EIEE49
MCID: EPL190
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 49 (EIEE49)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 75 29 6
Eiee49 57 75

Characteristics:

OMIM:

57
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 : 75 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 frontal bossing and hydrocephalus

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 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, 25
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
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 49

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

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

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 32 HP:0002007
2 hydrocephalus 32 very rare (1%) HP:0000238
3 seizures 32 HP:0001250
4 spasticity 32 HP:0001257
5 hyperreflexia 32 HP:0001347
6 eeg abnormality 32 HP:0002353
7 cerebral calcification 32 very rare (1%) HP:0002514
8 coarse facial features 32 HP:0000280
9 global developmental delay 32 HP:0001263
10 optic atrophy 32 very rare (1%) HP:0000648
11 myoclonus 32 HP:0001336
12 absent speech 32 HP:0001344
13 short philtrum 32 HP:0000322
14 open mouth 32 HP:0000194
15 thick upper lip vermilion 32 HP:0000215
16 long eyelashes 32 HP:0000527
17 dandy-walker malformation 32 very rare (1%) HP:0001305
18 prominent nose 32 HP:0000448
19 epileptic encephalopathy 32 HP:0200134

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, Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 49

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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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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