MCID: AFB001
MIFTS: 49

Afibrinogenemia

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

Aliases & Classifications for Afibrinogenemia

MalaCards integrated aliases for Afibrinogenemia:

Name: Afibrinogenemia 53 37 29 55 6 73
Congenital Hypofibrinogenemia 73
Congenital Afibrinogenemia 53
Afibrinogenemia Congenital 53

Classifications:



External Ids:

KEGG 37 H00222

Summaries for Afibrinogenemia

NIH Rare Diseases : 53 Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inheritedblood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or coagulation factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessivetrait. Treatment may include cryoprecipitate (a blood product containing concentrated fibrinogen and other clotting factors), fibrinogen (RiaSTAP) or plasma (the liquid portion of the blood which contains clotting factors). 

MalaCards based summary : Afibrinogenemia, also known as congenital hypofibrinogenemia, is related to afibrinogenemia, congenital and dysfibrinogenemia, congenital. An important gene associated with Afibrinogenemia is CFI (Complement Factor I), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Hemostatics and Complement Factor I have been mentioned in the context of this disorder. Affiliated tissues include placenta, liver and prostate, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Afibrinogenemia

Diseases in the Afibrinogenemia family:

Afibrinogenemia, Congenital

Diseases related to Afibrinogenemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 afibrinogenemia, congenital 33.4 C3 CFI F2 F3 FGA FGB
2 dysfibrinogenemia, congenital 31.9 FGA FGB FGG
3 spinal cord infarction 30.1 F2 F5
4 purpura 29.7 F2 F3 VWF
5 thrombotic thrombocytopenic purpura 29.7 CD46 F3 VWF
6 hemophilia 29.6 F2 F3 F8 VWF
7 dysfibrinogenemia 29.5 F2 F5 FGA FGB FGG
8 thrombosis 29.4 F10 F2 F3 F5 F8 VWF
9 von willebrand's disease 29.2 F11 F2 F3 F5 F8 VWF
10 thrombophilia due to thrombin defect 29.0 F10 F2 F3 F5 F8 VWF
11 pulmonary embolism 28.9 F10 F2 F3 F5 VWF
12 myocardial infarction 28.3 F10 F11 F2 F3 F5 F8
13 hypofibrinogenemia, familial 11.1
14 chronic thromboembolic pulmonary hypertension 10.2 F2 FGA
15 c3 glomerulopathy 10.2 C3 CFP
16 chronic monocytic leukemia 10.2 C3 F2
17 complement factor h deficiency 10.2 CD46 CFI
18 vitamin k deficiency hemorrhagic disease 10.2 F2 F8
19 complement component 3 deficiency 10.2 C3 CFI CFP
20 prothrombin deficiency 10.1 F2 F3
21 fainting 10.1 F8 VWF
22 cerebral arteritis 10.1 F8 VWF
23 cardiac tamponade 10.1 F2 F8
24 variola minor 10.1 CD46 CR1
25 cerebral falx meningioma 10.1 F2 F3
26 thrombocytopenia 10.1
27 intestinal impaction 10.1 F2 F3
28 giant hemangioma 10.1 F2 F3
29 active peptic ulcer disease 10.1 F2 VWF
30 thyroid crisis 10.1 CR1 F8
31 livedoid vasculitis 10.1 F2 F8
32 blue toe syndrome 10.1 F2 F3
33 enterocolitis 10.1 C3 CD46 CFI
34 ascending cholangitis 10.1 C3 F2
35 femoral neuropathy 10.1 F2 F3
36 hantavirus pulmonary syndrome 10.1 F2 F3
37 dysbaric osteonecrosis 10.1 C3 F3
38 anterior cranial fossa meningioma 10.1 F2 F3
39 neisseria meningitidis infection 10.1 C3 CD46 CFP
40 marantic endocarditis 10.1 F2 F3
41 complement deficiency 10.1 C3 CD46 CFP
42 membranoproliferative glomerulonephritis 10.1 C3 CD46 CFP
43 vascular hemostatic disease 10.1 F2 F3
44 lemierre's syndrome 10.1 C3 F11 F3
45 acquired von willebrand syndrome 10.0 F11 F8 VWF
46 splenic disease 10.0 F2 F3
47 protein c deficiency 10.0
48 acquired angioedema 10.0 C3 F5
49 factor xi deficiency 10.0 F11 F2 F3
50 purpura fulminans 10.0 F2 F3

