MGA7
MCID: CLP007
MIFTS: 13

Clpb Deficiency (MGA7)

Categories: Cancer diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Clpb Deficiency

MalaCards integrated aliases for Clpb Deficiency:

Name: Clpb Deficiency 25 43
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia 43
3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome 43
3-Methylglutaconic Aciduria Type Vii 43
Caseinolytic Peptidase B Deficiency 25
3-Methylglutaconic Aciduria Type 7 43
Megcann 43
Mgca7 43
Mga7 43

Classifications:



Summaries for Clpb Deficiency

MedlinePlus Genetics : 43 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.In the most severely affected individuals, features of CLPB deficiency are apparent in infancy and sometimes at birth. Affected babies have serious neurological problems, which can include an exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud noises, reduced movement, muscle tone that is either decreased (hypotonia) or increased (hypertonia), swallowing problems, difficulty breathing, and recurrent seizures (epilepsy). These babies may also have movement abnormalities, such as difficulty coordinating movements (ataxia), involuntary tensing of the muscles (dystonia), or uncontrolled movements of the body (dyskinesia). In addition, these babies have recurrent, life-threatening infections due to severe neutropenia. Affected individuals are at risk of developing a blood cell disorder called myelodysplastic syndrome or a form of blood cancer called leukemia. Because of their severe health problems, affected infants usually live only a few weeks or months.Moderately affected individuals have neurological problems similar to those described above, although they are less severe. They include hypotonia, muscle stiffness (spasticity), and movement abnormalities. Other features of moderate CLPB deficiency include epilepsy and mild to severe intellectual disability. Neutropenia in these individuals can lead to recurrent infections, although they are not life-threatening.Mildly affected individuals have no neurological problems, and although they have neutropenia, it does not increase the risk of infections. Some people with mild CLPB deficiency develop deposits of calcium in the kidneys (nephrocalcinosis) or kidney (renal) cysts.Many people with mild, moderate, or severe CLPB deficiency have clouding of the lenses of the eyes (cataracts) from birth (congenital) or beginning in infancy.CLPB deficiency is associated with increased levels of a substance called 3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). This abnormality, which provides a clue to the diagnosis, does not appear to cause any health problems.

MalaCards based summary : Clpb Deficiency, also known as 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, is related to 3-methylglutaconic aciduria, type viii and 3-methylglutaconic aciduria, type vii. An important gene associated with Clpb Deficiency is CLPB (Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit B).

GeneReviews: NBK396257

Related Diseases for Clpb Deficiency

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 3-methylglutaconic aciduria, type viii 11.4
2 3-methylglutaconic aciduria, type vii 11.4
3 3-methylglutaconic aciduria 10.2
4 alacrima, achalasia, and mental retardation syndrome 9.9
5 hyperekplexia 9.9
6 neutropenia 9.9
7 dystonia 9.9
8 learning disability 9.9
9 hypertonia 9.9
10 hypotonia 9.9
11 spasticity 9.9

Graphical network of the top 20 diseases related to Clpb Deficiency:



Diseases related to Clpb Deficiency

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

Articles related to Clpb Deficiency:

(show all 14)
# Title Authors PMID Year
1
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. 61 25
25595726 2015
2
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. 25
26916670 2016
3
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. 25
25650066 2015
4
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 25
25597510 2015
5
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 25
25597511 2015
6
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 25
23296368 2013
7
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. 25
23355087 2013
8
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. 25
23918762 2013
9
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. 25
20855850 2010
10
The AAA+ superfamily of functionally diverse proteins. 25
18466635 2008
11
[Clinical and genetic analysis of an infant with 3-methylglutaconic aciduria type VII]. 61
32219827 2020
12
Mitochondrial dysfunction, AMPK activation and peroxisomal metabolism: A coherent scenario for non-canonical 3-methylglutaconic acidurias. 61
31626852 2020
13
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. 61
28687938 2017
14
CLPB Deficiency 61
27891836 2016

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
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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