C1QBP gene related symptoms and diseases
All the information presented here about the C1QBP gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to C1QBP gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Lower limb muscle weakness | Very Common - Between 80% and 100% cases |
| Progressive external ophthalmoplegia | Very Common - Between 80% and 100% cases |
| External ophthalmoplegia | Very Common - Between 80% and 100% cases |
| Exercise intolerance | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with C1QBP gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Amblyopia
- Left ventricular hypertrophy
- Ventricular hypertrophy
- Nephrotic syndrome
- Cardiomegaly
- Oligohydramnios
- Increased serum lactate
- Metabolic acidosis
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to C1QBP gene
Here you will find a list of rare diseases related to the C1QBP. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33
Description
COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).
Most common symptoms of COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33
- Muscle weakness
- Ptosis
- Peripheral neuropathy
- Hepatomegaly
- Fatigue
More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33
SOURCES: OMIM
Search interest in C1QBP
Potential gene panels for C1QBP gene
C1QBP Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C1QBP gene.
More info about this panel United States.
Complement System Disorder Panel Panel
Finland.
By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S
More info about this panel Finland.
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