Graphical network of the top 20 diseases related to Afibrinogenemia:



Diseases related to Afibrinogenemia

Symptoms & Phenotypes for Afibrinogenemia

MGI Mouse Phenotypes related to Afibrinogenemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 C3 CD46 CFP F10 F11 F2
2 homeostasis/metabolism MP:0005376 10.1 C3 CFI CFP F10 F11 F2
3 hematopoietic system MP:0005397 10.02 C3 CFI F11 F2 F3 F8
4 mortality/aging MP:0010768 9.93 C3 CFP F10 F11 F2 F3
5 immune system MP:0005387 9.91 C3 CFP F11 F2 F3 F8
6 nervous system MP:0003631 9.61 C3 CD46 F11 F2 F3 F5
7 reproductive system MP:0005389 9.23 C3 CD46 F10 F2 F8 FGA

Drugs & Therapeutics for Afibrinogenemia

Drugs for Afibrinogenemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics Phase 3,Phase 2
2 Complement Factor I

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Human Fibrinogen Concentrate in Pediatric Cardiac Surgery Recruiting NCT02822599 Phase 4 RiaStAP;Saline
2 Human Fibrinogen Concentrate (FGTW) in Pediatric Patients With Congenital Fibrinogen Deficiency Completed NCT02094430 Phase 2, Phase 3 biological: human fibrinogen concentrate
3 Haemocomplettan® P During Elective Complex Cardiac Surgery Completed NCT01124981 Phase 2, Phase 3 Haemocomplettan® P;Human albumin (Placebo)
4 Efficacy and Safety Study of Octafibrin for On-demand Treatment of Acute Bleeding and to Prevent Bleeding During and After Surgery Completed NCT02267226 Phase 3 Octafibrin
5 Pharmacokinetic, Efficacy and Safety of BT524 in Patients With Congenital Fibrinogen Deficiency Recruiting NCT02065882 Phase 3
6 Study to Assess the Efficacy, Safety and Pharmacokinetic of Octafibrin in Paediatric Subjects With Fibrinogen Deficiency Recruiting NCT02408484 Phase 3
7 Fibrinogen Concentrate (Human) − Efficacy and Safety Study Withdrawn NCT00916656 Phase 3
8 Pharmacokinetic, Efficacy, and Safety Study of Octafibrin Compared to Haemocomplettan/Riastap Completed NCT01575756 Phase 2
9 Human Fibrinogen - Pharmacokinetics Completed NCT00496262 Phase 2
10 Pharmacokinetics, Efficacy, and Safety of Human Plasma-Derived Fibrinogen (FIB Grifols) in Patients With Congenital Afibrinogenemia Recruiting NCT02281500 Phase 1, Phase 2
11 RiaSTAP vs. Conventional Transfusion in Patients Having Heart Valve Surgery Terminated NCT01283321 Phase 2 Human fibrinogen concentrate
12 An Observational Cohort Study of the Safety and Efficacy of Fibrinogen Concentrate, Human (FCH) in Subjects With Congenital Fibrinogen Deficiency Completed NCT02427217
13 Quality of Life in Patients With Congenital Afibrinogenemia Recruiting NCT03484065
14 Safety and Efficacy of Fibryga in Congenital Fibrinogen Deficiency Not yet recruiting NCT03793426

Search NIH Clinical Center for Afibrinogenemia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Afibrinogenemia

Genetic tests related to Afibrinogenemia:

# Genetic test Affiliating Genes
1 Afibrinogenemia 29 CFI

Anatomical Context for Afibrinogenemia

MalaCards organs/tissues related to Afibrinogenemia:

41
Placenta, Liver, Prostate, Spinal Cord, Heart, Thyroid, Monocytes

Publications for Afibrinogenemia

Articles related to Afibrinogenemia:

