MCID: CDC005
MIFTS: 7

Cad-Cdg

Categories: Rare diseases

Aliases & Classifications for Cad-Cdg

MalaCards integrated aliases for Cad-Cdg:

Name: Cad-Cdg 54
Carbohydrate Deficient Glycoprotein Syndrome Type Iz 54
Encephalopathy, Epileptic, Early Infantile,, Type 50 41
Congenital Disorder of Glycosylation Type 1z 54
Congenital Disorder of Glycosylation Type Iz 54
Early Infantile Epileptic Encephalopathy-50 54
Cdg Syndrome Type Iz 54
Cdg-Iz 54
Cdg1z 54

Classifications:



Summaries for Cad-Cdg

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 448010Disease definitionCAD-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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cad-Cdg, also known as carbohydrate deficient glycoprotein syndrome type iz, is related to epileptic encephalopathy, early infantile, 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 epileptic encephalopathy, early infantile, 50 11.4

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

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
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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