DEE66
MCID: DVL090
MIFTS: 29

Developmental and Epileptic Encephalopathy 66 (DEE66)

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 66

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 66:

Name: Developmental and Epileptic Encephalopathy 66 57 12
Developmental and Epileptic Encephalopathy, 66 29 6
Epileptic Encephalopathy, Early Infantile, 66 57 72
Early Infantile Epileptic Encephalopathy 66 12 15
Eiee66 57 72
Dee66 57 12
Epileptic Encephalopathy, Early Infantile, 66; Eiee66 57
Encephalopathy, Epileptic, Early Infantile, Type 66 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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


HPO:

31
developmental and epileptic encephalopathy 66:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 66

OMIM® : 57 Developmental and epileptic encephalopathy-66 (DEE66) is a neurologic disorder characterized by the onset of various types of seizures in the first days or weeks of life. Most seizures have focal origins; secondary generalization is common. Seizure control is difficult at first, but may become easier with time. Affected individuals show global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects. Brain imaging often shows cerebellar dysgenesis. A subset of patients have extraneurologic manifestations, including hematologic and distal limb abnormalities (summary by Olson et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (618067) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 66, also known as developmental and epileptic encephalopathy, 66, is related to autosomal dominant non-syndromic intellectual disability and neurooculocardiogenitourinary syndrome. An important gene associated with Developmental and Epileptic Encephalopathy 66 is PACS2 (Phosphofurin Acidic Cluster Sorting Protein 2). Related phenotypes are anemia and abnormal cardiac septum morphology

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has material basis in heterozygous mutation in the PACS2 gene on chromosome 14q32.

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Developmental and Epileptic Encephalopathy 66

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 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 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 93
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

Diseases related to Developmental and Epileptic Encephalopathy 66 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 9.5 WDR37 PACS1
2 neurooculocardiogenitourinary syndrome 9.3 WDR37 PACS2 PACS1

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 66

Human phenotypes related to Developmental and Epileptic Encephalopathy 66:

31 (showing 28, show less)
# Description HPO Frequency HPO Source Accession
1 anemia 31 very rare (1%) HP:0001903
2 abnormal cardiac septum morphology 31 very rare (1%) HP:0001671
3 neutropenia 31 very rare (1%) HP:0001875
4 intellectual disability 31 HP:0001249
5 nystagmus 31 HP:0000639
6 coarse facial features 31 HP:0000280
7 global developmental delay 31 HP:0001263
8 hypertelorism 31 HP:0000316
9 wide nasal bridge 31 HP:0000431
10 delayed speech and language development 31 HP:0000750
11 strabismus 31 HP:0000486
12 cryptorchidism 31 HP:0000028
13 myopia 31 HP:0000545
14 wide mouth 31 HP:0000154
15 downslanted palpebral fissures 31 HP:0000494
16 downturned corners of mouth 31 HP:0002714
17 clinodactyly of the 5th finger 31 HP:0004209
18 thin upper lip vermilion 31 HP:0000219
19 synophrys 31 HP:0000664
20 broad-based gait 31 HP:0002136
21 astigmatism 31 HP:0000483
22 autistic behavior 31 HP:0000729
23 generalized hypotonia 31 HP:0001290
24 hypermetropia 31 HP:0000540
25 epileptic encephalopathy 31 HP:0200134
26 enlarged cisterna magna 31 HP:0002280
27 delayed ability to walk 31 HP:0031936
28 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability
epileptic encephalopathy
wide-based gait
speech delay
delayed psychomotor development
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

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
stereotypies

Cardiovascular Heart:
septal defects (in some patients)

Head And Neck Eyes:
nystagmus
hypertelorism
strabismus
myopia
synophrys
more
Genitourinary External Genitalia Male:
cryptorchidism

Muscle Soft Tissue:
hypotonia

Head And Neck Nose:
broad nasal root

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

Clinical features from OMIM®:

618067 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Developmental and Epileptic Encephalopathy 66 according to GeneCards Suite gene sharing:

26 (showing 1, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased JFH-1 genotype 2a Hepatitis C virus (HCV) infection after direct virus infection GR00233-A-2 8.62 BRF1 WDR37

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 66

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 66

Genetic Tests for Developmental and Epileptic Encephalopathy 66

Genetic tests related to Developmental and Epileptic Encephalopathy 66:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 66 29 PACS2

Anatomical Context for Developmental and Epileptic Encephalopathy 66

Publications for Developmental and Epileptic Encephalopathy 66

Articles related to Developmental and Epileptic Encephalopathy 66:

(showing 2, show less)
# Title Authors PMID Year
1
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. 57
29656858 2018
2
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis. 61
33369122 2021

Variations for Developmental and Epileptic Encephalopathy 66

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 66:

6 (showing 5, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PACS2 NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) SNV Pathogenic 495141 rs1555408401 GRCh37: 14:105834449-105834449
GRCh38: 14:105368112-105368112
2 BRF1 , PACS2 NM_001100913.3(PACS2):c.58G>A (p.Val20Met) SNV Uncertain significance 1029076 GRCh37: 14:105781313-105781313
GRCh38: 14:105314976-105314976
3 PACS2 NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn) SNV Uncertain significance 930460 GRCh37: 14:105848363-105848363
GRCh38: 14:105382026-105382026
4 PACS2 NM_001100913.3(PACS2):c.2218T>A (p.Ser740Thr) SNV Uncertain significance 931044 GRCh37: 14:105858066-105858066
GRCh38: 14:105391729-105391729
5 PACS2 NM_001100913.3(PACS2):c.369C>A (p.Asn123Lys) SNV Uncertain significance 986735 GRCh37: 14:105821460-105821460
GRCh38: 14:105355123-105355123

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 66:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PACS2 p.Glu209Lys VAR_081137 rs155540840

Expression for Developmental and Epileptic Encephalopathy 66

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 66.

Pathways for Developmental and Epileptic Encephalopathy 66

GO Terms for Developmental and Epileptic Encephalopathy 66

Biological processes related to Developmental and Epileptic Encephalopathy 66 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 protein localization to plasma membrane GO:0072659 8.62 PACS2 PACS1

Molecular functions related to Developmental and Epileptic Encephalopathy 66 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 8.62 PACS2 PACS1

Sources for Developmental and Epileptic Encephalopathy 66

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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