EIEE49
MCID: EPL190
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 49 (EIEE49)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 57 74 29 6
Eiee49 57 74
Early Infantile Epileptic Encephalopathy 49 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
epileptic encephalopathy, early infantile, 49:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080441
MeSH 44 D013036

Summaries for Epileptic Encephalopathy, Early Infantile, 49

UniProtKB/Swiss-Prot : 74 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 cerebral calcification

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 : 57 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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 49

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

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 very rare (1%) HP:0000238
2 cerebral calcification 32 very rare (1%) HP:0002514
3 optic atrophy 32 very rare (1%) HP:0000648
4 dandy-walker malformation 32 very rare (1%) HP:0001305
5 frontal bossing 32 HP:0002007
6 seizures 32 HP:0001250
7 spasticity 32 HP:0001257
8 hyperreflexia 32 HP:0001347
9 eeg abnormality 32 HP:0002353
10 coarse facial features 32 HP:0000280
11 macrotia 32 HP:0000400
12 microcephaly 32 HP:0000252
13 open mouth 32 HP:0000194
14 short philtrum 32 HP:0000322
15 myoclonus 32 HP:0001336
16 absent speech 32 HP:0001344
17 epileptic encephalopathy 32 HP:0200134
18 thick upper lip vermilion 32 HP:0000215
19 long eyelashes 32 HP:0000527
20 profound global developmental delay 32 HP:0012736
21 prominent nose 32 HP:0000448
22 muscular hypotonia of the trunk 32 HP:0008936

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
short philtrum
coarse facies

Head And Neck Head:
microcephaly

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

Head And Neck Ears:
large ears

Neurologic Central Nervous System:
seizures
hyperreflexia
myoclonus
absent speech
epileptic encephalopathy
more
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:

41
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. 8 71
27431290 2017
2
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A. 8 71
27866705 2016
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 49

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 49:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DENND5A NM_015213.4(DENND5A): c.515_516GA[1] (p.Asp173fs) short repeat Pathogenic rs1057519307 11:9225638-9225639 11:9204091-9204092
2 DENND5A NM_015213.4(DENND5A): c.2547del (p.Lys850fs) deletion Pathogenic rs1057519308 11:9172286-9172286 11:9150739-9150739
3 DENND5A NM_015213.4(DENND5A): c.3811del (p.Gln1271fs) deletion Pathogenic rs1057519310 11:9161271-9161271 11:9139724-9139724
4 DENND5A NM_015213.4(DENND5A): c.2314C> T (p.Arg772Ter) single nucleotide variant Likely pathogenic rs1057519563 11:9182382-9182382 11:9160835-9160835
5 DENND5A NM_015213.4(DENND5A): c.3629G> A (p.Arg1210Gln) single nucleotide variant Likely pathogenic rs1057519564 11:9163538-9163538 11:9141991-9141991
6 DENND5A NM_015213.4(DENND5A): c.1622A> G (p.Asp541Gly) single nucleotide variant Uncertain significance 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
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10 dbSNP
11 DGIdb
17 EFO
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28 GO
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30 HGMD
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32 HPO
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34 ICD10 via Orphanet
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36 IUPHAR
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49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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