MCID: CLP007
MIFTS: 7

Clpb Deficiency

Categories: Neuronal diseases

Aliases & Classifications for Clpb Deficiency

MalaCards integrated aliases for Clpb Deficiency:

Name: Clpb Deficiency 25 26
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia 26
3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome 26
3-Methylglutaconic Aciduria Type Vii 26
Caseinolytic Peptidase B Deficiency 25
3-Methylglutaconic Aciduria Type 7 26
Megcann 26
Mgca7 26
Mga7 26

Classifications:



Summaries for Clpb Deficiency

Genetics Home Reference : 26 CLPB deficiency is a rare disorder characterized by neurological problems and a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and their severity varies widely among affected individuals.

MalaCards based summary : Clpb Deficiency, also known as 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, is related to 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia and 3-methylglutaconic aciduria, type viii.

GeneReviews: NBK396257

Related Diseases for Clpb Deficiency

Diseases related to Clpb Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 11.9
2 3-methylglutaconic aciduria, type viii 11.5

Symptoms & Phenotypes for Clpb Deficiency

Drugs & Therapeutics for Clpb Deficiency

Search Clinical Trials , NIH Clinical Center for Clpb Deficiency

Genetic Tests for Clpb Deficiency

Anatomical Context for Clpb Deficiency

Publications for Clpb Deficiency

Variations for Clpb Deficiency

Expression for Clpb Deficiency

Search GEO for disease gene expression data for Clpb Deficiency.

Pathways for Clpb Deficiency

GO Terms for Clpb Deficiency

Sources for Clpb Deficiency

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
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38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
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47 MGI
50 NCI
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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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