(show top 50) (show all 285)
# Title Authors Year
1
Administering RiaSTAP for Congenital Afibrinogenemia During Liver Transplant. ( 29766777 )
2018
2
Successful delivery in an patient with afibrinogenemia after three abortions: A case report and review of the literature. ( 29388741 )
2018
3
The Novel Protease-Activated Receptor 1 Antagonist Vorapaxar as a Treatment for Thrombosis in Afibrinogenemia. ( 29763961 )
2018
4
Combined life-threatening thromboses and hemorrhages in a patient with afibrinogenemia and antithrombin deficiency. ( 29636644 )
2018
5
Ischemic Strokes in a Man with Congenital Afibrinogenemia. ( 30019658 )
2018
6
Impaired factor XIII activation in patients with congenital afibrinogenemia. ( 30262556 )
2018
7
Thromboelastography and thrombin generation assay in inherited afibrinogenemia. ( 30345592 )
2018
8
Congenital hypofibrinogenemia in pregnancy: a report of 11 cases. ( 29176380 )
2018
9
Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. ( 28912669 )
2017
10
Afibrinogenemia Acquired by Liver Transplant. ( 28952920 )
2017
11
A Novel Mutation in the Fibrinogen Bβ Chain (c.490G>A; End of Exon 3) Causes a Splicing Abnormality and Ultimately Leads to Congenital Hypofibrinogenemia. ( 29156616 )
2017
12
A novel missense mutation in the FGB gene (p.Gly302Arg) leading to afibrinogenemia. Predicted structure and function consequences. ( 27824214 )
2016
13
Congenital afibrinogenemia: a case report of a spontaneous hepatic hematoma. ( 27428204 )
2016
14
[Congenital afibrinogenemia: about a case]. ( 28293349 )
2016
15
Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma. ( 27253088 )
2016
16
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty. ( 27472424 )
2016
17
A Rare Complication Of Congenital Afibrinogenemia: Bone Cysts. ( 27094883 )
2016
18
Post-authorization safety study of Clottafact(Ar) , a triply secured fibrinogen concentrate in congenital afibrinogenemia. A prospective observational study. ( 27583698 )
2016
19
Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management. ( 27291795 )
2016
20
Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia. ( 27148845 )
2016
21
Congenital afibrinogenemia: Identification and characterization of two novel homozygous fibrinogen Aα and Bβ chain mutations in two Tunisian families. ( 27164460 )
2016
22
Paradoxical bleeding and thrombosis in a patient with afibrinogenemia and fibrinogen mumbai mutation. ( 25873512 )
2015
23
[Congenital hypofibrinogenemia associated with a novel mutation in FGG gene]. ( 26037343 )
2015
24
Umbilical bleeding: a presenting feature for congenital afibrinogenemia. ( 26407137 )
2015
25
Thrombosis of abdominal aorta in congenital afibrinogenemia: case report and review of literature. ( 25421938 )
2015
26
Resolution of fibrinogen deficiency in a patient with congenital afibrinogenemia after liver transplantation. ( 26421965 )
2015
27
Yes or no for secondary prophylaxis in afibrinogenemia? ( 26484644 )
2015
28
Massive hemoperitoneum due to a ruptured corpus luteum cyst in a patient with congenital hypofibrinogenemia. ( 26430672 )
2015
29
Venous thrombosis in afibrinogenemia: a successful use of rivaroxaban. ( 26036982 )
2015
30
Congenital hypofibrinogenemia associated with novel homozygous fibrinogen AI+ and heterozygous BI^ chain mutations. ( 25981141 )
2015
31
Novel fibrinogen bbeta chain mutation as an underlying mechanism of afibrinogenemia? ( 26485721 )
2015
32
Targeted mutation of zebrafish fga models human congenital afibrinogenemia. ( 24553182 )
2014
33
Recurrent myocardial infarction in a case of congenital afibrinogenemia. ( 24949183 )
2014
34
Recurrent massive haemoperitoneum associated with ruptured corpus luteum in women with congenital afibrinogenemia; case report. ( 28913028 )
2014
35
Congenital afibrinogenemia in a new born: a rare cause for bleeding. ( 24509333 )
2014
36
Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management. ( 24509337 )
2014
37
Novel mutations (I^Trp208Leu and I^Lys232Thr) leading to congenital hypofibrinogenemia in two unrelated Chinese families. ( 24914742 )
2014
38
Spontaneous splenic rupture in a patient with congenital afibrinogenemia. ( 26078670 )
2014
39
A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations. ( 25255238 )
2014
40
Novel homozygous fibrinogen AI+ chain truncation causes severe afibrinogenemia with life threatening complications in a two-year-old boy. ( 24050829 )
2013
41
Percutaneous coronary intervention in a case of afibrinogenemia. ( 24570509 )
2013
42
Treatment of afibrinogenemia in a chihuahua. ( 23148136 )
2013
43
Pulmonary embolism in a patient with congenital afibrinogenemia. ( 23855372 )
2013
44
Diagnosis and non-surgical periodontal management in congenital afibrinogenemia: report of a rare case. ( 22323341 )
2012
45
Successful ABO-incompatible kidney transplantation in patient with congenital afibrinogenemia. ( 22624802 )
2012
46
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia. ( 22732251 )
2012
47
Epidural hematoma and cephalohematoma with congenital hypofibrinogenemia. ( 22343679 )
2012
48
Prophylactic administration of fibrinogen concentrate in a pregnant woman with congenital hypofibrinogenemia and a positive obstetric history of severe bleeding in previous cesarean section. ( 22874742 )
2012
49
Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder. ( 22223906 )
2011
50
Chronic subdural hematoma in a patient with congenital afibrinogenemia successfully treated with fibrinogen replacement. ( 22123482 )
2011

