MCID: MYH016
MIFTS: 37

Myh-Associated Polyposis

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Myh-Associated Polyposis

MalaCards integrated aliases for Myh-Associated Polyposis:

Name: Myh-Associated Polyposis 52 29 6
Autosomal Recessive Familial Adenomatous Polyposis 52
Autosomal Recessive Multiple Colorectal Adenomas 52
Map Syndrome 52

Classifications:



Summaries for Myh-Associated Polyposis

NIH Rare Diseases : 52 MYH-associated polyposis is an inherited condition characterized by the development of multiple adenomatous colon polyps and an increased risk of colorectal cancer . This condition, a milder form of familial adenomatous polyposis (FAP), is sometimes called autosomal recessive familial adenomatous polyposis because it is inherited in an autosomal recessive manner. People with this condition have fewer polyps than those with the classic type of FAP; fewer than 100 polyps typically develop, rather than hundreds or thousands. They may also be at increased risk for upper gastrointestinal polyps. MYH-associated polyposis is caused by mutations in the MYH gene .

MalaCards based summary : Myh-Associated Polyposis, also known as autosomal recessive familial adenomatous polyposis, is related to familial adenomatous polyposis and familial adenomatous polyposis 2. An important gene associated with Myh-Associated Polyposis is MUTYH (MutY DNA Glycosylase), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. Affiliated tissues include colon, testes and breast, and related phenotypes are homeostasis/metabolism and neoplasm

Related Diseases for Myh-Associated Polyposis

Diseases related to Myh-Associated Polyposis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 31.9 MUTYH MSH2 KRAS HRAS APC
2 familial adenomatous polyposis 2 30.6 MUTYH GGT1
3 hyperplastic polyposis syndrome 30.4 MUTYH KRAS APC
4 jejunal cancer 30.2 MUTYH MSH2
5 colorectal cancer, hereditary nonpolyposis, type 6 30.2 MUTYH MSH2
6 muir-torre syndrome 30.2 MUTYH MSH2
7 desmoid tumor 30.1 MUTYH APC
8 attenuated familial adenomatous polyposis 30.1 MUTYH MSH2 APC
9 familial colorectal cancer 30.1 MUTYH MSH2 APC
10 adenoma 30.1 MUTYH MSH2 KRAS APC
11 mismatch repair cancer syndrome 29.9 MSH2 APC
12 colorectal cancer, hereditary nonpolyposis, type 5 29.7 MUTYH MSH2 APC
13 rectum adenocarcinoma 29.5 MSH2 KRAS HRAS
14 colorectal adenoma 29.3 MUTYH MSH2 KRAS HRAS APC
15 adenocarcinoma 29.2 MSH2 KRAS HRAS APC
16 lynch syndrome 29.0 MUTYH MSH2 KRAS HRAS APC
17 rectum cancer 28.6 MUTYH MSH2 KRAS HRAS APC
18 endometrial cancer 28.5 MUTYH MSH2 KRAS HRAS APC
19 pancreatic cancer 27.4 MSH2 KRAS HRAS GGT1 APC
20 mutyh polyposis 11.9
21 colorectal cancer 10.5
22 autosomal recessive disease 10.5
23 familial colorectal cancer type x 10.3
24 lynch syndrome i 10.2
25 pilomatrixoma 10.2
26 medulloblastoma 10.2
27 familial adenomatous polyposis 1 10.2
28 colorectal cancer, hereditary nonpolyposis, type 2 10.2
29 colorectal cancer, hereditary nonpolyposis, type 8 10.2
30 colorectal cancer, hereditary nonpolyposis, type 4 10.2
31 colorectal cancer, hereditary nonpolyposis, type 7 10.2
32 hereditary hemorrhagic telangiectasia 10.2
33 telangiectasis 10.2
34 brain cancer 10.2
35 skin benign neoplasm 10.2
36 immature teratoma of ovary 10.1 KRAS GGT1
37 signet ring basal cell carcinoma 10.1 KRAS HRAS
38 trachea carcinoma in situ 10.1 KRAS HRAS
39 cobblestone retinal degeneration 10.1 KRAS HRAS
40 nasal cavity adenocarcinoma 10.1 KRAS HRAS
41 descending colon cancer 10.1 KRAS HRAS
42 adenosquamous lung carcinoma 10.1 KRAS HRAS
43 acneiform dermatitis 10.1 KRAS HRAS
44 transverse colon cancer 10.1 KRAS HRAS
45 appendiceal neoplasm 10.1 KRAS HRAS
46 gallbladder benign neoplasm 10.1 KRAS HRAS
47 appendix adenocarcinoma 10.1 KRAS HRAS
48 mucinous lung adenocarcinoma 10.1 KRAS HRAS
49 wolffian duct adenocarcinoma 10.1 KRAS HRAS
50 biliary tract benign neoplasm 10.0 KRAS HRAS

