MCID: CDC005
MIFTS: 6

Cad-Cdg

Categories: Rare diseases

Aliases & Classifications for Cad-Cdg

MalaCards integrated aliases for Cad-Cdg:

Name: Cad-Cdg 20
Carbohydrate Deficient Glycoprotein Syndrome Type Iz 20
Congenital Disorder of Glycosylation Type 1z 20
Congenital Disorder of Glycosylation Type Iz 20
Early Infantile Epileptic Encephalopathy-50 20
Cdg Syndrome Type Iz 20
Cdg-Iz 20
Cdg1z 20

Classifications:



Summaries for Cad-Cdg

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 448010 Definition CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.

MalaCards based summary : Cad-Cdg, also known as carbohydrate deficient glycoprotein syndrome type iz, is related to developmental and epileptic encephalopathy 50.

Related Diseases for Cad-Cdg

Diseases related to Cad-Cdg via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 50 11.2

Symptoms & Phenotypes for Cad-Cdg

Drugs & Therapeutics for Cad-Cdg

Search Clinical Trials , NIH Clinical Center for Cad-Cdg

Genetic Tests for Cad-Cdg

Anatomical Context for Cad-Cdg

Publications for Cad-Cdg

Articles related to Cad-Cdg:

# Title Authors PMID Year
1
Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation. 61
32820246 2020
2
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. 61
29396846 2018

Variations for Cad-Cdg

Expression for Cad-Cdg

Search GEO for disease gene expression data for Cad-Cdg.

Pathways for Cad-Cdg

GO Terms for Cad-Cdg

Sources for Cad-Cdg

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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