EIEE44
MCID: EPL181
MIFTS: 26

Epileptic Encephalopathy, Early Infantile, 44 (EIEE44)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 44

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 44:

Name: Epileptic Encephalopathy, Early Infantile, 44 58 76 30 6
Eiee44 58 76
Encephalopathy, Epileptic, Early Infantile, Type 44 41
Early Infantile Epileptic Encephalopathy 44 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or in early infancy


HPO:

33
epileptic encephalopathy, early infantile, 44:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 44

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 44: 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. EIEE44 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 44, also known as eiee44, is related to spinocerebellar ataxia, autosomal recessive 24. An important gene associated with Epileptic Encephalopathy, Early Infantile, 44 is UBA5 (Ubiquitin Like Modifier Activating Enzyme 5). Affiliated tissues include eye, and related phenotypes are seizures and spasticity

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.

Description from OMIM: 617132

Related Diseases for Epileptic Encephalopathy, Early Infantile, 44

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 44 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 24 9.5 NPHP3-ACAD11 UBA5

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 44

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 44:

33 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 spasticity 33 HP:0001257
3 failure to thrive 33 HP:0001508
4 short stature 33 HP:0004322
5 gastroesophageal reflux 33 HP:0002020
6 intellectual disability, severe 33 HP:0010864
7 irritability 33 HP:0000737
8 feeding difficulties 33 HP:0011968
9 absent speech 33 HP:0001344
10 dystonia 33 HP:0001332
11 mask-like facies 33 HP:0000298
12 cerebellar atrophy 33 HP:0001272
13 generalized hypotonia 33 HP:0001290
14 encephalopathy 33 HP:0001298
15 hypoplasia of the corpus callosum 33 HP:0002079
16 cerebral atrophy 33 HP:0002059
17 athetosis 33 HP:0002305
18 postnatal microcephaly 33 HP:0005484
19 poor eye contact 33 HP:0000817
20 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
intellectual disability, severe
dystonia
cerebellar atrophy
encephalopathy
more
Growth Height:
short stature

Neurologic Behavioral Psychiatric Manifestations:
irritability

Muscle Soft Tissue:
hypotonia

Head And Neck Face:
expressionless face

Growth Other:
failure to thrive

Abdomen Gastrointestinal:
gastroesophageal reflux
poor feeding

Head And Neck Eyes:
poor eye contact
poor visual pursuit

Head And Neck Head:
microcephaly, postnatal

Clinical features from OMIM:

617132

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 44

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 44

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 44

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 44:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 44 30 UBA5

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 44

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 44:

42
Eye

Publications for Epileptic Encephalopathy, Early Infantile, 44

Variations for Epileptic Encephalopathy, Early Infantile, 44

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 44:

76
# Symbol AA change Variation ID SNP ID
1 UBA5 p.Arg55His VAR_077153 rs774318611
2 UBA5 p.Met57Val VAR_077154 rs532178791
3 UBA5 p.Gly168Glu VAR_077155 rs886039761
4 UBA5 p.Val260Met VAR_077156 rs886039759
5 UBA5 p.Ala371Thr VAR_077158 rs114925667
6 UBA5 p.Asp389Tyr VAR_077159 rs886039760

