EIEE77
MCID: EPL243
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 77 (EIEE77)

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, 77

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 77:

Name: Epileptic Encephalopathy, Early Infantile, 77 56 73 6
Glycosylphosphatidylinositol Biosynthesis Defect 19 56 73
Gpibd19 56 73
Eiee77 56 73
Glycosylphosphatidylinositol Biosynthesis Defect 19; Gpibd19 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
early death may occur
three unrelated patients have been reported (last curated august 2019)


Classifications:



External Ids:

OMIM 56 618548
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
MedGen 41 CN262219

Summaries for Epileptic Encephalopathy, Early Infantile, 77

OMIM : 56 Early infantile epileptic encephalopathy-77 (EIEE77) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months of life. Patients have severe global developmental delay, and may have additional variable features, including dysmorphic or coarse facial features, visual defects, and mild skeletal or renal anomalies. 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 Starr 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). (618548)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 77, is also known as glycosylphosphatidylinositol biosynthesis defect 19. An important gene associated with Epileptic Encephalopathy, Early Infantile, 77 is PIGQ (Phosphatidylinositol Glycan Anchor Biosynthesis Class Q). Affiliated tissues include bone and skin.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 77: 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. EIEE77 is an autosomal recessive form characterized by onset of refractory seizures in the first months of life. Additional clinical features include coarse, dysmorphic facial features, and skeletal, renal and ophthalmic anomalies. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI).

Related Diseases for Epileptic Encephalopathy, Early Infantile, 77

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 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 77

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
ptosis
optic atrophy
telecanthus
astigmatism
alacrima
more
Muscle Soft Tissue:
inguinal hernia
hypotonia

Head And Neck Nose:
anteverted nares
broad nasal tip
thick alae nasi

Abdomen External Features:
diastasis recti
abdominal wall laxity

Head And Neck Mouth:
downturned corners of the mouth
thin vermilion of the upper lip

Head And Neck Ears:
fleshy ear lobes

Genitourinary Kidneys:
renal cysts (patient a)

Skeletal Skull:
large anterior fontanel (patient a)
sphenoid wing dysplasia (patient a)

Skeletal Hands:
plantar creases

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (patient a)

Skeletal Spine:
scoliosis

Head And Neck Face:
micrognathia
smooth philtrum
full cheeks
long philtrum
coarse facial features (patient a)

Neurologic Central Nervous System:
epileptic encephalopathy
delayed myelination
enlarged ventricles
seizures, refractory
global developmental delay, profound

Abdomen Gastrointestinal:
poor feeding

Head And Neck Head:
plagiocephaly (patient a)

Chest External Features:
pectus excavatum (patient a)

Genitourinary Bladder:
vesicoureteral reflux (patient a)

Skeletal Limbs:
transient cysts in the long bones (patient a)

Skin Nails Hair Skin:
soft, sagging skin

Laboratory Abnormalities:
increased serum alkaline phosphatase (patient a)

Clinical features from OMIM:

618548

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 77

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 77

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 77

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 77

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 77:

40
Bone, Skin

Publications for Epileptic Encephalopathy, Early Infantile, 77

Articles related to Epileptic Encephalopathy, Early Infantile, 77:

# Title Authors PMID Year
1
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. 56 6
31148362 2019
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 6 56
25558065 2015
3
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 6 56
24463883 2014
4
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
5
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 77

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 77:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGQ NM_004204.4(PIGQ):c.690-2A>GSNV Pathogenic 140458 rs587777543 16:625837-625837 16:575837-575837
2 PIGQ NM_004204.4(PIGQ):c.619C>T (p.Arg207Ter)SNV Pathogenic/Likely pathogenic 183339 rs730882240 16:624693-624693 16:574693-574693
3 PIGQ NM_004204.4(PIGQ):c.1199_1201del (p.Tyr400del)deletion Likely pathogenic 449630 rs766667249 16:628914-628916 16:578914-578916
4 PIGQ NM_004204.4(PIGQ):c.968_969del (p.Leu323fs)deletion Conflicting interpretations of pathogenicity 520669 rs747661902 16:628404-628405 16:578404-578405

Expression for Epileptic Encephalopathy, Early Infantile, 77

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 77.

Pathways for Epileptic Encephalopathy, Early Infantile, 77

GO Terms for Epileptic Encephalopathy, Early Infantile, 77

Sources for Epileptic Encephalopathy, Early Infantile, 77

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
Content
Loading form....