EIEE66
MCID: EPL226
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 66 (EIEE66)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 66

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 66:

Name: Epileptic Encephalopathy, Early Infantile, 66 58 76 6
Eiee66 58 76
Early Infantile Epileptic Encephalopathy 66 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable extraneurologic features
onset of seizures in first days or weeks of life
seizures may attenuate somewhat after the first year of life


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 66

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 66: 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. EIEE66 is an autosomal dominant form characterized by onset of seizures in first days or weeks of life.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 66, is also known as eiee66. An important gene associated with Epileptic Encephalopathy, Early Infantile, 66 is PACS2 (Phosphofurin Acidic Cluster Sorting Protein 2). Related phenotypes are anemia and neutropenia

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the PACS2 gene on chromosome 14q32.

Description from OMIM: 618067

Related Diseases for Epileptic Encephalopathy, Early Infantile, 66

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 66

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 66:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 anemia 33 very rare (1%) HP:0001903
2 neutropenia 33 very rare (1%) HP:0001875
3 hypertelorism 33 HP:0000316
4 nystagmus 33 HP:0000639
5 intellectual disability 33 HP:0001249
6 seizures 33 HP:0001250
7 global developmental delay 33 HP:0001263
8 delayed speech and language development 33 HP:0000750
9 strabismus 33 HP:0000486
10 myopia 33 HP:0000545
11 wide mouth 33 HP:0000154
12 downslanted palpebral fissures 33 HP:0000494
13 downturned corners of mouth 33 HP:0002714
14 thin upper lip vermilion 33 HP:0000219
15 synophrys 33 HP:0000664
16 astigmatism 33 HP:0000483
17 autistic behavior 33 HP:0000729
18 epileptic encephalopathy 33 HP:0200134
19 hypermetropia 33 HP:0000540
20 broad-based gait 33 HP:0002136
21 enlarged cisterna magna 33 HP:0002280
22 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
nystagmus
strabismus
myopia
synophrys
more
Head And Neck Face:
coarse facial features

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

Skeletal Hands:
fifth finger clinodactyly

Hematology:
anemia (in some patients)
neutropenia (in some patients)

Cardiovascular Heart:
septal defects (in some patients)

Neurologic Central Nervous System:
intellectual disability
epileptic encephalopathy
wide-based gait
delayed psychomotor development
speech delay
more
Genitourinary External Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
broad nasal root

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
stereotypies

Clinical features from OMIM:

618067

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 66

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 66

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 66

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 66

Publications for Epileptic Encephalopathy, Early Infantile, 66

Variations for Epileptic Encephalopathy, Early Infantile, 66

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 66:

76
# Symbol AA change Variation ID SNP ID
1 PACS2 p.Glu209Lys VAR_081137

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 66:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PACS2 NM_001100913.2(PACS2): c.625G> A (p.Glu209Lys) single nucleotide variant Likely pathogenic rs1555408401 GRCh38 Chromosome 14, 105368112: 105368112
2 PACS2 NM_001100913.2(PACS2): c.625G> A (p.Glu209Lys) single nucleotide variant Likely pathogenic rs1555408401 GRCh37 Chromosome 14, 105834449: 105834449

Expression for Epileptic Encephalopathy, Early Infantile, 66

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 66.

Pathways for Epileptic Encephalopathy, Early Infantile, 66

GO Terms for Epileptic Encephalopathy, Early Infantile, 66

Sources for Epileptic Encephalopathy, Early Infantile, 66

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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