DEE48
MCID: DVL073
MIFTS: 25

Developmental and Epileptic Encephalopathy 48 (DEE48)

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 48

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 48:

Name: Developmental and Epileptic Encephalopathy 48 57 12
Epileptic Encephalopathy, Early Infantile, 48 57 72 29 6
Eiee48 57 72
Dee48 57 12
Epileptic Encephalopathy, Early Infantile, 48; Eiee48 57
Early Infantile Epileptic Encephalopathy 48 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in early infancy


HPO:

31
developmental and epileptic encephalopathy 48:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080448
OMIM® 57 617276
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 48

UniProtKB/Swiss-Prot : 72 Epileptic encephalopathy, early infantile, 48: 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. EIEE48 is an autosomal recessive form characterized by onset of seizures in the first year of life. Affected individuals manifest global developmental delay, intellectual disability, absent speech, and poor, if any, motor development.

MalaCards based summary : Developmental and Epileptic Encephalopathy 48, is also known as epileptic encephalopathy, early infantile, 48. An important gene associated with Developmental and Epileptic Encephalopathy 48 is AP3B2 (Adaptor Related Protein Complex 3 Subunit Beta 2). Affiliated tissues include eye, and related phenotypes are microcephaly and hypoplasia of the corpus callosum

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has material basis in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25.

OMIM® : 57 Developmental and epileptic encephalopathy-48 (DEE48) is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech; poor, if any, motor development; and onset of seizures usually in the first year of life, although later onset has been reported. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617276) (Updated 05-Apr-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 48

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 48

Human phenotypes related to Developmental and Epileptic Encephalopathy 48:

31 (showing 13, show less)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 occasional (7.5%) HP:0000252
2 hypoplasia of the corpus callosum 31 occasional (7.5%) HP:0002079
3 cerebellar atrophy 31 occasional (7.5%) HP:0001272
4 status epilepticus 31 occasional (7.5%) HP:0002133
5 cerebral atrophy 31 occasional (7.5%) HP:0002059
6 hypsarrhythmia 31 occasional (7.5%) HP:0002521
7 global developmental delay 31 HP:0001263
8 dyskinesia 31 HP:0100660
9 absent speech 31 HP:0001344
10 rod-cone dystrophy 31 HP:0000510
11 poor eye contact 31 HP:0000817
12 generalized hypotonia 31 HP:0001290
13 epileptic encephalopathy 31 HP:0200134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
poor eye contact
optic nerve pallor (in some patients)
retinitis pigmentosa (in 1 family)

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
epileptic encephalopathy
seizures, refractory
sleep disorder
dyskinesias
cerebellar atrophy (in some patients)
more
Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

617276 (Updated 05-Apr-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 48

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 48

Genetic Tests for Developmental and Epileptic Encephalopathy 48

Genetic tests related to Developmental and Epileptic Encephalopathy 48:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 48 29 AP3B2

Anatomical Context for Developmental and Epileptic Encephalopathy 48

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 48:

40
Eye

Publications for Developmental and Epileptic Encephalopathy 48

Articles related to Developmental and Epileptic Encephalopathy 48:

(showing 2, show less)
# Title Authors PMID Year
1
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 6 57
27431290 2017
2
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. 6 57
27889060 2016

Variations for Developmental and Epileptic Encephalopathy 48

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 48:

6 (showing 15, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.1489-245_1665+2029del Deletion Pathogenic 374848 GRCh37: 15:83343184-83345634
GRCh38: 15:82674432-82676882
2 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.1837del (p.Glu613fs) Deletion Pathogenic 374851 rs1057519272 GRCh37: 15:83335514-83335514
GRCh38: 15:82666762-82666762
3 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.1182G>A (p.Lys394=) SNV Pathogenic 374846 rs1057519269 GRCh37: 15:83348481-83348481
GRCh38: 15:82679729-82679729
4 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.2579_2582del (p.Leu860fs) Deletion Pathogenic 374849 rs1057519271 GRCh37: 15:83331901-83331904
GRCh38: 15:82663149-82663152
5 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.199C>T (p.Arg67Ter) SNV Pathogenic 374850 rs775024756 GRCh37: 15:83357975-83357975
GRCh38: 15:82689223-82689223
6 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.1110+1G>C SNV Pathogenic 374847 rs1057519270 GRCh37: 15:83348926-83348926
GRCh38: 15:82680174-82680174
7 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.940C>T (p.Gln314Ter) SNV Pathogenic 1031455 GRCh37: 15:83349339-83349339
GRCh38: 15:82680587-82680587
8 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.392_394del (p.Leu131del) Deletion Likely pathogenic 803113 rs1596183293 GRCh37: 15:83350299-83350301
GRCh38: 15:82681547-82681549
9 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer) Deletion Likely pathogenic 800531 rs1481189891 GRCh37: 15:83349685-83349686
GRCh38: 15:82680933-82680934
10 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.3143C>A (p.Ser1048Tyr) SNV Uncertain significance 786277 rs147455569 GRCh37: 15:83328609-83328609
GRCh38: 15:82659857-82659857
11 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.3293C>A (p.Ala1098Asp) SNV Uncertain significance 1031454 GRCh37: 15:83328325-83328325
GRCh38: 15:82659573-82659573
12 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.1183-19T>G SNV Uncertain significance 1034104 GRCh37: 15:83346938-83346938
GRCh38: 15:82678186-82678186
13 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.1636G>C (p.Ala546Pro) SNV Uncertain significance 1034105 GRCh37: 15:83345242-83345242
GRCh38: 15:82676490-82676490
14 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.2633G>A (p.Arg878Gln) SNV Uncertain significance 1034106 GRCh37: 15:83331646-83331646
GRCh38: 15:82662894-82662894
15 CPEB1-AS1 , AP3B2 NM_001278512.2(AP3B2):c.2679C>G (p.Asp893Glu) SNV Uncertain significance 1034107 GRCh37: 15:83331600-83331600
GRCh38: 15:82662848-82662848

Expression for Developmental and Epileptic Encephalopathy 48

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 48.

Pathways for Developmental and Epileptic Encephalopathy 48

GO Terms for Developmental and Epileptic Encephalopathy 48

Sources for Developmental and Epileptic Encephalopathy 48

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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