DEE80
MCID: DVL103
MIFTS: 29

Developmental and Epileptic Encephalopathy 80 (DEE80)

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 80

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 80:

Name: Developmental and Epileptic Encephalopathy 80 57 12
Glycosylphosphatidylinositol Biosynthesis Defect 20 57 12 73
Gpibd20 57 12 73
Developmental and Epileptic Encephalopathy, 80 29 6
Epileptic Encephalopathy, Early Infantile, 80 57 73
Eiee80 57 73
Dee80 57 12
Glycosylphosphatidylinositol Biosynthesis Defect 20; Gpibd20 57
Epileptic Encephalopathy, Early Infantile, 80; Eiee80 57
Early Infantile Epileptic Encephalopathy 80 12

Characteristics:

OMIM®:

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

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


HPO:

31
developmental and epileptic encephalopathy 80:
Onset and clinical course death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 80

OMIM® : 57 Developmental and epileptic encephalopathy-80 (DEE80) is an autosomal recessive neurologic disorder characterized by the 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 DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (618580) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 80, is also known as glycosylphosphatidylinositol biosynthesis defect 20. An important gene associated with Developmental and Epileptic Encephalopathy 80 is PIGB (Phosphatidylinositol Glycan Anchor Biosynthesis Class B). Affiliated tissues include tongue and brain, and related phenotypes are high palate and coarse facial features

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has material basis in homozygous or compound heterozygous mutation in PIGB on chromosome 15q21.3.

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 Developmental and Epileptic Encephalopathy 80

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 80

Human phenotypes related to Developmental and Epileptic Encephalopathy 80:

31 (show all 43)
# Description HPO Frequency HPO Source Accession
1 high palate 31 very rare (1%) HP:0000218
2 coarse facial features 31 very rare (1%) HP:0000280
3 hearing impairment 31 very rare (1%) HP:0000365
4 global developmental delay 31 very rare (1%) HP:0001263
5 wide nasal bridge 31 very rare (1%) HP:0000431
6 smooth philtrum 31 very rare (1%) HP:0000319
7 micrognathia 31 very rare (1%) HP:0000347
8 low-set ears 31 very rare (1%) HP:0000369
9 wide mouth 31 very rare (1%) HP:0000154
10 upslanted palpebral fissure 31 very rare (1%) HP:0000582
11 protruding tongue 31 very rare (1%) HP:0010808
12 overfolded helix 31 very rare (1%) HP:0000396
13 long philtrum 31 very rare (1%) HP:0000343
14 areflexia 31 very rare (1%) HP:0001284
15 ventriculomegaly 31 very rare (1%) HP:0002119
16 proptosis 31 very rare (1%) HP:0000520
17 hyporeflexia 31 very rare (1%) HP:0001265
18 polymicrogyria 31 very rare (1%) HP:0002126
19 tented upper lip vermilion 31 very rare (1%) HP:0010804
20 triphalangeal thumb 31 very rare (1%) HP:0001199
21 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
22 posteriorly rotated ears 31 very rare (1%) HP:0000358
23 generalized hypotonia 31 very rare (1%) HP:0001290
24 small nail 31 very rare (1%) HP:0001792
25 uplifted earlobe 31 very rare (1%) HP:0009909
26 narrow forehead 31 very rare (1%) HP:0000341
27 elevated alkaline phosphatase 31 very rare (1%) HP:0003155
28 increased urine alpha-ketoglutarate concentration 31 very rare (1%) HP:0012402
29 seizure 31 very rare (1%) HP:0001250
30 failure to thrive 31 HP:0001508
31 hypertelorism 31 HP:0000316
32 visual impairment 31 HP:0000505
33 full cheeks 31 HP:0000293
34 growth delay 31 HP:0001510
35 talipes equinovarus 31 HP:0001762
36 pointed chin 31 HP:0000307
37 short distal phalanx of finger 31 HP:0009882
38 tapered finger 31 HP:0001182
39 optic disc pallor 31 HP:0000543
40 feeding difficulties 31 HP:0011968
41 peripheral axonal neuropathy 31 HP:0003477
42 sensorimotor neuropathy 31 HP:0007141
43 abnormal visual fixation 31 HP:0025404

