MCID: CDC005
MIFTS: 7

Cad-Cdg

Categories: Rare diseases

Aliases & Classifications for Cad-Cdg

MalaCards integrated aliases for Cad-Cdg:

Name: Cad-Cdg 53
Carbohydrate Deficient Glycoprotein Syndrome Type Iz 53
Encephalopathy, Epileptic, Early Infantile,, Type 50 40
Congenital Disorder of Glycosylation Type 1z 53
Congenital Disorder of Glycosylation Type Iz 53
Early Infantile Epileptic Encephalopathy-50 53
Cdg Syndrome Type Iz 53
Cdg-Iz 53
Cdg1z 53

Classifications:



Summaries for Cad-Cdg

NIH Rare Diseases : 53 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 11.3

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 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
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