EIEE61
MCID: EPL219
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 61 (EIEE61)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 61

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 61:

Name: Epileptic Encephalopathy, Early Infantile, 61 58 76
Early Infantile Epileptic Encephalopathy 61 12 6
Eiee61 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
rapidly progressive in the first years of life, stable thereafter
one finnish patient has been reported (last curated april 2018)


HPO:

33
epileptic encephalopathy, early infantile, 61:
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 61

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 61: 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. EIEE61 is an autosomal recessive condition characterized by onset of seizures in infancy.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 61, is also known as early infantile epileptic encephalopathy 61. An important gene associated with Epileptic Encephalopathy, Early Infantile, 61 is ADAM22 (ADAM Metallopeptidase Domain 22). Affiliated tissues include brain, liver and eye, and related phenotypes are high palate and seizures

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21.

Description from OMIM: 617933

Related Diseases for Epileptic Encephalopathy, Early Infantile, 61

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, 61

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 61:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 seizures 33 HP:0001250
3 spasticity 33 HP:0001257
4 thick vermilion border 33 HP:0012471
5 epileptic encephalopathy 33 HP:0200134
6 open mouth 33 HP:0000194
7 intellectual disability, profound 33 HP:0002187

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
epileptic encephalopathy
intellectual disability, profound
intractable seizures
lack of voluntary movement
more
Head And Neck Face:
narrow forehead

Head And Neck Eyes:
optic nerve atrophy

Head And Neck Mouth:
open mouth
high-arched palate
full lips

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

617933

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 61

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 61

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 61

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 61

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 61:

42
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 61

Articles related to Epileptic Encephalopathy, Early Infantile, 61:

# Title Authors Year
1
Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy. ( 27066583 )
2016

Variations for Epileptic Encephalopathy, Early Infantile, 61

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 61:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ADAM22 NM_004194.4(ADAM22): c.1202G> A (p.Cys401Tyr) single nucleotide variant Pathogenic rs747259064 GRCh38 Chromosome 7, 88136013: 88136013
2 ADAM22 NM_004194.4(ADAM22): c.1202G> A (p.Cys401Tyr) single nucleotide variant Pathogenic rs747259064 GRCh37 Chromosome 7, 87765328: 87765328
3 ADAM22 NM_004194.4(ADAM22): c.2396delG (p.Ser799Ilefs) deletion Pathogenic rs1554519462 GRCh37 Chromosome 7, 87808345: 87808345
4 ADAM22 NM_004194.4(ADAM22): c.2396delG (p.Ser799Ilefs) deletion Pathogenic rs1554519462 GRCh38 Chromosome 7, 88179030: 88179030

Expression for Epileptic Encephalopathy, Early Infantile, 61

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 61.

Pathways for Epileptic Encephalopathy, Early Infantile, 61

GO Terms for Epileptic Encephalopathy, Early Infantile, 61

Sources for Epileptic Encephalopathy, Early Infantile, 61

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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