DEE50
MCID: DVL060
MIFTS: 36

Developmental and Epileptic Encephalopathy 50 (DEE50)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 50

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 50:

Name: Developmental and Epileptic Encephalopathy 50 57 12
Epileptic Encephalopathy, Early Infantile, 50 57 73 29 6
Carbohydrate Deficient Glycoprotein Syndrome Type Iz 12 58
Congenital Disorder of Glycosylation Type 1z 12 58
Early Infantile Epileptic Encephalopathy 50 12 15
Cdg Syndrome Type Iz 12 58
Eiee50 57 73
Cdg-Iz 12 58
Dee50 57 12
Cdg1z 58 73
Congenital Disorder of Glycosylation, Type Iz, Formerly; Cdg1z, Formerly 57
Congenital Disorder of Glycosylation, Type Iz, Formerly 57
Epileptic Encephalopathy, Early Infantile, 50; Eiee50 57
Encephalopathy, Epileptic, Early Infantile,, Type 50 39
Congenital Disorder of Glycosylation 1z 73
Cdg1z, Formerly 57
Cad-Cdg 58

Characteristics:

Orphanet epidemiological data:

58
cad-cdg
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
developmental and epileptic encephalopathy 50:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset progressive


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0080419
OMIM® 57 616457
OMIM Phenotypic Series 57 PS308350
ICD10 via Orphanet 33 E77.8
Orphanet 58 ORPHA448010

Summaries for Developmental and Epileptic Encephalopathy 50

OMIM® : 57 Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or 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 DEE, see 308350. (616457) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 50, also known as epileptic encephalopathy, early infantile, 50, is related to cad-cdg and hemolytic anemia. An important gene associated with Developmental and Epileptic Encephalopathy 50 is CAD (Carbamoyl-Phosphate Synthetase 2, Aspartate Transcarbamylase, And Dihydroorotase), and among its related pathways/superpathways is Biosynthesis of cofactors. Affiliated tissues include brain, bone marrow and bone, and related phenotypes are developmental regression and global developmental delay

Disease Ontology : 12 A developmental and 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 : 73 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 Developmental and Epileptic Encephalopathy 50

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 50 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cad-cdg 11.5
2 hemolytic anemia 9.7 PKLR PIEZO1
3 congenital nonspherocytic hemolytic anemia 9.7 PKLR PIEZO1
4 congenital dyserythropoietic anemia 9.7 SEC23B PKLR
5 glutamate-cysteine ligase deficiency 9.7 PKLR PIEZO1
6 pyruvate kinase deficiency of red cells 9.6 PKLR PIEZO1
7 hemochromatosis, type 1 9.5 PKLR PIEZO1
8 congenital hemolytic anemia 9.4 SEC23B PKLR PIEZO1
9 hereditary spherocytosis 9.4 SEC23B PKLR PIEZO1

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 50:



Diseases related to Developmental and Epileptic Encephalopathy 50

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 50

Human phenotypes related to Developmental and Epileptic Encephalopathy 50:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 developmental regression 31 HP:0002376
2 global developmental delay 31 HP:0001263
3 anemia 31 HP:0001903
4 hyperammonemia 31 HP:0001987
5 acanthocytosis 31 HP:0001927
6 broad-based gait 31 HP:0002136
7 status epilepticus 31 HP:0002133
8 generalized hypotonia 31 HP:0001290
9 renal tubular acidosis 31 HP:0001947
10 brain atrophy 31 HP:0012444
11 poor speech 31 HP:0002465
12 anisopoikilocytosis 31 HP:0004823
13 epileptic encephalopathy 31 HP:0200134
14 abnormal glycosylation 31 HP:0012345
15 schistocytosis 31 HP:0001981

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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
poor speech
epileptic encephalopathy
hypotonia
seizures, refractory
more
Abdomen Gastrointestinal:
pan-disaccharidase deficiency (patient a)

Clinical features from OMIM®:

616457 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Developmental and Epileptic Encephalopathy 50 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.28 CAD
2 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.28 SEC23B
3 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.28 SEC23B
4 Increased shRNA abundance (Z-score > 2) GR00366-A-5 9.28 CAD
5 Increased shRNA abundance (Z-score > 2) GR00366-A-51 9.28 CAD
6 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.28 CAD SEC23B
7 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.28 CAD
8 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.28 CAD

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 50:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.26 CAD PIEZO1 PKLR SEC23B
2 immune system MP:0005387 8.92 CAD PIEZO1 PKLR SEC23B

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 50

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 50

Genetic Tests for Developmental and Epileptic Encephalopathy 50

Genetic tests related to Developmental and Epileptic Encephalopathy 50:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 50 29 CAD

Anatomical Context for Developmental and Epileptic Encephalopathy 50

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 50:

40
Brain, Bone Marrow, Bone

Publications for Developmental and Epileptic Encephalopathy 50

Articles related to Developmental and Epileptic Encephalopathy 50:

# Title Authors PMID Year
1
CAD mutations and uridine-responsive epileptic encephalopathy. 57 6
28007989 2017
2
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. 6 57
25678555 2015
3
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation. 61
32820246 2020
4
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. 61
29396846 2018

Variations for Developmental and Epileptic Encephalopathy 50

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 50:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAD NM_004341.5(CAD):c.1843-1G>A SNV Pathogenic 203465 rs769567624 2:27448998-27448998 2:27226130-27226130
2 CAD NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) SNV Pathogenic 203466 rs763410987 2:27464966-27464966 2:27242098-27242098
3 CAD NM_004341.5(CAD):c.571C>T (p.Arg191Ter) SNV Pathogenic 801658 rs1572423883 2:27445462-27445462 2:27222594-27222594
4 CAD NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs) Deletion Pathogenic 930757 2:27463181-27463182 2:27240313-27240314
5 CAD NM_004341.5(CAD):c.5365C>T (p.Arg1789Ter) SNV Pathogenic 374831 rs62130681 2:27462310-27462310 2:27239442-27239442
6 CAD NM_004341.5(CAD):c.98T>G (p.Met33Arg) SNV Pathogenic 374829 rs751610198 2:27440760-27440760 2:27217892-27217892
7 CAD NM_004341.5(CAD):c.1843-3C>T SNV Likely pathogenic 374830 rs1057519262 2:27448996-27448996 2:27226128-27226128
8 CAD NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) SNV Likely pathogenic 422220 rs139332887 2:27462599-27462599 2:27239731-27239731
9 CAD NM_004341.5(CAD):c.3512C>A (p.Pro1171Gln) SNV Uncertain significance 989328 2:27456988-27456988 2:27234120-27234120
10 CAD NM_004341.5(CAD):c.4315-1G>A SNV Uncertain significance 989329 2:27459616-27459616 2:27236748-27236748
11 CAD NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) SNV Likely benign 788724 rs144692793 2:27461368-27461368 2:27238500-27238500

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 50:

73
# Symbol AA change Variation ID SNP ID
1 CAD p.Arg2024Gln VAR_073955 rs763410987

Expression for Developmental and Epileptic Encephalopathy 50

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 50.

Pathways for Developmental and Epileptic Encephalopathy 50

Pathways related to Developmental and Epileptic Encephalopathy 50 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.85 PKLR CAD

GO Terms for Developmental and Epileptic Encephalopathy 50

Biological processes related to Developmental and Epileptic Encephalopathy 50 according to GeneCards Suite gene sharing:

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

Sources for Developmental and Epileptic Encephalopathy 50

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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