U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Complement component 9 deficiency(C9D)

MedGen UID:
462539
•Concept ID:
C3151189
•
Disease or Syndrome
Synonyms: C9 deficiency; C9D
 
Gene (location): C9 (5p13.1)
 
Monarch Initiative: MONDO:0013445
OMIM®: 613825

Definition

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene. [from MONDO]

Clinical features

From HPO
Decreased circulating complement C9 concentration
MedGen UID:
866744
•Concept ID:
C4021093
•
Finding
Concentration of the complement component C9 in the blood circulation below the lower limit of normal.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD
Genet Med 2017 Dec;19(12):1367-1375. Epub 2017 Jun 15 doi: 10.1038/gim.2017.57. PMID: 28617419

Recent clinical studies

Etiology

Complement component 9 deficiency is not a susceptibility factor for SLE.
Kanemitsu S, Ihara K, Kira R, Kaku Y, Sakai K, Tsuzaka K, Takeuchi T, Hara T
Lupus 2000;9(6):456-7. doi: 10.1191/096120300678828523. PMID: 10981651

Diagnosis

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD
Genet Med 2017 Dec;19(12):1367-1375. Epub 2017 Jun 15 doi: 10.1038/gim.2017.57. PMID: 28617419

Prognosis

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD
Genet Med 2017 Dec;19(12):1367-1375. Epub 2017 Jun 15 doi: 10.1038/gim.2017.57. PMID: 28617419

Clinical prediction guides

Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Pavey AR, Bodian DL, Vilboux T, Khromykh A, Hauser NS, Huddleston K, Klein E, Black A, Kane MS, Iyer RK, Niederhuber JE, Solomon BD
Genet Med 2017 Dec;19(12):1367-1375. Epub 2017 Jun 15 doi: 10.1038/gim.2017.57. PMID: 28617419

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...