CD59 gene related symptoms and diseases

All the information presented here about the CD59 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CD59 gene

Symptoms // Phenotype % Cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Limb muscle weakness Very Common - Between 80% and 100% cases
Hemoglobinuria Very Common - Between 80% and 100% cases
Hemolytic-uremic syndrome Very Common - Between 80% and 100% cases
Increased CSF protein Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CD59 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Peripheral demyelination
  • Polyneuropathy
  • Hematuria
  • Hemolytic anemia
  • Paralysis
  • Muscle weakness
  • Pallor
  • Respiratory failure

And 6 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 CD59 gene

Here you will find a list of rare diseases related to the CD59. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PRIMARY CD59 DEFICIENCY


Alternate names

PRIMARY CD59 DEFICIENCY Is also known as cd59 deficiency

Description

Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).

Most common symptoms of PRIMARY CD59 DEFICIENCY

  • Generalized hypotonia
  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Respiratory insufficiency


More info about PRIMARY CD59 DEFICIENCY

SOURCES: MESH ORPHANET OMIM


Potential gene panels for CD59 gene

Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CD59 gene.

More info about this panel

Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CD59 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Complement deficiencies Panel Panel

Germany.

By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3

More info about this panel

Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59

More info about this panel

CD59 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CD59 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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NNT PDGFRB TRAPPC10 NAALADL2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more