EIEE60
MCID: EPL218
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 60 (EIEE60)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 60

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 60:

Name: Epileptic Encephalopathy, Early Infantile, 60 58 76 6
Eiee60 58 76
Early Infantile Epileptic Encephalopathy 60 12

Characteristics:

OMIM:

58
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)


Classifications:



External Ids:

Disease Ontology 12 DOID:0080432
OMIM 58 617929
MeSH 45 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 60

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 60, is also known as eiee60. An important gene associated with Epileptic Encephalopathy, Early Infantile, 60 is CNPY3 (Canopy FGF Signaling Regulator 3). Affiliated tissues include liver and eye, and related phenotypes are seizures and spastic tetraplegia

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.

Description from OMIM: 617929

Related Diseases for Epileptic Encephalopathy, Early Infantile, 60

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 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 60

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 60:

33
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 spastic tetraplegia 33 HP:0002510
3 epileptic encephalopathy 33 HP:0200134
4 hypsarrhythmia 33 HP:0002521
5 intellectual disability, profound 33 HP:0002187

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
epileptic encephalopathy
intellectual disability, profound
spastic quadriplegia
delayed psychomotor development, profound
seizures, intractable
more
Growth Other:
poor overall growth

Clinical features from OMIM:

617929

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 60

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 60

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 60

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 60

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 60:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 60

Articles related to Epileptic Encephalopathy, Early Infantile, 60:

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

Variations for Epileptic Encephalopathy, Early Infantile, 60

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 60:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CNPY3 NM_006586.4(CNPY3): c.373G> C (p.Gly125Arg) single nucleotide variant Pathogenic rs1554292759 GRCh38 Chromosome 6, 42937717: 42937717
2 CNPY3 NM_006586.4(CNPY3): c.373G> C (p.Gly125Arg) single nucleotide variant Pathogenic rs1554292759 GRCh37 Chromosome 6, 42905455: 42905455
3 CNPY3 NM_006586.4(CNPY3): c.702_720dup (p.Ser241Glyfs) duplication Pathogenic rs1554123960 GRCh37 Chromosome 6, 42906394: 42906412
4 CNPY3 NM_006586.4(CNPY3): c.702_720dup (p.Ser241Glyfs) duplication Pathogenic rs1554123960 GRCh38 Chromosome 6, 42938656: 42938674
5 CNPY3 NM_006586.4(CNPY3): c.495+1G> A single nucleotide variant Pathogenic rs1554292820 GRCh37 Chromosome 6, 42905578: 42905578
6 CNPY3 NM_006586.4(CNPY3): c.495+1G> A single nucleotide variant Pathogenic rs1554292820 GRCh38 Chromosome 6, 42937840: 42937840

Expression for Epileptic Encephalopathy, Early Infantile, 60

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 60.

Pathways for Epileptic Encephalopathy, Early Infantile, 60

GO Terms for Epileptic Encephalopathy, Early Infantile, 60

Sources for Epileptic Encephalopathy, Early Infantile, 60

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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