Graphical network of the top 20 diseases related to Myh-Associated Polyposis:



Diseases related to Myh-Associated Polyposis

Symptoms & Phenotypes for Myh-Associated Polyposis

MGI Mouse Phenotypes related to Myh-Associated Polyposis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.76 APC GGT1 HRAS KRAS MSH2 MUTYH
2 neoplasm MP:0002006 9.35 APC HRAS KRAS MSH2 MUTYH
3 renal/urinary system MP:0005367 9.02 APC GGT1 HRAS KRAS MYH1

Drugs & Therapeutics for Myh-Associated Polyposis

Search Clinical Trials , NIH Clinical Center for Myh-Associated Polyposis

Genetic Tests for Myh-Associated Polyposis

Genetic tests related to Myh-Associated Polyposis:

# Genetic test Affiliating Genes
1 Myh-Associated Polyposis 29 MUTYH

Anatomical Context for Myh-Associated Polyposis

MalaCards organs/tissues related to Myh-Associated Polyposis:

40
Colon, Testes, Breast

Publications for Myh-Associated Polyposis

Articles related to Myh-Associated Polyposis:

(show top 50) (show all 74)
# Title Authors PMID Year
1
Video Vignette: Laparoscopic pan-proctocolectomy with intersphincteric dissection and transanal TME for a mid-rectal cancer and MYH-associated polyposis. 61
32531103 2020
2
c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis. 61
31739127 2020
3
Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy. 61
30564557 2018
4
Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series. 61
28283864 2017
5
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer. 61
28551381 2017
6
Adenomatous Polyposis Syndromes: Diagnosis and Management. 61
31777463 2016
7
The "Studded" Rectum: Phenotypic Evidence of MYH-Associated Polyposis. 61
27145315 2016
8
Cap-assisted endoscopic mucosal resection of large nonampullary duodenal polyps in MYH-associated polyposis syndrome. 61
26551731 2016
9
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients. 61
24953332 2014
10
MYH polyposis syndrome: clinical findings, genetics issues and management. 61
24643704 2014
11
Managing young colorectal cancer: a UK and Irish perspective. 61
24510247 2014
12
Results from an American Society of Colon and Rectal Surgeons survey on the management of young-onset colorectal cancer. 61
23893218 2014
13
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 61
24310308 2014
14
Mammalian MutY homolog (MYH or MUTYH) protects cells from oxidative DNA damage. 61
24315136 2014
15
Recurrent testicular germ cell tumors in a family with MYH-associated polyposis. 61
22711856 2012
16
The first mutations in the MYH gene reported in Moroccan colon cancer patients. 61
22266422 2012
17
General aspects of colorectal cancer. 61
23209942 2012
18
Inherited colorectal cancer syndromes. 61
22157284 2011
19
Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil. 61
21424714 2011
20
Lynch syndrome and MYH-associated polyposis: review and testing strategy. 61
21325953 2011
21
Prevalence of MYH-associated polyposis related to three recurrent mutations in Morocco. 61
20939750 2011
22
Map syndrome (MYH Associated Polyposis) colorectal cancer, etiopathological connections. 61
21505584 2011
23
MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions. 61
20640893 2010
24
[Differential diagnostics of hereditary colorectal cancer syndromes. The role of pathology]. 61
20960194 2010
25
A structural hinge in eukaryotic MutY homologues mediates catalytic activity and Rad9-Rad1-Hus1 checkpoint complex interactions. 61
20816984 2010
26
Identifying mutations for MYH-associated polyposis. 61
20063264 2010
27
Inherited colorectal cancer syndromes. 61
21037810 2009
28
[Cancer genetics: estimation of the needs of the population in France for the next ten years]. 61
19751997 2009
29
APC, MYH, and the correlation genotype-phenotype in colorectal polyposis. 61
19169759 2009
30
Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case. 61
19404084 2009
31
MUTYH exon 7 and 13 mutations associated with colorectal cancer (MAP syndrome) are not commonly associated with sporadic pancreatic cancer. 61
20110747 2009
32
Familial adenomatous polyposis. 61
19414146 2009
33
Hereditary colorectal cancer: MYH-associated polyposis and other newly identified disorders. 61
19258188 2009
34
Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. 61
19013464 2008
35
MYH-associated polyposis: adenomas and hyperplastic polyps, partners in crime? 61
19000687 2008
36
MYH-associated polyposis--a new familial colorectal cancer syndrome without a family history. 61
19098972 2008
37
[Hereditary colorectal cancer]. 61
18853126 2008
38
Colonic adenomatous polyposis syndromes: clinical management. 61
20011436 2008
39
The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle. 61
18495334 2008
40
Pathological features of colorectal carcinomas in MYH-associated polyposis. 61
18564191 2008
41
Sebaceous adenomas in an MYH associated polyposis patient of Indian (Gujarati) origin. 61
17874208 2008
42
Colorectal polyposes: from phenotype to diagnosis. 61
18541388 2008
43
Recently identified colon cancer predispositions: MYH and MSH6 mutations. 61
17920897 2007
44
Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas. 61
17703316 2007
45
Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients. 61
17524638 2007
46
Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations. 61
17505512 2007
47
BRAF mutations in multiple sebaceous hyperplasias of patients belonging to MYH-associated polyposis pedigrees. 61
17273161 2007
48
[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation]. 61
17868535 2007
49
Colonic polyps in children and adolescents. 61
17431512 2007
50
Hereditary colorectal cancer syndromes: an overview. 61
17311698 2007

