EIEE50
MCID: EPL183
MIFTS: 27

Epileptic Encephalopathy, Early Infantile, 50 (EIEE50)

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, 50

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

Name: Epileptic Encephalopathy, Early Infantile, 50 57 75 29 6
Eiee50 57 75
Cdg1z 59 75
Congenital Disorder of Glycosylation, Type Iz, Formerly; Cdg1z, Formerly 57
Congenital Disorder of Glycosylation, Type Iz, Formerly 57
Carbohydrate Deficient Glycoprotein Syndrome Type Iz 59
Congenital Disorder of Glycosylation Type 1z 59
Congenital Disorder of Glycosylation 1z 75
Cdg Syndrome Type Iz 59
Cdg1z, Formerly 57
Cad-Cdg 59
Cdg-Iz 59

Characteristics:

Orphanet epidemiological data:

59
cad-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
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:

32
epileptic encephalopathy, early infantile, 50:
Onset and clinical course infantile onset progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


Summaries for Epileptic Encephalopathy, Early Infantile, 50

OMIM : 57 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 eiee50, is related to cad-cdg. 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 liver, and related phenotypes are brain atrophy and developmental regression

UniProtKB/Swiss-Prot : 75 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 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

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 12.4

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 50

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 32 HP:0012444
2 developmental regression 32 HP:0002376
3 global developmental delay 32 HP:0001263
4 anemia 32 HP:0001903
5 status epilepticus 32 HP:0002133
6 hyperammonemia 32 HP:0001987
7 generalized hypotonia 32 HP:0001290
8 epileptic encephalopathy 32 HP:0200134
9 acanthocytosis 32 HP:0001927
10 renal tubular acidosis 32 HP:0001947
11 poor speech 32 HP:0002465
12 broad-based gait 32 HP:0002136
13 abnormal glycosylation 32 HP:0012345
14 anisopoikilocytosis 32 HP:0004823
15 schistocytosis 32 HP:0001981

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 29 CAD

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 50

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

41
Brain, Bone, Liver, Eye, 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:

75
# 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

Sources for Epileptic Encephalopathy, Early Infantile, 50

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....