MCID: FCL083
MIFTS: 24

Ficolin 3 Deficiency

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

Aliases & Classifications for Ficolin 3 Deficiency

MalaCards integrated aliases for Ficolin 3 Deficiency:

Name: Ficolin 3 Deficiency 57 75
Immunodeficiency Due to Ficolin 3 Deficiency 57 75 29 13 6 40 73
Fcn3 Deficiency 57 75
Lcapd3 57 75
Lectin Complement Activation Pathway, Defect in, 3; Lcapd3 57
Lectin Complement Activation Pathway, Defect in, 3 57
Defect in Lectin Complement Activation Pathway, 3 75
Immunodeficiency Due to Ficolin3 Deficiency 59
Ficolin 3 13
Fcn3d 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
ficolin 3 deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 613860
Orphanet 59 ORPHA331190
ICD10 via Orphanet 34 D84.1
MedGen 42 C3151226
MeSH 44 D007153
UMLS 73 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)

MalaCards based summary : Ficolin 3 Deficiency, also known as immunodeficiency due to ficolin 3 deficiency, is related to lubs x-linked mental retardation syndrome. An important gene associated with Ficolin 3 Deficiency is FCN3 (Ficolin 3). Affiliated tissues include brain and t cells, and related phenotypes are immunodeficiency and recurrent lower respiratory tract infections

UniProtKB/Swiss-Prot : 75 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.

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 lubs x-linked mental retardation syndrome 9.0 ATP6AP1 GDI1

Symptoms & Phenotypes for Ficolin 3 Deficiency

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Ficolin 3 Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721
2 recurrent lower respiratory tract infections 32 HP:0002783
3 verrucae 32 HP:0200043
4 recurrent abscess formation 32 HP:0002722

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 FCN3

Anatomical Context for Ficolin 3 Deficiency

MalaCards organs/tissues related to Ficolin 3 Deficiency:

41
Brain, T Cells

Publications for Ficolin 3 Deficiency

Articles related to Ficolin 3 Deficiency:

# Title Authors Year
1
[Expression and purification ficolin 3 and its role for RAW264.7 macrophage activation in vitro]. ( 25001927 )
2014
2
The innate immune component ficolin 3 (Hakata antigen) mediates the clearance of late apoptotic cells. ( 17469142 )
2007

Variations for Ficolin 3 Deficiency

ClinVar genetic disease variations for Ficolin 3 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FCN3 NM_003665.3(FCN3): c.349delC (p.Leu117Serfs) deletion Pathogenic rs532781899 GRCh37 Chromosome 1, 27699671: 27699671
2 FCN3 NM_003665.3(FCN3): c.349delC (p.Leu117Serfs) deletion Pathogenic rs532781899 GRCh38 Chromosome 1, 27373180: 27373180
3 ATP6AP1 NM_001183.5(ATP6AP1): c.1284G> A (p.Met428Ile) single nucleotide variant Pathogenic rs878853275 GRCh37 Chromosome X, 153664108: 153664108
4 ATP6AP1 NM_001183.5(ATP6AP1): c.1284G> A (p.Met428Ile) single nucleotide variant Pathogenic rs878853275 GRCh38 Chromosome X, 154435762: 154435762
5 ATP6AP1 NM_001183.5(ATP6AP1): c.431T> C (p.Leu144Pro) single nucleotide variant Pathogenic rs878853276 GRCh37 Chromosome X, 153660679: 153660679
6 ATP6AP1 NM_001183.5(ATP6AP1): c.431T> C (p.Leu144Pro) single nucleotide variant Pathogenic rs878853276 GRCh38 Chromosome X, 154432333: 154432333
7 ATP6AP1 NM_001183.5(ATP6AP1): c.1036G> A (p.Glu346Lys) single nucleotide variant Pathogenic rs878853277 GRCh38 Chromosome X, 154435338: 154435338
8 ATP6AP1 NM_001183.5(ATP6AP1): c.1036G> A (p.Glu346Lys) single nucleotide variant Pathogenic rs878853277 GRCh37 Chromosome X, 153663684: 153663684
9 ATP6AP1 NM_001183.5(ATP6AP1): c.938A> G (p.Tyr313Cys) single nucleotide variant Pathogenic rs878853278 GRCh37 Chromosome X, 153663499: 153663499
10 ATP6AP1 NM_001183.5(ATP6AP1): c.938A> G (p.Tyr313Cys) single nucleotide variant Pathogenic rs878853278 GRCh38 Chromosome X, 154435153: 154435153

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

Molecular functions related to Ficolin 3 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Rab GTPase binding GO:0017137 8.62 ATP6AP1 GDI1

Sources for Ficolin 3 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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