Variations for Myh-Associated Polyposis

ClinVar genetic disease variations for Myh-Associated Polyposis:

6 (show top 50) (show all 824) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MUTYH NM_001350650.1(MUTYH):c.33+119_33+132dupduplication Pathogenic 406838 rs1553129652 1:45798824-45798825 1:45333152-45333153
2 MUTYH NM_001128425.1(MUTYH):c.586G>T (p.Glu196Ter)SNV Pathogenic 406822 rs745921592 1:45798350-45798350 1:45332678-45332678
3 MUTYH NM_001128425.1(MUTYH):c.1267G>T (p.Glu423Ter)SNV Pathogenic 406823 rs1060501321 1:45797148-45797148 1:45331476-45331476
4 MUTYH NM_001128425.1(MUTYH):c.1240C>T (p.Gln414Ter)SNV Pathogenic 406824 rs766420907 1:45797175-45797175 1:45331503-45331503
5 MUTYH NM_001128425.1(MUTYH):c.1281G>A (p.Trp427Ter)SNV Pathogenic 406830 rs1060501325 1:45797134-45797134 1:45331462-45331462
6 MUTYH NM_001293192.1(MUTYH):c.-153deldeletion Pathogenic 406847 rs1060501336 1:45800118-45800118 1:45334446-45334446
7 MUTYH NM_012222.2(MUTYH):c.707_712delinsCAGCTGCT (p.Val236fs)indel Pathogenic 418342 rs1064793197 1:45798130-45798135 1:45332458-45332463
8 MUTYH NC_000001.11:g.(?_45329306)_(45333324_?)deldeletion Pathogenic 437842 1:45794978-45798996 1:45329306-45333324
9 MUTYH NM_012222.2(MUTYH):c.1347del (p.Tyr450fs)deletion Pathogenic 464690 rs1553125243 1:45796974-45796974 1:45331302-45331302
10 MUTYH NM_001128425.1(MUTYH):c.37-1317_667deldeletion Pathogenic 464717 1:45798269-45801500 1:45332597-45335828
11 MUTYH NM_001350650.1(MUTYH):c.33+147deldeletion Pathogenic 464719 rs1553129638 1:45798810-45798810 1:45333138-45333138
12 MUTYH NM_001128425.1(MUTYH):c.308G>A (p.Trp103Ter)SNV Pathogenic 485909 rs1553130185 1:45799125-45799125 1:45333453-45333453
13 MUTYH NC_000001.11:g.(?_45332568)_(45334517_?)deldeletion Pathogenic 533332 1:45798240-45800189 1:45332568-45334517
14 MUTYH NC_000001.11:g.(?_45329300)_(45333609_?)deldeletion Pathogenic 533333 1:45794972-45799281 1:45329300-45333609
15 MUTYH NM_012222.2(MUTYH):c.1015_1037del (p.Cys339fs)deletion Pathogenic 533319 rs1553126848 1:45797473-45797495 1:45331801-45331823
16 MUTYH NM_012222.2(MUTYH):c.800delinsAG (p.Val267fs)indel Pathogenic 533305 rs1553127825 1:45797962-45797962 1:45332290-45332290
17 MUTYH NM_012222.2(MUTYH):c.1271_1280del (p.Trp424fs)deletion Pathogenic 533306 rs1553125677 1:45797126-45797135 1:45331454-45331463
18 MUTYH NM_001128425.1(MUTYH):c.971C>A (p.Ser324Ter)SNV Pathogenic 569689 rs558173961 1:45797721-45797721 1:45332049-45332049
19 MUTYH NM_001128425.1(MUTYH):c.789G>A (p.Trp263Ter)SNV Pathogenic 565890 rs1338038953 1:45797982-45797982 1:45332310-45332310
20 MUTYH NM_001128425.1(MUTYH):c.178G>T (p.Glu60Ter)SNV Pathogenic 582666 rs1557487793 1:45799255-45799255 1:45333583-45333583
21 MUTYH NM_012222.2(MUTYH):c.1501_1508delinsCCAACAGCCCA (p.Thr501_Met503delinsProThrAlaGln)indel Pathogenic 587356 rs1557451154 1:45796189-45796196 1:45330517-45330524
22 MUTYH NM_001128425.1(MUTYH):c.1264C>T (p.Gln422Ter)SNV Pathogenic 654529 1:45797151-45797151 1:45331479-45331479
23 MUTYH NM_001048174.2(MUTYH):c.1134del (p.Ser378_Val379insTer)deletion Pathogenic 663501 1:45797197-45797197 1:45331525-45331525
24 MUTYH NM_001128425.1(MUTYH):c.788G>A (p.Trp263Ter)SNV Pathogenic 641274 1:45798063-45798063 1:45332391-45332391
