Recurrent Neisseria infections due to factor D deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: FACTOR D DEFICIENCY
CFDD
Number of Symptoms 7
OrphanetNr: 169467
OMIM Id: 613912
ICD-10: D84.1
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: Immunodeficiency due to a complement cascade protein anomaly
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0004431) Complement deficiency 10 / 7739
2
 (HPO:0002718) Recurrent bacterial infections 75 / 7739
3
 (OMIM) Decreased activity of complement factor D 1 / 7739
4
 (HPO:0003828) Variable expressivity 130 / 7739
5
 (OMIM) Decreased complement factor D 1 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (OMIM) Increased susceptibility to Neisseria infection 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Complement factor D deficiency is an autosomal recessive immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway (summary by Biesma et al., 2001).
Clinical Description OMIM Kluin-Nelemans et al. (1984) described a partial functional deficiency of factor D in 2 Dutch adult monozygous female twins with recurrent bacterial respiratory infections since childhood.

Hiemstra et al. (1989) reported a 24-year-old Dutch man with ...
Molecular genetics OMIM In a Dutch family with factor D deficiency, Biesma et al. (2001) identified a homozygous mutation in the CFD gene (134350.0001).

In 2 children of a Turkish family with N. meningitis due to complement factor D ...