Immunodeficiency due to ficolin3 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: FICOLIN 3 DEFICIENCY
FCN3 DEFICIENCY
Number of Symptoms 5
OrphanetNr: 331190
OMIM Id: 613860
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:0200043) Verrucae 19535802 IBIS 11 / 7739
2
 (HPO:0002783) Recurrent lower respiratory tract infections 19535802 IBIS 8 / 7739
3
 (HPO:0002721) Immunodeficiency 97 / 7739
4
 (HPO:0002722) Recurrent abscess formation 19535802 IBIS 4 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Munthe-Fog et al. (2009) reported a patient with immunodeficiency and recurrent infections since childhood who had a complete ficolin-3 deficiency. Other features included brain abscesses and recurrent warts on the fingers. He had normal levels of lymphocytes, normal ...
Molecular genetics OMIM In a man with immunodeficiency and recurrent infections associated with ficolin-3 deficiency, Munthe-Fog et al. (2009) identified homozygosity for a 1-bp deletion (1637delC; 604973.0001) in exon 5 of the FCN3 gene. The patient was born of Macedonian and ...