25 MUTYH NM_012222.2(MUTYH):c.624_651del (p.Leu209fs)deletion Pathogenic 662131 1:45798276-45798303 1:45332604-45332631
26 MUTYH NM_001048174.2(MUTYH):c.192dup (p.Val65fs)duplication Pathogenic 657663 1:45799156-45799157 1:45333484-45333485
27 MUTYH NM_001128425.1(MUTYH):c.43A>G (p.Met15Val)SNV Pathogenic 641313 1:45800177-45800177 1:45334505-45334505
28 MUTYH NC_000001.11:g.(?_45329296)_(45333334_?)deldeletion Pathogenic 639376 1:45794968-45799006 1:45329296-45333334
29 MUTYH NM_001128425.1(MUTYH):c.37-95_84delinsCindel Pathogenic 648550 1:45800136-45800278 1:45334464-45334606
30 MUTYH NC_000001.11:g.(?_45329306)_(45333334_?)deldeletion Pathogenic 832371 1:45794978-45799006
31 MUTYH NM_001048174.2(MUTYH):c.168C>A (p.Tyr56Ter)SNV Pathogenic 859310 1:45799181-45799181 1:45333509-45333509
32 MUTYH NM_001048174.2(MUTYH):c.90_93del (p.Ser30fs)deletion Pathogenic 854670 1:45800085-45800088 1:45334413-45334416
33 MUTYH NM_012222.2(MUTYH):c.1452del (p.Thr485fs)deletion Pathogenic 5295 rs146331482 1:45796869-45796869 1:45331197-45331197
34 MUTYH NM_001048171.1(MUTYH):c.270C>A (p.Tyr90Ter)SNV Pathogenic 5296 rs121908380 1:45799121-45799121 1:45333449-45333449
35 MUTYH NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)SNV Pathogenic 5297 rs121908381 1:45796892-45796892 1:45331220-45331220
36 MUTYH MUTYH, 2-BP INS, 1186GGinsertion Pathogenic 5300
37 MUTYH NM_001128425.1(MUTYH):c.348+33_*210delinsTAindel Pathogenic 30441 1:45794768-45799052 1:45329096-45333380
38 MUTYH NM_001128425.1(MUTYH):c.1418C>A (p.Ala473Asp)SNV Pathogenic 41041 rs200844166 1:45796912-45796912 1:45331240-45331240
39 MUTYH NM_001048171.1(MUTYH):c.970C>T (p.Gln324Ter)SNV Pathogenic 127835 rs587780082 1:45797507-45797507 1:45331835-45331835
40 MUTYH NM_001048173.1(MUTYH):c.1350_1352GGA[1] (p.Glu452del)short repeat Pathogenic 127838 rs587778541 1:45796891-45796893 1:45331219-45331221
41 MUTYH NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter)SNV Pathogenic 127845 rs587780088 1:45800165-45800165 1:45334493-45334493
42 MUTYH NM_001128425.1(MUTYH):c.940C>T (p.Gln314Ter)SNV Pathogenic 140876 rs587781338 1:45797752-45797752 1:45332080-45332080
43 MUTYH NM_001048171.1(MUTYH):c.247C>T (p.Arg83Ter)SNV Pathogenic 140827 rs138775799 1:45799144-45799144 1:45333472-45333472
44 MUTYH NM_001293192.1(MUTYH):c.-164deldeletion Pathogenic 141379 rs587781704 1:45800129-45800129 1:45334457-45334457
45 MUTYH NM_001048171.1(MUTYH):c.1172C>T (p.Pro391Leu)SNV Pathogenic 142604 rs529008617 1:45797201-45797201 1:45331529-45331529
46 MUTYH NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter)SNV Pathogenic 143003 rs587782885 1:45798112-45798112 1:45332440-45332440
47 MUTYH NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)SNV Pathogenic 156509 rs587783057 1:45797348-45797348 1:45331676-45331676
48 MUTYH NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)SNV Pathogenic 182689 rs143353451 1:45798466-45798466 1:45332794-45332794
49 MUTYH NM_001128425.1(MUTYH):c.799C>T (p.Gln267Ter)SNV Pathogenic 186651 rs786203115 1:45797972-45797972 1:45332300-45332300
50 MUTYH NM_001128425.1(MUTYH):c.1474A>T (p.Lys492Ter)SNV Pathogenic 216081 rs863224502 1:45796856-45796856 1:45331184-45331184

