MGA7
MCID: CLP007
MIFTS: 15

Clpb Deficiency (MGA7)

Categories: Cancer diseases, Nephrological diseases, Neuronal diseases

Aliases & Classifications for Clpb Deficiency

MalaCards integrated aliases for Clpb Deficiency:

Name: Clpb Deficiency 24 25
3-Methylglutaconic Aciduria with Cataracts, Neurologic Involvement and Neutropenia 25
3-Methylglutaconic Aciduria-Cataract-Neurologic Involvement-Neutropenia Syndrome 25
3-Methylglutaconic Aciduria Type Vii 25
Caseinolytic Peptidase B Deficiency 24
3-Methylglutaconic Aciduria Type 7 25
Megcann 25
Mgca7 25
Mga7 25

Classifications:



Summaries for Clpb Deficiency

Genetics Home Reference : 25 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 alacrima, achalasia, and mental retardation syndrome. An important gene associated with Clpb Deficiency is CLPB (ClpB Homolog, Mitochondrial AAA ATPase Chaperonin). Affiliated tissues include kidney, eye and brain.

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, type viii 11.6
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia 10.1
4 hyperekplexia 10.1
5 neutropenia 10.1
6 dystonia 10.1
7 learning disability 10.1
8 hypertonia 10.1
9 hypotonia 10.1
10 spasticity 10.1

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

MalaCards organs/tissues related to Clpb Deficiency:

41
Kidney, Eye, Brain

Publications for Clpb Deficiency

Articles related to Clpb Deficiency:

(show all 12)
# 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. 38 4
25595726 2015
2
Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. 4
26916670 2016
3
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. 4
25650066 2015
4
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. 4
25597511 2015
5
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. 4
25597510 2015
6
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. 4
23296368 2013
7
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. 4
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. 4
23918762 2013
9
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. 4
20855850 2010
10
The AAA+ superfamily of functionally diverse proteins. 4
18466635 2008
11
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. 38
28687938 2017
12
CLPB Deficiency 38
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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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