EIEE50
MCID: EPL183
MIFTS: 34

Epileptic Encephalopathy, Early Infantile, 50 (EIEE50)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 50

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 50:

Name: Epileptic Encephalopathy, Early Infantile, 50 58 76 30 6
Carbohydrate Deficient Glycoprotein Syndrome Type Iz 12 60
Congenital Disorder of Glycosylation Type 1z 12 60
Early Infantile Epileptic Encephalopathy 50 12 15
Cdg Syndrome Type Iz 12 60
Eiee50 58 76
Cdg-Iz 12 60
Cdg1z 60 76
Congenital Disorder of Glycosylation, Type Iz, Formerly; Cdg1z, Formerly 58
Congenital Disorder of Glycosylation, Type Iz, Formerly 58
Congenital Disorder of Glycosylation 1z 76
Cdg1z, Formerly 58
Cad-Cdg 60

Characteristics:

Orphanet epidemiological data:

60
cad-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
death in early childhood may occur
onset in infancy (up to 2 years)
favorable response to treatment with oral uridine


HPO:

33
epileptic encephalopathy, early infantile, 50:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Epileptic Encephalopathy, Early Infantile, 50

OMIM : 58 Early infantile epileptic encephalopathy-50 is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia. Onset is within the first years of life. Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by Koch et al., 2017). For a discussion of genetic heterogeneity of early infantile epileptic encephalopathy, see 308350. (616457)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 50, also known as carbohydrate deficient glycoprotein syndrome type iz, is related to cad-cdg and hereditary spherocytosis. An important gene associated with Epileptic Encephalopathy, Early Infantile, 50 is CAD (Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase). Affiliated tissues include brain, bone and bone marrow, and related phenotypes are brain atrophy and developmental regression

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has material basis in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23.

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 50: 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. EIEE50 is an autosomal recessive, progressive disease with onset in infancy and favorable response to treatment with oral uridine.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 50

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, 50 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cad-cdg 11.5
2 hereditary spherocytosis 9.7 PKLR SEC23B
3 hemolytic anemia 9.4 PIEZO1 PKLR
4 congenital hemolytic anemia 9.3 PIEZO1 PKLR SEC23B

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 50

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 50:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 33 HP:0012444
2 developmental regression 33 HP:0002376
3 global developmental delay 33 HP:0001263
4 anemia 33 HP:0001903
5 status epilepticus 33 HP:0002133
6 hyperammonemia 33 HP:0001987
7 generalized hypotonia 33 HP:0001290
8 epileptic encephalopathy 33 HP:0200134
9 acanthocytosis 33 HP:0001927
10 renal tubular acidosis 33 HP:0001947
11 poor speech 33 HP:0002465
12 broad-based gait 33 HP:0002136
13 abnormal glycosylation 33 HP:0012345
14 anisopoikilocytosis 33 HP:0004823
15 schistocytosis 33 HP:0001981

Symptoms via clinical synopsis from OMIM:

58
Hematology:
anemia
acanthocytosis
anisopoikilocytosis
schistocytosis
dyserythropoietic bone marrow biopsy

Laboratory Abnormalities:
serum transferrin glycosylation is normal
hyperammonemia, mild (patient a)
red blood cell proteins show abnormal glycosylation (patient a)

Genitourinary Kidneys:
renal tubular acidosis (patient a)

Neurologic Central Nervous System:
status epilepticus
epileptic encephalopathy
poor speech
hypotonia
seizures, refractory
more
Abdomen Gastrointestinal:
pan-disaccharidase deficiency (patient a)

Clinical features from OMIM:

616457

GenomeRNAi Phenotypes related to Epileptic Encephalopathy, Early Infantile, 50 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.5 SEC23B
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.5 SEC23B
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.5 SEC23B
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.5 CAD
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.5 CAD SEC23B
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.5 CAD
7 Increased circadian period length GR00213-A 8.62 CAD PKLR

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 50

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 50

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 50

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 50:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 50 30 CAD

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 50

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 50:

42
Brain, Bone, Bone Marrow

Publications for Epileptic Encephalopathy, Early Infantile, 50

Variations for Epileptic Encephalopathy, Early Infantile, 50

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 50:

76
# Symbol AA change Variation ID SNP ID
1 CAD p.Arg2024Gln VAR_073955 rs763410987

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 50:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAD NM_004341.4(CAD): c.1843-1G> A single nucleotide variant Pathogenic rs769567624 GRCh38 Chromosome 2, 27226130: 27226130
2 CAD NM_004341.4(CAD): c.1843-1G> A single nucleotide variant Pathogenic rs769567624 GRCh37 Chromosome 2, 27448998: 27448998
3 CAD NP_001293008.1: p.Arg2024Gln undetermined variant Pathogenic
4 CAD NM_004341.4(CAD): c.98T> G (p.Met33Arg) single nucleotide variant Pathogenic/Likely pathogenic rs751610198 GRCh37 Chromosome 2, 27440760: 27440760
5 CAD NM_004341.4(CAD): c.98T> G (p.Met33Arg) single nucleotide variant Pathogenic/Likely pathogenic rs751610198 GRCh38 Chromosome 2, 27217892: 27217892
6 CAD NM_004341.4(CAD): c.1843-3C> T single nucleotide variant Likely pathogenic rs1057519262 GRCh38 Chromosome 2, 27226128: 27226128
7 CAD NM_004341.4(CAD): c.1843-3C> T single nucleotide variant Likely pathogenic rs1057519262 GRCh37 Chromosome 2, 27448996: 27448996
8 CAD NM_004341.4(CAD): c.5365C> T (p.Arg1789Ter) single nucleotide variant Pathogenic rs62130681 GRCh37 Chromosome 2, 27462310: 27462310
9 CAD NM_004341.4(CAD): c.5365C> T (p.Arg1789Ter) single nucleotide variant Pathogenic rs62130681 GRCh38 Chromosome 2, 27239442: 27239442

Expression for Epileptic Encephalopathy, Early Infantile, 50

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 50.

Pathways for Epileptic Encephalopathy, Early Infantile, 50

GO Terms for Epileptic Encephalopathy, Early Infantile, 50

Biological processes related to Epileptic Encephalopathy, Early Infantile, 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 8.62 CAD PKLR

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 8.62 CAD PKLR

Sources for Epileptic Encephalopathy, Early Infantile, 50

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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