FCN3D
MCID: FCL083
MIFTS: 24

Ficolin 3 Deficiency (FCN3D)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Ficolin 3 Deficiency

MalaCards integrated aliases for Ficolin 3 Deficiency:

Name: Ficolin 3 Deficiency 57 72
Immunodeficiency Due to Ficolin 3 Deficiency 57 72 29 13 6 39 70
Fcn3 Deficiency 57 72
Lcapd3 57 72
Lectin Complement Activation Pathway, Defect in, 3; Lcapd3 57
Lectin Complement Activation Pathway, Defect in, 3 57
Defect in Lectin Complement Activation Pathway, 3 72
Immunodeficiency Due to Ficolin3 Deficiency 58
Fcn3d 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable expressivity
highly variable age at onset
heterozygous carriers have about 50% decrease in serum ficolin-3


HPO:

31
ficolin 3 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM® 57 613860
OMIM Phenotypic Series 57 PS614372
MeSH 44 D007153
ICD10 via Orphanet 33 D84.1
Orphanet 58 ORPHA331190
MedGen 41 C3151226
UMLS 70 C3151226

Summaries for Ficolin 3 Deficiency

OMIM® : 57 Individuals with ficolin-3 deficiency have highly variable manifestations and a variable age of symptom onset. Some patients may show increased susceptibility to infection in the perinatal or neonatal period, whereas others may show autoimmune features as adults. Ficolin-3, also known as H-ficolin, can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Munthe-Fog et al., 2009 and Michalski et al., 2015). For a discussion of genetic heterogeneity of lectin complement activation pathway defects, see LCAPD1 (614372). (613860) (Updated 05-Apr-2021)

MalaCards based summary : Ficolin 3 Deficiency, also known as immunodeficiency due to ficolin 3 deficiency, is related to immune deficiency disease and autoimmune disease. An important gene associated with Ficolin 3 Deficiency is FCN3 (Ficolin 3). Related phenotypes are recurrent staphylococcus aureus infections and necrotizing enterocolitis

UniProtKB/Swiss-Prot : 72 Ficolin 3 deficiency: A disorder characterized by immunodeficiency, recurrent infections, brain abscesses and recurrent warts on the fingers. Affected individuals have normal levels of lymphocytes, normal T-cell responses, and normal antibodies, but a selective deficient antibody response to pneumococcal polysaccharide vaccine.

Wikipedia : 73 Ficolin-3 is a protein that in humans is encoded by the FCN3 gene. Ficolin-3 was initially identified as... more...

Related Diseases for Ficolin 3 Deficiency

Diseases related to Ficolin 3 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immune deficiency disease 10.1
2 autoimmune disease 10.0
3 systemic lupus erythematosus 10.0
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
5 membranous nephropathy 10.0
6 pyelonephritis 10.0
7 lupus erythematosus 10.0
8 meningitis 10.0

Graphical network of the top 20 diseases related to Ficolin 3 Deficiency:



Diseases related to Ficolin 3 Deficiency

Symptoms & Phenotypes for Ficolin 3 Deficiency

Human phenotypes related to Ficolin 3 Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 recurrent staphylococcus aureus infections 31 very rare (1%) HP:0002726
2 necrotizing enterocolitis 31 very rare (1%) HP:0033165
3 verrucae 31 HP:0200043
4 recurrent lower respiratory tract infections 31 HP:0002783
5 recurrent abscess formation 31 HP:0002722

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
increased susceptibility to infections
increased susceptibility to autoimmune diseases
defect in lectin activation pathway of the complement system

Laboratory Abnormalities:
decreased serum ficolin-3

Clinical features from OMIM®:

613860 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ficolin 3 Deficiency

Search Clinical Trials , NIH Clinical Center for Ficolin 3 Deficiency

Genetic Tests for Ficolin 3 Deficiency

Genetic tests related to Ficolin 3 Deficiency:

# Genetic test Affiliating Genes
1 Immunodeficiency Due to Ficolin 3 Deficiency 29

Anatomical Context for Ficolin 3 Deficiency

Publications for Ficolin 3 Deficiency

Articles related to Ficolin 3 Deficiency:

# Title Authors PMID Year
1
Primary Ficolin-3 deficiency--Is it associated with increased susceptibility to infections? 57 6 61
25662573 2015
2
Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. 61 6 57
19535802 2009
3
H-ficolin (ficolin-3) concentrations and FCN3 gene polymorphism in neonates. 57 6
22226667 2012
4
Congenital H-ficolin deficiency in premature infants with severe necrotising enterocolitis. 6 57
20971976 2011
5
A new case of congenital ficolin-3 deficiency with primary immunodeficiency. 61
32634042 2020
6
Fatal pneumococcus meningitis in a child with complement factor ficolin-3 deficiency. 61
31408713 2020
7
Ficolin-3 Deficiency Is Associated with Disease and an Increased Risk of Systemic Lupus Erythematosus. 61
31044336 2019
8
[Inherited deficiency of the initiator molecules of the lectin-complement pathway]. 61
20959679 2010
9
The genetics of ficolins. 61
20375618 2010
10
Characterization of a polymorphism in the coding sequence of FCN3 resulting in a Ficolin-3 (Hakata antigen) deficiency state. 61
18261799 2008

Variations for Ficolin 3 Deficiency

ClinVar genetic disease variations for Ficolin 3 Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FCN3 NM_003665.4(FCN3):c.232+1G>A SNV Pathogenic 984510 GRCh37: 1:27700455-27700455
GRCh38: 1:27373964-27373964
2 FCN3 NM_003665.4(FCN3):c.393+1G>A SNV Pathogenic 1032147 GRCh37: 1:27699626-27699626
GRCh38: 1:27373135-27373135
3 FCN3 NM_003665.4(FCN3):c.895C>T (p.Arg299Ter) SNV Pathogenic 1032148 GRCh37: 1:27695732-27695732
GRCh38: 1:27369241-27369241
4 FCN3 NM_003665.3(FCN3):c.349del (p.Leu117fs) Deletion Uncertain significance 5285 rs532781899 GRCh37: 1:27699671-27699671
GRCh38: 1:27373180-27373180
5 FCN3 NM_003665.4(FCN3):c.620A>G (p.Tyr207Cys) SNV Uncertain significance 1030693 GRCh37: 1:27697125-27697125
GRCh38: 1:27370634-27370634

Expression for Ficolin 3 Deficiency

Search GEO for disease gene expression data for Ficolin 3 Deficiency.

Pathways for Ficolin 3 Deficiency

GO Terms for Ficolin 3 Deficiency

Sources for Ficolin 3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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