MCID: EPL226
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 66

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 6
Eiee66 57

Characteristics:

OMIM:

57
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

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). Affiliated tissues include liver and eye, and related phenotypes are hypertelorism and nystagmus

Description from OMIM: 618067

Related Diseases for Epileptic Encephalopathy, Early Infantile, 66

Diseases in the 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, 25
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
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 66

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 nystagmus 32 HP:0000639
3 intellectual disability 32 HP:0001249
4 seizures 32 HP:0001250
5 global developmental delay 32 HP:0001263
6 delayed speech and language development 32 HP:0000750
7 anemia 32 very rare (1%) HP:0001903
8 strabismus 32 HP:0000486
9 myopia 32 HP:0000545
10 wide mouth 32 HP:0000154
11 downslanted palpebral fissures 32 HP:0000494
12 downturned corners of mouth 32 HP:0002714
13 thin upper lip vermilion 32 HP:0000219
14 neutropenia 32 very rare (1%) HP:0001875
15 synophrys 32 HP:0000664
16 astigmatism 32 HP:0000483
17 autistic behavior 32 HP:0000729
18 epileptic encephalopathy 32 HP:0200134
19 hypermetropia 32 HP:0000540
20 broad-based gait 32 HP:0002136
21 enlarged cisterna magna 32 HP:0002280
22 delayed ability to walk 32 HP:0031936

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

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 66:

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 66

Variations for Epileptic Encephalopathy, Early Infantile, 66

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 GRCh38 Chromosome 14, 105368112: 105368112
2 PACS2 NM_001100913.2(PACS2): c.625G> A (p.Glu209Lys) single nucleotide variant Likely pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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