EIEE80
MCID: EPL246
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 80 (EIEE80)

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, 80

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 80:

Name: Epileptic Encephalopathy, Early Infantile, 80 56 73 6
Glycosylphosphatidylinositol Biosynthesis Defect 20 56 73
Gpibd20 56 73
Eiee80 56 73
Glycosylphosphatidylinositol Biosynthesis Defect 20; Gpibd20 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
death in childhood may occur


Classifications:



External Ids:

OMIM 56 618580
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
MedGen 41 CN262313

Summaries for Epileptic Encephalopathy, Early Infantile, 80

OMIM : 56 Early infantile epileptic encephalopathy-80 (EIEE80) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first year of life. Patients have severe global developmental delay and may have additional variable features, including dysmorphic or coarse facial features, distal skeletal abnormalities, and impaired hearing or vision. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by Murakami et al., 2019). For a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (618580)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 80, is also known as glycosylphosphatidylinositol biosynthesis defect 20. An important gene associated with Epileptic Encephalopathy, Early Infantile, 80 is PIGB (Phosphatidylinositol Glycan Anchor Biosynthesis Class B). Affiliated tissues include brain, tongue and eye.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 80: A form of epileptic encephalopathy, a heterogeneous group of severe early-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. EIEE80 is an autosomal recessive form characterized by onset of refractory seizures in the first year of life, severe global developmental delay and/or intellectual disability. Additional variable features include polyneuropathy, hearing loss, visual impairment, dysmorphic or coarse facial features, and distal skeletal abnormalities.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 80

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, 80

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
pale optic discs
visual impairment (in some patients)
poor fixation

Neurologic Central Nervous System:
global developmental delay
polymicrogyria
enlarged ventricles
seizures, refractory
impaired intellectual development
more
Abdomen Gastrointestinal:
feeding difficulties

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
degenerative axonal neuropathy
demyelinating sensorimotor neuropathy

Head And Neck Mouth:
protruding tongue
tented mouth

Muscle Soft Tissue:
hypotonia

Skeletal Feet:
short distal phalanges
pes equinovarus

Growth Other:
failure to thrive
poor growth

Head And Neck Nose:
wide nasal bridge
broad nasal bridge

Head And Neck Face:
micrognathia
smooth philtrum
full cheeks
long philtrum
pointed chin
more
Head And Neck Ears:
posteriorly rotated ears
dysplastic ears
low-set ear
hearing loss (in some patients)
upturned earlobes

Skin Nails Hair Nails:
hypoplastic nails

Skeletal Hands:
triphalangeal thumbs
short distal phalanges
tapering fingers

Laboratory Abnormalities:
increased serum alkaline phosphatase
increased 2-oxoglutaric acid (1 family)

Clinical features from OMIM:

618580

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 80

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 80

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 80

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 80

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 80:

40
Brain, Tongue, Eye, Bone, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 80

Articles related to Epileptic Encephalopathy, Early Infantile, 80:

# Title Authors PMID Year
1
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. 56 6
31256876 2019
2
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. 56 6
17343268 2007
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 80

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 80:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGB NM_004855.5(PIGB):c.212G>A (p.Arg71Gln)SNV Pathogenic 689514 15:55612521-55612521 15:55320323-55320323
2 PIGB NM_004855.5(PIGB):c.1162G>C (p.Ala388Pro)SNV Pathogenic 689515 15:55642935-55642935 15:55350737-55350737
3 PIGB NM_004855.5(PIGB):c.856G>C (p.Val286Leu)SNV Pathogenic 689516 15:55632819-55632819 15:55340621-55340621
4 PIGB NM_004855.5(PIGB):c.695G>A (p.Arg232His)SNV Pathogenic 689517 15:55626106-55626106 15:55333908-55333908
5 PIGB NM_004855.5(PIGB):c.847-10A>GSNV Pathogenic 689519 15:55632800-55632800 15:55340602-55340602
6 PIGB NM_004855.5(PIGB):c.1220A>G (p.His407Arg)SNV Uncertain significance 561082 rs1566960044 15:55642993-55642993 15:55350795-55350795

Expression for Epileptic Encephalopathy, Early Infantile, 80

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 80.

Pathways for Epileptic Encephalopathy, Early Infantile, 80

GO Terms for Epileptic Encephalopathy, Early Infantile, 80

Sources for Epileptic Encephalopathy, Early Infantile, 80

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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