EIEE61
MCID: EPL219
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 61 (EIEE61)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 75
Eiee61 57 75
Early Infantile Epileptic Encephalopathy 61 6

Characteristics:

OMIM:

57
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:

32
epileptic encephalopathy, early infantile, 61:
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 61

UniProtKB/Swiss-Prot : 75 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 eiee61. 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

Description from OMIM: 617933

Related Diseases for Epileptic Encephalopathy, Early Infantile, 61

Diseases in the 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, 25
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
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 61

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
intellectual disability, profound
epileptic encephalopathy
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 seizures 32 HP:0001250
3 spasticity 32 HP:0001257
4 thick vermilion border 32 HP:0012471
5 open mouth 32 HP:0000194
6 intellectual disability, profound 32 HP:0002187
7 epileptic encephalopathy 32 HP:0200134

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:

41
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 61

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 GRCh37 Chromosome 7, 87808345: 87808345
4 ADAM22 NM_004194.4(ADAM22): c.2396delG (p.Ser799Ilefs) deletion Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....