: Developmental and Epileptic Encephalopathy 55 57 12
Glycosylphosphatidylinositol Biosynthesis Defect 14 57 12 73
Early Infantile Epileptic Encephalopathy 55 12 29 6
Gpibd14 57 12 73
Epileptic Encephalopathy, Early Infantile, 55 57 73
Eiee55 57 73
Dee55 57 12
Glycosylphosphatidylinositol Biosynthesis Defect 14; Gpibd14 57
Epileptic Encephalopathy, Early Infantile, 55; Eiee55 57
Encephalopathy, Epileptic, Early Infantile, Type 55 39

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
death in childhood may occur
three unrelated families have been reported (last curated march 2020)


HPO:

31
developmental and epileptic encephalopathy 55:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset neonatal onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 55

OMIM® : 57 Developmental and epileptic encephalopathy-55 (DEE55) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks or months of life. Affected individuals have an extremely poor outcome, with profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements. Most have cortical visual impairment and require a feeding tube. Brain imaging shows nonspecific abnormalities, including cerebral atrophy, thin corpus callosum, and abnormal signals in the white matter. Death in childhood may occur. Biochemically, the disorder is associated with impaired synthesis of GPI-anchored proteins (summary by Vetro et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (617599) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 55, is also known as glycosylphosphatidylinositol biosynthesis defect 14. An important gene associated with Developmental and Epileptic Encephalopathy 55 is PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P). Affiliated tissues include eye, and related phenotypes are clonus and global developmental delay

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has material basis in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Developmental and Epileptic Encephalopathy 55

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 55

Human phenotypes related to Developmental and Epileptic Encephalopathy 55:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 clonus 31 HP:0002169
2 global developmental delay 31 HP:0001263
3 microcephaly 31 HP:0000252
4 flexion contracture 31 HP:0001371
5 absent speech 31 HP:0001344
6 growth delay 31 HP:0001510
7 joint laxity 31 HP:0001388
8 joint hypermobility 31 HP:0001382
9 hypoplasia of the corpus callosum 31 HP:0002079
10 poor eye contact 31 HP:0000817
11 poor head control 31 HP:0002421
12 feeding difficulties 31 HP:0011968
13 intellectual disability, profound 31 HP:0002187
14 muscular hypotonia of the trunk 31 HP:0008936
15 inability to walk 31 HP:0002540
16 cerebral visual impairment 31 HP:0100704
17 hypsarrhythmia 31 HP:0002521
18 multifocal epileptiform discharges 31 HP:0010841
19 epileptic encephalopathy 31 HP:0200134
20 limb hypertonia 31 HP:0002509
21 decreased head circumference 31 HP:0040195
22 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
clonus
dyskinesia
absent speech
more
Skeletal:
contractures
hyperlaxity

Growth Other:
poor growth

Head And Neck Eyes:
cortical visual impairment
no eye contact

Abdomen Gastrointestinal:
feeding difficulties
tube feeding

Head And Neck Head:
small head circumference

Muscle Soft Tissue:
axial hypotonia

Laboratory Abnormalities:
patient lymphocytes show decreased expression of gpi-anchored proteins

Clinical features from OMIM®:

617599 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 55

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 55

Genetic Tests for Developmental and Epileptic Encephalopathy 55

Genetic tests related to Developmental and Epileptic Encephalopathy 55:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 55 29 PIGP

Anatomical Context for Developmental and Epileptic Encephalopathy 55

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 55:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 55

Articles related to Developmental and Epileptic Encephalopathy 55:

# Title Authors PMID Year
1
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations. 6 57
32042915 2020
2
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. 57 6
31139695 2019
3
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. 57 6
28334793 2017
4
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases. 61
32466763 2020

Variations for Developmental and Epileptic Encephalopathy 55

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 55:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGP NM_016430.3(PIGP):c.306del (p.Glu103fs) Deletion Pathogenic 397552 rs778481061 21:38437903-38437903 21:37065603-37065603
2 PIGP NM_153681.2(PIGP):c.74T>C (p.Met25Thr) SNV Likely pathogenic 397551 rs768633670 21:38444814-38444814 21:37072514-37072514
3 PIGP NM_016430.3(PIGP):c.-223C>G SNV Uncertain significance 803631 rs201170767 21:38444794-38444794 21:37072494-37072494

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 55:

73
# Symbol AA change Variation ID SNP ID
1 PIGP p.Met25Thr VAR_079291 rs768633670

Expression for Developmental and Epileptic Encephalopathy 55

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 55.

Pathways for Developmental and Epileptic Encephalopathy 55

GO Terms for Developmental and Epileptic Encephalopathy 55

Sources for Developmental and Epileptic Encephalopathy 55

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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