COMPLEMENT COMPONENT 6 DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: C6 DEFICIENCY, SUBTOTAL, INCLUDED
C6 DEFICIENCY COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL, INCLUDED
C6D
Number of Symptoms 3
OrphanetNr:
OMIM Id: 612446
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0004431) Complement deficiency 10 / 7739
2
(HPO:0005381) Recurrent meningococcal disease 4 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Leddy et al. (1974) and Heusinkveld et al. (1974) described C6 deficiency in an 18-year-old woman in good general health. Her serum lacked hemolytic complement activity. The action of an abnormal inhibitor was excluded. Both parents and 5 ...
Molecular genetics OMIM Hobart et al. (1998), Zhu et al. (1998), and Nishizaka et al. (1996) reported mutations in the C6 gene resulting in total C6 deficiency (see 217050.0003, 217050.0004, and 217050.0005).

- Subtotal C6 Deficiency

Individuals ...

Population genetics OMIM By screening for complement deficiencies in 145,640 blood donors from Osaka and combining their results with reports of 92,686 donors from throughout Japan, Fukumori and Horiuchi (1998) identified 5 individuals with C5 deficiency (609536), 6 individuals with C6 ...