DEE60
MCID: DVL084
MIFTS: 23

Developmental and Epileptic Encephalopathy 60 (DEE60)

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 60

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 60:

Name: Developmental and Epileptic Encephalopathy 60 57 12
Developmental and Epileptic Encephalopathy, 60 29 6
Epileptic Encephalopathy, Early Infantile, 60 57 72
Eiee60 57 72
Dee60 57 12
Epileptic Encephalopathy, Early Infantile, 60; Eiee60 57
Early Infantile Epileptic Encephalopathy 60 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset of seizures in the first months of life
patients are bedridden
three patients from 2 unrelated japanese families have been reported (last curated april 2018)


HPO:

31
developmental and epileptic encephalopathy 60:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080432
OMIM® 57 617929
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 60

OMIM® : 57 Developmental and epileptic encephalopathy-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by Mutoh et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. (617929) (Updated 05-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 60, also known as developmental and epileptic encephalopathy, 60, is related to developmental and epileptic encephalopathy. An important gene associated with Developmental and Epileptic Encephalopathy 60 is CNPY3 (Canopy FGF Signaling Regulator 3). Related phenotypes are spastic tetraplegia and intellectual disability, profound

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has material basis in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 60: 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. EIEE60 is an autosomal recessive condition characterized by onset of seizures in the first months of life.

Related Diseases for Developmental and Epileptic Encephalopathy 60

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 60 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 9.5 CNPY3-GNMT CNPY3

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 60

Human phenotypes related to Developmental and Epileptic Encephalopathy 60:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 spastic tetraplegia 31 HP:0002510
2 intellectual disability, profound 31 HP:0002187
3 hypsarrhythmia 31 HP:0002521
4 epileptic encephalopathy 31 HP:0200134
5 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
intellectual disability, profound
epileptic encephalopathy
spastic quadriplegia
delayed psychomotor development, profound
seizures, intractable
more
Growth Other:
poor overall growth

Clinical features from OMIM®:

617929 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 60

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 60

Genetic Tests for Developmental and Epileptic Encephalopathy 60

Genetic tests related to Developmental and Epileptic Encephalopathy 60:

# Genetic test Affiliating Genes
1 Developmental and Epileptic Encephalopathy, 60 29 CNPY3

Anatomical Context for Developmental and Epileptic Encephalopathy 60

Publications for Developmental and Epileptic Encephalopathy 60

Articles related to Developmental and Epileptic Encephalopathy 60:

(showing 1, show less)
# Title Authors PMID Year
1
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy. 6 57
29394991 2018

Variations for Developmental and Epileptic Encephalopathy 60

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 60:

6 (showing 11, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.702_720dup (p.Ser241delinsGlySerArgArgGlnGluTer) Duplication Pathogenic 518430 rs1554123960 GRCh37: 6:42906393-42906394
GRCh38: 6:42938655-42938656
2 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.495+1G>A SNV Pathogenic 518431 rs1554292820 GRCh37: 6:42905578-42905578
GRCh38: 6:42937840-42937840
3 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.373G>C (p.Gly125Arg) SNV Pathogenic 518429 rs1554292759 GRCh37: 6:42905455-42905455
GRCh38: 6:42937717-42937717
4 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.734_737del (p.Gln245fs) Deletion Likely pathogenic 932071 GRCh37: 6:42906426-42906429
GRCh38: 6:42938688-42938691
5 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter) SNV Likely pathogenic 870182 GRCh37: 6:42906320-42906320
GRCh38: 6:42938582-42938582
6 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.362G>A (p.Arg121Gln) SNV Uncertain significance 870183 GRCh37: 6:42903398-42903398
GRCh38: 6:42935660-42935660
7 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.199G>A (p.Gly67Ser) SNV Uncertain significance 1028525 GRCh37: 6:42902260-42902260
GRCh38: 6:42934522-42934522
8 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.674A>G (p.Lys225Arg) SNV Uncertain significance 1028526 GRCh37: 6:42906366-42906366
GRCh38: 6:42938628-42938628
9 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.276-32G>A SNV Uncertain significance 1030425 GRCh37: 6:42903280-42903280
GRCh38: 6:42935542-42935542
10 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.637G>A (p.Gly213Ser) SNV Uncertain significance 1032459 GRCh37: 6:42906329-42906329
GRCh38: 6:42938591-42938591
11 CNPY3-GNMT , CNPY3 NM_006586.5(CNPY3):c.496-3_496-2del Deletion Uncertain significance 800988 rs1581718297 GRCh37: 6:42905824-42905825
GRCh38: 6:42938086-42938087

Expression for Developmental and Epileptic Encephalopathy 60

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 60.

Pathways for Developmental and Epileptic Encephalopathy 60

GO Terms for Developmental and Epileptic Encephalopathy 60

Sources for Developmental and Epileptic Encephalopathy 60

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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