Expression for Myh-Associated Polyposis

Search GEO for disease gene expression data for Myh-Associated Polyposis.

Pathways for Myh-Associated Polyposis

Pathways related to Myh-Associated Polyposis according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 MSH2 KRAS HRAS APC
2 12.43 MSH2 KRAS HRAS APC
3 12.27 KRAS HRAS APC
4
Show member pathways
12.23 KRAS HRAS APC
5 11.85 MSH2 KRAS APC
6 11.7 KRAS HRAS APC
7 11.52 KRAS HRAS APC
8 11.39 KRAS HRAS APC
9 11.29 KRAS HRAS
10
Show member pathways
11.23 MSH2 GGT1
11 11.21 KRAS HRAS
12 11.18 KRAS HRAS APC
13 11.15 KRAS HRAS
14 11.08 KRAS HRAS
15 11.02 KRAS HRAS
16
Show member pathways
11 KRAS HRAS
17
Show member pathways
10.94 KRAS HRAS
18 10.87 KRAS HRAS
19 10.84 KRAS HRAS
20 10.78 KRAS HRAS
21 10.44 KRAS HRAS
22 10.28 KRAS HRAS APC

GO Terms for Myh-Associated Polyposis

Biological processes related to Myh-Associated Polyposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.33 MSH2 KRAS HRAS
2 mismatch repair GO:0006298 9.32 MUTYH MSH2
3 regulation of long-term neuronal synaptic plasticity GO:0048169 9.26 KRAS HRAS
4 cell cycle arrest GO:0007050 9.13 MSH2 HRAS APC
5 response to isolation stress GO:0035900 8.62 KRAS HRAS

Molecular functions related to Myh-Associated Polyposis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MutLalpha complex binding GO:0032405 8.96 MUTYH MSH2
2 oxidized purine DNA binding GO:0032357 8.62 MUTYH MSH2

Sources for Myh-Associated Polyposis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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