C9 gene related symptoms and diseases

All the information presented here about the C9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to C9 gene

Symptoms // Phenotype % Cases
Neoplasm Uncommon - Between 30% and 50% cases
Jaundice Uncommon - Between 30% and 50% cases
Stomach cancer Uncommon - Between 30% and 50% cases
Hemoglobinuria Uncommon - Between 30% and 50% cases
Complement deficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with C9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Paroxysmal nocturnal hemoglobinuria
  • Decreased serum complement C9
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Rare diseases associated to C9 gene

Here you will find a list of rare diseases related to the C9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COMPLEMENT COMPONENT 9 DEFICIENCY; C9D


Alternate names

COMPLEMENT COMPONENT 9 DEFICIENCY; C9D Is also known as c9 deficiency

Most common symptoms of COMPLEMENT COMPONENT 9 DEFICIENCY; C9D

  • Neoplasm
  • Jaundice
  • Stomach cancer
  • Hemoglobinuria
  • Complement deficiency


More info about COMPLEMENT COMPONENT 9 DEFICIENCY; C9D

SOURCES: OMIM MESH

MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15



More info about MACULAR DEGENERATION, AGE-RELATED, 15; ARMD15

SOURCES: OMIM

IMMUNODEFICIENCY DUE TO A LATE COMPONENT OF COMPLEMENT DEFICIENCY


Alternate names

IMMUNODEFICIENCY DUE TO A LATE COMPONENT OF COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c5 to c9 component complement deficiency, terminal complement pathway deficiency

Description

Immunodeficiency due to a late component of complement deficiency is a primary immunodeficiency due to an anomaly in either complement components C5, C6, C7, C8 or C9 and is typically characterized by meningitis due to often recurrent meningococcal infections. The prognosis is generally favorable.


More info about IMMUNODEFICIENCY DUE TO A LATE COMPONENT OF COMPLEMENT DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for C9 gene

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

C9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C9 gene.

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

ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ATYPICAL HEMOLYTIC UREMIC SYNDROME: NGS PANEL that also includes the following genes: CFB THBD C1S C2 C3 C3AR1 C8A C9 CFHR4 CFHR3

More info about this panel

Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes Panel

Spain.

By Reference Laboratory Genetics Macular Degeneration Related Disorders , Panel Massive Sequencing (NGS) 15 Genes that also includes the following genes: CFB C2 C3 C9 RAX2 HMCN1 CST3 CX3CR1 ARMS2 ABCA4

More info about this panel


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