Variations for Afibrinogenemia

ClinVar genetic disease variations for Afibrinogenemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFI NM_000204.4(CFI): c.1253A> T (p.His418Leu) single nucleotide variant Pathogenic rs121964912 GRCh37 Chromosome 4, 110667554: 110667554
2 CFI NM_000204.4(CFI): c.1253A> T (p.His418Leu) single nucleotide variant Pathogenic rs121964912 GRCh38 Chromosome 4, 109746398: 109746398
3 CFI CFI, IVS5DS G-A, -1 single nucleotide variant Pathogenic
4 CFI CFI, 2-BP INS, 1205AT insertion Pathogenic
5 CFI NM_000204.4(CFI): c.728G> A (p.Gly243Asp) single nucleotide variant Pathogenic rs121964916 GRCh37 Chromosome 4, 110681723: 110681723
6 CFI NM_000204.4(CFI): c.728G> A (p.Gly243Asp) single nucleotide variant Pathogenic rs121964916 GRCh38 Chromosome 4, 109760567: 109760567
7 CFI NM_000204.4(CFI): c.80_81delAT (p.Asp27Alafs) deletion Pathogenic rs886043418 GRCh37 Chromosome 4, 110687957: 110687958
8 CFI NM_000204.4(CFI): c.80_81delAT (p.Asp27Alafs) deletion Pathogenic rs886043418 GRCh38 Chromosome 4, 109766801: 109766802
9 CFI NM_000204.4(CFI): c.162C> G (p.Cys54Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 110687876: 110687876
10 CFI NM_000204.4(CFI): c.162C> G (p.Cys54Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 109766720: 109766720

Expression for Afibrinogenemia

Search GEO for disease gene expression data for Afibrinogenemia.

Pathways for Afibrinogenemia

Pathways related to Afibrinogenemia according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 F10 F11 F2 F3 F5 F8
2
Show member pathways
12.53 F10 F11 F2 F3 F5 F8
3
Show member pathways
12.15 FGA FGB FGG VWF
4
Show member pathways
11.99 FGA FGB FGG VWF
5
Show member pathways
11.96 C3 CD46 CFI CR1
6 11.94 C3 CD46 CFI CR1 F10 F11
7
Show member pathways
11.93 C3 CD46 CFI CFP CR1
8
Show member pathways
11.91 FGA FGB FGG VWF
9 11.85 FGA FGB FGG VWF
10
Show member pathways
11.76 C3 CD46 CFP CR1
11
Show member pathways
11.76 F2 FGA FGB FGG VWF
12
Show member pathways
11.52 F10 F11 F2 F3 F5 F8
13 11.46 C3 CFI FGG
14 11.39 FGA FGB FGG
15 11.36 F2 FGA FGB FGG VWF
16 10.73 F10 F2

