MCID: EPL190
MIFTS: 19

Epileptic Encephalopathy, Early Infantile, 49

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal 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 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:



External Ids:

OMIM 57 617281
MeSH 44 D013036

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.

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
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

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

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

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 Pathogenic rs1057519309 GRCh38 Chromosome 11, 9178907: 9178907
6 DENND5A NM_015213.3(DENND5A): c.1622A> G (p.Asp541Gly) single nucleotide variant Pathogenic 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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
Content
Loading form....