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 44:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 UBA5 NM_024818.4(UBA5): c.1111G> A (p.Ala371Thr) single nucleotide variant Pathogenic rs114925667 GRCh38 Chromosome 3, 132675903: 132675903
2 UBA5 NM_024818.4(UBA5): c.1111G> A (p.Ala371Thr) single nucleotide variant Pathogenic rs114925667 GRCh37 Chromosome 3, 132394747: 132394747
3 UBA5 NM_024818.4(UBA5): c.164G> A (p.Arg55His) single nucleotide variant Pathogenic rs774318611 GRCh38 Chromosome 3, 132665825: 132665825
4 UBA5 NM_024818.4(UBA5): c.164G> A (p.Arg55His) single nucleotide variant Pathogenic rs774318611 GRCh37 Chromosome 3, 132384669: 132384669
5 UBA5 NM_024818.4(UBA5): c.855C> A (p.Tyr285Ter) single nucleotide variant Pathogenic rs745968949 GRCh37 Chromosome 3, 132394134: 132394134
6 UBA5 NM_024818.4(UBA5): c.855C> A (p.Tyr285Ter) single nucleotide variant Pathogenic rs745968949 GRCh38 Chromosome 3, 132675290: 132675290
7 UBA5 NM_024818.4(UBA5): c.181C> T (p.Arg61Ter) single nucleotide variant Pathogenic rs886039756 GRCh37 Chromosome 3, 132384686: 132384686
8 UBA5 NM_024818.4(UBA5): c.181C> T (p.Arg61Ter) single nucleotide variant Pathogenic rs886039756 GRCh38 Chromosome 3, 132665842: 132665842
9 UBA5 NM_024818.4(UBA5): c.562C> T (p.Arg188Ter) single nucleotide variant Likely pathogenic rs374052333 GRCh37 Chromosome 3, 132389876: 132389876
10 UBA5 NM_024818.4(UBA5): c.562C> T (p.Arg188Ter) single nucleotide variant Likely pathogenic rs374052333 GRCh38 Chromosome 3, 132671032: 132671032
11 UBA5 NM_024818.4(UBA5): c.904C> T (p.Gln302Ter) single nucleotide variant Pathogenic rs886039757 GRCh37 Chromosome 3, 132394183: 132394183
12 UBA5 NM_024818.4(UBA5): c.904C> T (p.Gln302Ter) single nucleotide variant Pathogenic rs886039757 GRCh38 Chromosome 3, 132675339: 132675339
13 UBA5 NM_024818.4(UBA5): c.971_972insC (p.Lys324Asnfs) insertion Pathogenic rs886039758 GRCh37 Chromosome 3, 132394471: 132394472
14 UBA5 NM_024818.4(UBA5): c.971_972insC (p.Lys324Asnfs) insertion Pathogenic rs886039758 GRCh38 Chromosome 3, 132675627: 132675628
15 UBA5 NM_024818.4(UBA5): c.778G> A (p.Val260Met) single nucleotide variant Pathogenic rs886039759 GRCh38 Chromosome 3, 132672143: 132672143
16 UBA5 NM_024818.4(UBA5): c.778G> A (p.Val260Met) single nucleotide variant Pathogenic rs886039759 GRCh37 Chromosome 3, 132390987: 132390987
17 UBA5 NM_024818.4(UBA5): c.1165G> T (p.Asp389Tyr) single nucleotide variant Pathogenic rs886039760 GRCh37 Chromosome 3, 132395320: 132395320
18 UBA5 NM_024818.4(UBA5): c.1165G> T (p.Asp389Tyr) single nucleotide variant Pathogenic rs886039760 GRCh38 Chromosome 3, 132676476: 132676476
19 UBA5 NM_024818.4(UBA5): c.503G> A (p.Gly168Glu) single nucleotide variant Pathogenic rs886039761 GRCh37 Chromosome 3, 132389817: 132389817
20 UBA5 NM_024818.4(UBA5): c.503G> A (p.Gly168Glu) single nucleotide variant Pathogenic rs886039761 GRCh38 Chromosome 3, 132670973: 132670973
21 UBA5 NM_024818.4(UBA5): c.169A> G (p.Met57Val) single nucleotide variant Pathogenic rs532178791 GRCh38 Chromosome 3, 132665830: 132665830
22 UBA5 NM_024818.4(UBA5): c.169A> G (p.Met57Val) single nucleotide variant Pathogenic rs532178791 GRCh37 Chromosome 3, 132384674: 132384674
23 UBA5 NM_024818.4(UBA5): c.910G> A (p.Asp304Asn) single nucleotide variant Likely pathogenic rs772888455 GRCh37 Chromosome 3, 132394189: 132394189
24 UBA5 NM_024818.4(UBA5): c.910G> A (p.Asp304Asn) single nucleotide variant Likely pathogenic rs772888455 GRCh38 Chromosome 3, 132675345: 132675345
25 UBA5 NM_024818.4(UBA5): c.907T> C (p.Cys303Arg) single nucleotide variant Uncertain significance rs1553770577 GRCh37 Chromosome 3, 132394186: 132394186
26 UBA5 NM_024818.4(UBA5): c.907T> C (p.Cys303Arg) single nucleotide variant Uncertain significance rs1553770577 GRCh38 Chromosome 3, 132675342: 132675342

Expression for Epileptic Encephalopathy, Early Infantile, 44

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 44.

Pathways for Epileptic Encephalopathy, Early Infantile, 44

GO Terms for Epileptic Encephalopathy, Early Infantile, 44

Sources for Epileptic Encephalopathy, Early Infantile, 44

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