GO Terms for Afibrinogenemia

Cellular components related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.95 CD46 CR1 F3 FGA FGB FGG
2 collagen-containing extracellular matrix GO:0062023 9.85 CFP F3 FGA FGB FGG VWF
3 external side of plasma membrane GO:0009897 9.84 F2 FGA FGB FGG
4 blood microparticle GO:0072562 9.83 C3 F2 FGA FGB FGG
5 endoplasmic reticulum lumen GO:0005788 9.76 C3 CFP F10 F2 F5 F8
6 extracellular vesicle GO:1903561 9.7 F5 FGA FGB
7 fibrinogen complex GO:0005577 9.58 FGA FGB FGG
8 intrinsic component of external side of plasma membrane GO:0031233 9.51 F10 F3
9 platelet alpha granule lumen GO:0031093 9.43 F5 F8 FGA FGB FGG VWF
10 platelet alpha granule GO:0031091 9.02 F5 FGA FGB FGG VWF
11 plasma membrane GO:0005886 10.27 C3 CD46 CR1 F10 F11 F2
12 extracellular exosome GO:0070062 10.16 C3 CD46 CFI CR1 F11 F2
13 extracellular space GO:0005615 10.1 C3 CFI CFP F10 F11 F2
14 extracellular region GO:0005576 10.07 C3 CFI CFP F10 F11 F2

Biological processes related to Afibrinogenemia according to GeneCards Suite gene sharing:

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.97 C3 F5 FGA FGG
2 extracellular matrix organization GO:0030198 9.94 FGA FGB FGG VWF
3 ER to Golgi vesicle-mediated transport GO:0006888 9.93 F10 F2 F5 F8
4 cellular protein metabolic process GO:0044267 9.93 C3 F2 F5 FGA FGG
5 complement activation, classical pathway GO:0006958 9.91 C3 CD46 CFI CR1
6 platelet degranulation GO:0002576 9.85 F5 F8 FGA FGB FGG VWF
7 cell-matrix adhesion GO:0007160 9.83 FGA FGB FGG
8 response to calcium ion GO:0051592 9.82 FGA FGB FGG
9 platelet aggregation GO:0070527 9.79 FGA FGB FGG
10 positive regulation of protein secretion GO:0050714 9.78 FGA FGB FGG
11 toll-like receptor signaling pathway GO:0002224 9.77 FGA FGB FGG
12 negative regulation of endothelial cell apoptotic process GO:2000352 9.77 FGA FGB FGG
13 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.76 FGA FGB FGG
14 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.75 FGA FGB FGG
15 positive regulation of vasoconstriction GO:0045907 9.74 FGA FGB FGG
16 positive regulation of exocytosis GO:0045921 9.73 FGA FGB FGG
17 fibrinolysis GO:0042730 9.73 F2 FGA FGB FGG
18 regulation of complement activation GO:0030449 9.73 C3 CD46 CFI CFP CR1 F2
19 cellular protein-containing complex assembly GO:0034622 9.72 FGA FGB FGG
20 blood coagulation, intrinsic pathway GO:0007597 9.71 F11 F2 F8 VWF
21 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.7 FGA FGB FGG
22 protein polymerization GO:0051258 9.69 FGA FGB FGG
23 positive regulation of peptide hormone secretion GO:0090277 9.67 FGA FGB FGG
24 complement activation, alternative pathway GO:0006957 9.66 C3 CFP
25 regulation of blood coagulation GO:0030193 9.66 F11 F2
26 induction of bacterial agglutination GO:0043152 9.65 FGA FGB
27 blood coagulation GO:0007596 9.65 F10 F11 F2 F3 F5 F8
28 blood coagulation, fibrin clot formation GO:0072378 9.63 FGA FGB FGG
29 platelet activation GO:0030168 9.63 F2 F8 FGA FGB FGG VWF
30 blood coagulation, extrinsic pathway GO:0007598 9.62 F10 F3
31 plasminogen activation GO:0031639 9.62 F11 FGA FGB FGG
32 hemostasis GO:0007599 9.32 F10 F11 F2 F3 F5 F8
33 proteolysis GO:0006508 10.1 C3 CFI CFP F10 F11 F2
34 immune system process GO:0002376 10.05 C3 CD46 CR1 FGA FGB
35 innate immune response GO:0045087 10.02 C3 CD46 CFI CFP CR1 FGA

Molecular functions related to Afibrinogenemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.72 C3 F2 FGA FGB FGG
2 cell adhesion molecule binding GO:0050839 9.54 FGA FGB FGG
3 serine-type peptidase activity GO:0008236 9.46 CFI F10 F11 F2
4 extracellular matrix structural constituent GO:0005201 9.26 FGA FGB FGG VWF
5 serine-type endopeptidase activity GO:0004252 9.17 C3 CFI CFP F10 F11 F2
6 protein binding GO:0005515 10.13 C3 CD46 CFI CFP F10 F11

Sources for Afibrinogenemia

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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