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Growth Other:
failure to thrive
poor growth

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

Head And Neck Face:
smooth philtrum
full cheeks
micrognathia
long philtrum
pointed chin
more
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
degenerative axonal neuropathy
demyelinating sensorimotor neuropathy

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 Feet:
short distal phalanges
pes equinovarus

Neurologic Central Nervous System:
global developmental delay
polymicrogyria
enlarged ventricles
seizures, refractory
impaired intellectual development
more
Head And Neck Nose:
wide nasal bridge
broad nasal bridge

Head And Neck Mouth:
protruding tongue
tented mouth

Abdomen Gastrointestinal:
feeding difficulties

Muscle Soft Tissue:
hypotonia

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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 80

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 80

Genetic Tests for Developmental and Epileptic Encephalopathy 80

Genetic tests related to Developmental and Epileptic Encephalopathy 80:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 80 29 PIGB

Anatomical Context for Developmental and Epileptic Encephalopathy 80

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 80:

40
Tongue, Brain

Publications for Developmental and Epileptic Encephalopathy 80

Articles related to Developmental and Epileptic Encephalopathy 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. 6 57
31256876 2019
2
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. 57 6
17343268 2007

Variations for Developmental and Epileptic Encephalopathy 80

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 80:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGBOS1 NM_004855.5(PIGB):c.212G>A (p.Arg71Gln) SNV Pathogenic 689514 rs369838467 15:55612521-55612521 15:55320323-55320323
2 PIGB NM_004855.5(PIGB):c.1162G>C (p.Ala388Pro) SNV Pathogenic 689515 rs1595805026 15:55642935-55642935 15:55350737-55350737
3 PIGBOS1 NM_004855.5(PIGB):c.856G>C (p.Val286Leu) SNV Pathogenic 689516 rs1595791368 15:55632819-55632819 15:55340621-55340621
4 PIGBOS1 NM_004855.5(PIGB):c.695G>A (p.Arg232His) SNV Pathogenic 689517 rs758196959 15:55626106-55626106 15:55333908-55333908
5 PIGB NM_004855.5(PIGB):c.1220A>G (p.His407Arg) SNV Pathogenic 561082 rs1566960044 15:55642993-55642993 15:55350795-55350795
6 PIGBOS1 NM_004855.5(PIGB):c.847-10A>G SNV Pathogenic 689519 rs779296101 15:55632800-55632800 15:55340602-55340602
7 PIGBOS1 NM_004855.5(PIGB):c.392T>G (p.Leu131Ter) SNV Pathogenic 976714 15:55613563-55613563 15:55321365-55321365
8 DNAAF4-CCPG1 NM_004855.5(PIGB):c.1611A>G (p.Ile537Met) SNV Pathogenic 976715 15:55647576-55647576 15:55355378-55355378
9 PIGBOS1 NM_004855.5(PIGB):c.463G>C (p.Asp155His) SNV Likely pathogenic 995863 15:55619774-55619774 15:55327576-55327576

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 80:

73
# Symbol AA change Variation ID SNP ID
1 PIGB p.Arg71Gln VAR_083070 rs369838467
2 PIGB p.Ser90Pro VAR_083071
3 PIGB p.Arg232His VAR_083074 rs758196959
4 PIGB p.Val286Leu VAR_083076
5 PIGB p.Ala388Pro VAR_083077
6 PIGB p.His407Arg VAR_083078 rs156696004

Expression for Developmental and Epileptic Encephalopathy 80

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 80.

Pathways for Developmental and Epileptic Encephalopathy 80

GO Terms for Developmental and Epileptic Encephalopathy 80

Sources for Developmental and Epileptic Encephalopathy 80

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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