DEE49
MCID: DVL074
MIFTS: 24

Developmental and Epileptic Encephalopathy 49 (DEE49)

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 49

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 49:

Name: Developmental and Epileptic Encephalopathy 49 57 12
Epileptic Encephalopathy, Early Infantile, 49 57 73 29 6
Eiee49 57 73
Dee49 57 12
Epileptic Encephalopathy, Early Infantile, 49; Eiee49 57
Early Infantile Epileptic Encephalopathy 49 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset of seizures in the neonatal period
four unrelated families have been reported (last curated december 2016)


HPO:

31
developmental and epileptic encephalopathy 49:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 49

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 49: 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. EIEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features.

MalaCards based summary : Developmental and Epileptic Encephalopathy 49, is also known as epileptic encephalopathy, early infantile, 49. An important gene associated with Developmental and Epileptic Encephalopathy 49 is DENND5A (DENN Domain Containing 5A). Related phenotypes are cerebral calcification and hydrocephalus

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has material basis in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15.

OMIM® : 57 Developmental and epileptic encephalopathy-49 (DEE49) is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (617281) (Updated 05-Mar-2021)

Related Diseases for Developmental and Epileptic Encephalopathy 49

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 57 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 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 49

Human phenotypes related to Developmental and Epileptic Encephalopathy 49:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 cerebral calcification 31 very rare (1%) HP:0002514
2 hydrocephalus 31 very rare (1%) HP:0000238
3 optic atrophy 31 very rare (1%) HP:0000648
4 dandy-walker malformation 31 very rare (1%) HP:0001305
5 spasticity 31 HP:0001257
6 hyperreflexia 31 HP:0001347
7 frontal bossing 31 HP:0002007
8 eeg abnormality 31 HP:0002353
9 coarse facial features 31 HP:0000280
10 macrotia 31 HP:0000400
11 microcephaly 31 HP:0000252
12 myoclonus 31 HP:0001336
13 absent speech 31 HP:0001344
14 open mouth 31 HP:0000194
15 short philtrum 31 HP:0000322
16 profound global developmental delay 31 HP:0012736
17 long eyelashes 31 HP:0000527
18 prominent nose 31 HP:0000448
19 thick upper lip vermilion 31 HP:0000215
20 muscular hypotonia of the trunk 31 HP:0008936
21 epileptic encephalopathy 31 HP:0200134
22 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
myoclonus
absent speech
epileptic encephalopathy
more
Head And Neck Head:
microcephaly

Head And Neck Eyes:
long eyelashes
optic atrophy (1 patient)
thick curved eyebrows

Head And Neck Ears:
large ears

Head And Neck Face:
frontal bossing
short philtrum
coarse facies

Head And Neck Mouth:
open mouth
full upper lip
thick everted lower lip

Head And Neck Nose:
prominent nose
large nostrils

Muscle Soft Tissue:
axial hypotonia, severe

Clinical features from OMIM®:

617281 (Updated 05-Mar-2021)

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 49

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 49

Genetic Tests for Developmental and Epileptic Encephalopathy 49

Genetic tests related to Developmental and Epileptic Encephalopathy 49:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 49 29 DENND5A

Anatomical Context for Developmental and Epileptic Encephalopathy 49

Publications for Developmental and Epileptic Encephalopathy 49

Articles related to Developmental and Epileptic Encephalopathy 49:

# Title Authors PMID Year
1
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 57 6
27431290 2017
2
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. 6 57
27866705 2016

Variations for Developmental and Epileptic Encephalopathy 49

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 49:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DENND5A NM_015213.4(DENND5A):c.515_516GA[1] (p.Asp173fs) Microsatellite Pathogenic 374925 rs1057519307 11:9225638-9225639 11:9204091-9204092
2 DENND5A NM_015213.4(DENND5A):c.3811del (p.Gln1271fs) Deletion Pathogenic 374928 rs1057519310 11:9161271-9161271 11:9139724-9139724
3 DENND5A NM_015213.4(DENND5A):c.2547del (p.Lys850fs) Deletion Pathogenic 374926 rs1057519308 11:9172286-9172286 11:9150739-9150739
4 DENND5A NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter) SNV Likely pathogenic 375552 rs1057519563 11:9182382-9182382 11:9160835-9160835
5 DENND5A NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln) SNV Likely pathogenic 375553 rs1057519564 11:9163538-9163538 11:9141991-9141991
6 DENND5A NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly) SNV Uncertain significance 374927 rs1057519309 11:9200454-9200454 11:9178907-9178907

Expression for Developmental and Epileptic Encephalopathy 49

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 49.

Pathways for Developmental and Epileptic Encephalopathy 49

GO Terms for Developmental and Epileptic Encephalopathy 49

Sources for Developmental and Epileptic Encephalopathy 49

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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