DEE87
MCID: DVL109
MIFTS: 24

Developmental and Epileptic Encephalopathy 87 (DEE87)

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 87

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 87:

Name: Developmental and Epileptic Encephalopathy 87 57 12
Epileptic Encephalopathy, Early Infantile, 87 57 73
Eiee87 57 73
Dee87 57 12
Epileptic Encephalopathy, Early Infantile, 87; Eiee87 57
Developmental and Epileptic Encephalopathy, 87 6
Early Infantile Epileptic Encephalopathy 87 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
de novo mutation
three unrelated patients have been reported (last curated june 2020)


HPO:

31
developmental and epileptic encephalopathy 87:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 87

OMIM® : 57 Developmental and epileptic encephalopathy-87 (DEE87) is a neurologic disorder characterized by global developmental delay, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age. Affected individuals have severely impaired motor and cognitive development with little or absent speech and poor visual tracking. More variable features include facial dysmorphisms, joint laxity, and nonspecific brain imaging findings (summary by Chung et al., 2020). (618916) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 87, is also known as epileptic encephalopathy, early infantile, 87. An important gene associated with Developmental and Epileptic Encephalopathy 87 is CDK19 (Cyclin Dependent Kinase 19). Affiliated tissues include brain, and related phenotypes are intellectual disability and scoliosis

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has material basis in heterozygous mutation in CDK19 on chromosome 6q21.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 87: 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. EIEE87 inheritance is autosomal dominant.

Related Diseases for Developmental and Epileptic Encephalopathy 87

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 87

Human phenotypes related to Developmental and Epileptic Encephalopathy 87:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 scoliosis 31 very rare (1%) HP:0002650
3 high palate 31 very rare (1%) HP:0000218
4 global developmental delay 31 very rare (1%) HP:0001263
5 hypertelorism 31 very rare (1%) HP:0000316
6 widely spaced teeth 31 very rare (1%) HP:0000687
7 hypertonia 31 very rare (1%) HP:0001276
8 wide mouth 31 very rare (1%) HP:0000154
9 bulbous nose 31 very rare (1%) HP:0000414
10 hypotelorism 31 very rare (1%) HP:0000601
11 midface retrusion 31 very rare (1%) HP:0011800
12 infantile spasms 31 very rare (1%) HP:0012469
13 prominent nose 31 very rare (1%) HP:0000448
14 cerebral atrophy 31 very rare (1%) HP:0002059
15 u-shaped upper lip vermilion 31 very rare (1%) HP:0010806
16 horizontal eyebrow 31 very rare (1%) HP:0011228
17 delayed cns myelination 31 very rare (1%) HP:0002188
18 single transverse palmar crease 31 HP:0000954
19 hypsarrhythmia 31 HP:0002521
20 recurrent hand flapping 31 HP:0100023

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
developmental regression
global developmental delay
cerebral atrophy
inability to walk
epileptic encephalopathy
more
Skeletal:
joint laxity

Head And Neck Nose:
prominent nose
bulbous tip

Head And Neck Mouth:
large mouth

Head And Neck Teeth:
widely spaced teeth

Head And Neck Eyes:
hypotelorism
straight eyebrows

Head And Neck Face:
midface hypoplasia
dysmorphic facial features

Skeletal Spine:
scoliosis (in some patients)

Clinical features from OMIM®:

618916 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Developmental and Epileptic Encephalopathy 87 according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.8 AMD1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.8 AMD1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.8 AMD1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.8 AMD1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.8 AMD1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.8 AMD1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.8 CDK19
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.8 CDK19
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.8 AMD1 CDK19
10 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.8 CDK19
11 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.8 CDK19
12 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.8 CDK19
13 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.8 AMD1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.8 AMD1

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 87

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 87

Genetic Tests for Developmental and Epileptic Encephalopathy 87

Anatomical Context for Developmental and Epileptic Encephalopathy 87

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 87:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 87

Articles related to Developmental and Epileptic Encephalopathy 87:

# Title Authors PMID Year
1
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. 6 57
32330417 2020

Variations for Developmental and Epileptic Encephalopathy 87

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 87:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AMD1 NM_015076.5(CDK19):c.82G>C (p.Gly28Arg) SNV Pathogenic 973822 6:111136258-111136258 6:110815055-110815055
2 AMD1 NM_015076.5(CDK19):c.82G>A (p.Gly28Arg) SNV Pathogenic 975815 6:111136258-111136258 6:110815055-110815055
3 CDK19 NM_015076.5(CDK19):c.586A>G (p.Thr196Ala) SNV Pathogenic 929847 6:110953293-110953293 6:110632090-110632090
4 AMD1 NM_015076.5(CDK19):c.94T>C (p.Tyr32His) SNV Pathogenic 929848 6:111136246-111136246 6:110815043-110815043
5 AMD1 NM_015076.5(CDK19):c.92C>A (p.Thr31Asn) SNV Likely pathogenic 973853 6:111136248-111136248 6:110815045-110815045
6 AMD1 NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys) SNV Likely pathogenic 975816 6:111136245-111136245 6:110815042-110815042
7 CDK19 NM_015076.5(CDK19):c.589T>C (p.Phe197Leu) SNV Likely pathogenic 975817 6:110953290-110953290 6:110632087-110632087
8 CDK19 NM_015076.5(CDK19):c.594G>C (p.Trp198Cys) SNV Uncertain significance 975818 6:110953285-110953285 6:110632082-110632082

Expression for Developmental and Epileptic Encephalopathy 87

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 87.

Pathways for Developmental and Epileptic Encephalopathy 87

GO Terms for Developmental and Epileptic Encephalopathy 87

Sources for Developmental and Epileptic Encephalopathy 87

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
Content
Loading form....