EIEE49
MCID: EPL190
MIFTS: 26

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 58 76 30 6
Eiee49 58 76
Early Infantile Epileptic Encephalopathy 49 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 49

UniProtKB/Swiss-Prot : 76 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, liver and eye, 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 : 58 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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 49

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

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 very rare (1%) HP:0000238
2 cerebral calcification 33 very rare (1%) HP:0002514
3 optic atrophy 33 very rare (1%) HP:0000648
4 dandy-walker malformation 33 very rare (1%) HP:0001305
5 frontal bossing 33 HP:0002007
6 seizures 33 HP:0001250
7 spasticity 33 HP:0001257
8 hyperreflexia 33 HP:0001347
9 eeg abnormality 33 HP:0002353
10 coarse facial features 33 HP:0000280
11 myoclonus 33 HP:0001336
12 absent speech 33 HP:0001344
13 short philtrum 33 HP:0000322
14 epileptic encephalopathy 33 HP:0200134
15 open mouth 33 HP:0000194
16 thick upper lip vermilion 33 HP:0000215
17 long eyelashes 33 HP:0000527
18 prominent nose 33 HP:0000448
19 profound global developmental delay 33 HP:0012736

Symptoms via clinical synopsis from OMIM:

58
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 30 DENND5A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 49

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

42
Brain, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 49

Articles related to Epileptic Encephalopathy, Early Infantile, 49:

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

Variations for Epileptic Encephalopathy, Early Infantile, 49

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DENND5A NM_015213.3(DENND5A): c.517_518delGA (p.Asp173Profs) deletion Pathogenic rs1057519307 GRCh38 Chromosome 11, 9204091: 9204092
2 DENND5A NM_015213.3(DENND5A): c.517_518delGA (p.Asp173Profs) deletion Pathogenic rs1057519307 GRCh37 Chromosome 11, 9225638: 9225639
3 DENND5A NM_015213.3(DENND5A): c.2547delG (p.Lys850Serfs) deletion Pathogenic rs1057519308 GRCh37 Chromosome 11, 9172286: 9172286
4 DENND5A NM_015213.3(DENND5A): c.2547delG (p.Lys850Serfs) deletion Pathogenic rs1057519308 GRCh38 Chromosome 11, 9150739: 9150739
5 DENND5A NM_015213.3(DENND5A): c.1622A> G (p.Asp541Gly) single nucleotide variant Uncertain significance rs1057519309 GRCh38 Chromosome 11, 9178907: 9178907
6 DENND5A NM_015213.3(DENND5A): c.1622A> G (p.Asp541Gly) single nucleotide variant Uncertain significance rs1057519309 GRCh37 Chromosome 11, 9200454: 9200454
7 DENND5A NM_015213.3(DENND5A): c.3811delC (p.Gln1271Argfs) deletion Pathogenic rs1057519310 GRCh37 Chromosome 11, 9161271: 9161271
8 DENND5A NM_015213.3(DENND5A): c.3811delC (p.Gln1271Argfs) deletion Pathogenic rs1057519310 GRCh38 Chromosome 11, 9139724: 9139724
9 DENND5A NM_015213.3(DENND5A): c.2314C> T (p.Arg772Ter) single nucleotide variant Likely pathogenic rs1057519563 GRCh37 Chromosome 11, 9182382: 9182382
10 DENND5A NM_015213.3(DENND5A): c.2314C> T (p.Arg772Ter) single nucleotide variant Likely pathogenic rs1057519563 GRCh38 Chromosome 11, 9160835: 9160835
11 DENND5A NM_015213.3(DENND5A): c.3629G> A (p.Arg1210Gln) single nucleotide variant Likely pathogenic rs1057519564 GRCh37 Chromosome 11, 9163538: 9163538
12 DENND5A NM_015213.3(DENND5A): c.3629G> A (p.Arg1210Gln) single nucleotide variant Likely pathogenic rs1057519564 GRCh38 Chromosome 11, 9141991: 9141991

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

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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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