CLPB gene related symptoms and diseases

All the information presented here about the CLPB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CLPB gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Abnormality of extrapyramidal motor function Very Common - Between 80% and 100% cases
Attention deficit hyperactivity disorder Very Common - Between 80% and 100% cases
Leukemia Very Common - Between 80% and 100% cases
Abnormality of movement Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CLPB gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Neutropenia
  • Gliosis
  • Brain atrophy
  • Increased serum lactate
  • Aciduria
  • Neuronal loss in central nervous system
  • Progressive neurologic deterioration
  • Developmental regression

And 36 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to CLPB gene

Here you will find a list of rare diseases related to the CLPB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


3-METHYLGLUTACONIC ACIDURIA TYPE 7


Alternate names

3-METHYLGLUTACONIC ACIDURIA TYPE 7 Is also known as 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome, mga7, mgca7, 3-methylglutaconic aciduria, type vii

Description

3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) is an autosomal recessive inborn error of metabolism characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with neurologic deterioration and neutropenia. The phenotype is highly variable: most patients have infantile onset of a progressive encephalopathy with various movement abnormalities and delayed psychomotor development, although rare patients with normal neurologic development have been reported. Other common, but variable, features include cataracts, seizures, and recurrent infections (summary by Wortmann et al., 2015 and Saunders et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (OMIM ).

Most common symptoms of 3-METHYLGLUTACONIC ACIDURIA TYPE 7

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 7

SOURCES: ORPHANET OMIM


Potential gene panels for CLPB gene

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Single gene testing CLPB Panel

Germany.

By CeGaT GmbH

This panel specifically test the CLPB gene.

More info about this panel

Invitae Hereditary Hyperekplexia Panel Panel

United States.

By Invitae Invitae Hereditary Hyperekplexia Panel that also includes the following genes: SLC6A5 ARHGEF9 GPHN CLPB GLRA1 GLRB

More info about this panel

Invitae 3-Methylglutaconic Aciduria Panel Panel

United States.

By Invitae Invitae 3-Methylglutaconic Aciduria Panel that also includes the following genes: TAZ SERAC1 TMEM70 DNAJC19 CLPB OPA3 AUH

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Phagocyte Defects Panel Panel

United States.

By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA

More info about this panel

CLPB Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CLPB gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

Finland.

By Blueprint Genetics Organic Acidemia/Aciduria & Cobalamin Deficiency Panel that also includes the following genes: BCS1L SLC25A1 SUCLG1 TCN2 UMPS AMN CBS SUGCT CD320 MCEE

More info about this panel

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Congenital Neutropenia Panel Panel

Finland.

By Blueprint Genetics Congenital Neutropenia Panel that also includes the following genes: SMARCD2 SRP72 WAS WDR1 ACTB MRTFA VPS45 HAX1 SBDS LYST

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TONSL MAP3K20-AS1 MYH9 CYP11B2 SCN9A AAGAB ZBTB16

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more