DEE61
MCID: DVL085
MIFTS: 22

Developmental and Epileptic Encephalopathy 61 (DEE61)

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 61

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 61:

Name: Developmental and Epileptic Encephalopathy 61 57 12
Early Infantile Epileptic Encephalopathy 61 12 29 6
Epileptic Encephalopathy, Early Infantile, 61 57 72
Eiee61 57 72
Dee61 57 12
Epileptic Encephalopathy, Early Infantile, 61; Eiee61 57
Encephalopathy, Epileptic, Early Infantile, Type 61 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
developmental and epileptic encephalopathy 61:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080434
OMIM® 57 617933
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 61

OMIM® : 57 Developmental and epileptic encephalopathy-61 (DEE61) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in the first months or years of life. There is profound global developmental delay with intellectual disability, inability to walk, poor voluntary movements, spasticity, microcephaly, cerebral atrophy, and dysmorphic facial features (summary by Muona et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617933) (Updated 05-Apr-2021)

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

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

UniProtKB/Swiss-Prot : 72 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.

Related Diseases for Developmental and Epileptic Encephalopathy 61

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

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 61

Human phenotypes related to Developmental and Epileptic Encephalopathy 61:

31 (showing 10, show less)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 high palate 31 HP:0000218
3 thick vermilion border 31 HP:0012471
4 optic atrophy 31 HP:0000648
5 open mouth 31 HP:0000194
6 intellectual disability, profound 31 HP:0002187
7 generalized hypotonia 31 HP:0001290
8 narrow forehead 31 HP:0000341
9 epileptic encephalopathy 31 HP:0200134
10 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 61

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 61

Genetic Tests for Developmental and Epileptic Encephalopathy 61

Genetic tests related to Developmental and Epileptic Encephalopathy 61:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 61 29 ADAM22

Anatomical Context for Developmental and Epileptic Encephalopathy 61

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 61:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 61

Articles related to Developmental and Epileptic Encephalopathy 61:

(showing 2, show less)
# Title Authors PMID Year
1
Autozygome and high throughput confirmation of disease genes candidacy. 6 57
30237576 2019
2
Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy. 6 57
27066583 2016

Variations for Developmental and Epileptic Encephalopathy 61

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 61:

6 (showing 3, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADAM22 NM_004194.4(ADAM22):c.1202G>A (p.Cys401Tyr) SNV Pathogenic 518457 rs747259064 GRCh37: 7:87765328-87765328
GRCh38: 7:88136013-88136013
2 ADAM22 NM_016351.6(ADAM22):c.2301-2475del Deletion Pathogenic 518458 rs1554519462 GRCh37: 7:87808345-87808345
GRCh38: 7:88179030-88179030
3 ADAM22 NM_001324421.2(ADAM22):c.2469-3246C>T SNV Pathogenic 997684 GRCh37: 7:87822540-87822540
GRCh38: 7:88193225-88193225

Expression for Developmental and Epileptic Encephalopathy 61

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 61.

Pathways for Developmental and Epileptic Encephalopathy 61

GO Terms for Developmental and Epileptic Encephalopathy 61

Sources for Developmental and Epileptic Encephalopathy 61

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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