EIEE49
MCID: EPL190
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 49 (EIEE49)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 49

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 49:

Name: Epileptic Encephalopathy, Early Infantile, 49 56 73 29 6
Eiee49 56 73
Early Infantile Epileptic Encephalopathy 49 12

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
epileptic encephalopathy, early infantile, 49:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 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 : Epileptic Encephalopathy, Early Infantile, 49, is also known as eiee49. An important gene associated with Epileptic Encephalopathy, Early Infantile, 49 is DENND5A (DENN Domain Containing 5A). Affiliated tissues include brain, and related phenotypes are hydrocephalus and optic atrophy

Disease Ontology : 12 An early infantile 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 : 56 Early infantile epileptic encephalopathy-49 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 EIEE, see EIEE1 (308350). (617281)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 49

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 49

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 49:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 very rare (1%) HP:0000238
2 optic atrophy 31 very rare (1%) HP:0000648
3 dandy-walker malformation 31 very rare (1%) HP:0001305
4 cerebral calcification 31 very rare (1%) HP:0002514
5 coarse facial features 31 HP:0000280
6 macrotia 31 HP:0000400
7 microcephaly 31 HP:0000252
8 eeg abnormality 31 HP:0002353
9 spasticity 31 HP:0001257
10 myoclonus 31 HP:0001336
11 frontal bossing 31 HP:0002007
12 absent speech 31 HP:0001344
13 hyperreflexia 31 HP:0001347
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:

56
Neurologic Central Nervous System:
seizures
myoclonus
absent speech
hyperreflexia
epileptic encephalopathy
more
Head And Neck Face:
frontal bossing
short philtrum
coarse facies

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

Head And Neck Ears:
large ears

Head And Neck Head:
microcephaly

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

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 49

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 49

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 49

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 49:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 49

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 49:

40
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 49

Articles related to Epileptic Encephalopathy, Early Infantile, 49:

# Title Authors PMID Year
1
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. 6 56
27431290 2017
2
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. 6 56
27866705 2016
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 49

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 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)short repeat Pathogenic 374925 rs1057519307 11:9225638-9225639 11:9204091-9204092
2 DENND5A NM_015213.4(DENND5A):c.2547del (p.Lys850fs)deletion Pathogenic 374926 rs1057519308 11:9172286-9172286 11:9150739-9150739
3 DENND5A NM_015213.4(DENND5A):c.3811del (p.Gln1271fs)deletion Pathogenic 374928 rs1057519310 11:9161271-9161271 11:9139724-9139724
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 Epileptic Encephalopathy, Early Infantile, 49

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 49.

Pathways for Epileptic Encephalopathy, Early Infantile, 49

GO Terms for Epileptic Encephalopathy, Early Infantile, 49

Sources for Epileptic Encephalopathy, Early Infantile, 49

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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