ARVD5
MCID: ARR018
MIFTS: 43

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 (ARVD5)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

Name: Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 57 75 73
Arrhythmogenic Right Ventricular Dysplasia 5 57 12 13 15
Arrhythmogenic Right Ventricular Cardiomyopathy 5 57 12 75
Arvd5 57 12 75
Arvc5 57 12 75
Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 29 6
Arrhythmogenic Right Ventricular Cardiomyopathy 5; Arvc5 57
Familial Arrhythmogenic Right Ventricular Dysplasia 5 12
Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
sudden cardiac death frequent in affected families
male patients have more severe disease than female patients


HPO:

32
arrhythmogenic right ventricular dysplasia, familial, 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604400
Disease Ontology 12 DOID:0110074
ICD10 33 I42.8
MedGen 42 C1858379
MeSH 44 D019571
UMLS 73 C1858379

Summaries for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

UniProtKB/Swiss-Prot : 75 Arrhythmogenic right ventricular dysplasia, familial, 5: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

MalaCards based summary : Arrhythmogenic Right Ventricular Dysplasia, Familial, 5, also known as arrhythmogenic right ventricular dysplasia 5, is related to arrhythmogenic right ventricular cardiomyopathy and skeletal muscle cancer. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 is TMEM43 (Transmembrane Protein 43), and among its related pathways/superpathways are Developmental Biology and Neuroscience. Affiliated tissues include heart, skin and skeletal muscle, and related phenotypes are sudden cardiac death and dyskinesia

Disease Ontology : 12 An arrhythmogenic right ventricular dysplasia that has material basis in heterozygous mutation in the TMEM43 gene on chromosome 3p25.

Description from OMIM: 604400

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Diseases in the Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 family:

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13

Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular cardiomyopathy 29.6 CDH2 PPARG SCN5A TMEM43
2 skeletal muscle cancer 10.0 MEF2A MEF2C
3 intrinsic cardiomyopathy 10.0 SCN5A TMEM43
4 familial progressive cardiac conduction defect 10.0 NKX2-5 SCN5A
5 ventricular fibrillation, paroxysmal familial, 1 10.0 NKX2-5 SCN5A
6 atrioventricular block 10.0 NKX2-5 SCN5A
7 double outlet right ventricle 9.9 MEF2C NKX2-5
8 heart septal defect 9.9 MEF2A MEF2C NKX2-5
9 muscular dystrophy, congenital, lmna-related 9.9 MEF2A MEF2C
10 left ventricular noncompaction 9.9 NKX2-5 SCN5A XIRP1
11 hypoplastic left heart syndrome 9.8 CDH2 NKX2-5
12 dilated cardiomyopathy 9.4 CDH2 MEF2A NKX2-5 SCN5A TMEM43
13 cardiomyopathy, dilated, 1e 9.3 CDH2 MEF2A MEF2C NKX2-5 SCN5A XIRP1

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:



Diseases related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Symptoms & Phenotypes for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
palpitations
premature ventricular contractions
bigeminy
left ventricular enlargement
presyncope or syncope
more

Clinical features from OMIM:

604400

Human phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 HP:0001645
2 dyskinesia 32 HP:0100660
3 congestive heart failure 32 HP:0001635
4 chest pain 32 HP:0100749
5 ventricular tachycardia 32 HP:0004756
6 ventricular extrasystoles 32 HP:0006682
7 palpitations 32 HP:0001962
8 right ventricular cardiomyopathy 32 HP:0011663
9 prolonged qrs complex 32 HP:0006677
10 presyncope 32 HP:0031972

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.91 CDH2 MEF2A MEF2C NKX2-5 PPARG SCN5A
2 growth/size/body region MP:0005378 9.86 CA2 CDH2 MEF2A MEF2C NKX2-5 PPARG
3 embryo MP:0005380 9.72 CDH2 MEF2C NKX2-5 PPARG SCN5A
4 mortality/aging MP:0010768 9.7 CA2 CDH2 MEF2A MEF2C NKX2-5 PPARG
5 muscle MP:0005369 9.5 CDH2 MEF2A MEF2C NKX2-5 PPARG SCN5A
6 nervous system MP:0003631 9.17 CA2 CDH2 MEF2A MEF2C NKX2-5 PPARG

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Search Clinical Trials , NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 5 29 TMEM43

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

41
Heart, Skin, Skeletal Muscle

Publications for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Articles related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

# Title Authors Year
1
Failure of ICD therapy in lethal arrhythmogenic right ventricular cardiomyopathy type 5 caused by the TMEM43 p.Ser358Leu mutation. ( 28491673 )
2016
2
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. ( 18313022 )
2008

Variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

UniProtKB/Swiss-Prot genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

75
# Symbol AA change Variation ID SNP ID
1 TMEM43 p.Ser358Leu VAR_044438 rs63750743

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5:

6 (show top 50) (show all 198)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh37 Chromosome 3, 14183165: 14183165
2 TMEM43 NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs63750743 GRCh38 Chromosome 3, 14141665: 14141665
3 TMEM43 NM_024334.2(TMEM43): c.1150C> G (p.Leu384Val) single nucleotide variant Conflicting interpretations of pathogenicity rs193922706 GRCh37 Chromosome 3, 14183242: 14183242
4 TMEM43 NM_024334.2(TMEM43): c.1150C> G (p.Leu384Val) single nucleotide variant Conflicting interpretations of pathogenicity rs193922706 GRCh38 Chromosome 3, 14141742: 14141742
5 TMEM43 NM_024334.2(TMEM43): c.797G> A (p.Arg266Gln) single nucleotide variant Uncertain significance rs193922707 GRCh37 Chromosome 3, 14177323: 14177323
6 TMEM43 NM_024334.2(TMEM43): c.797G> A (p.Arg266Gln) single nucleotide variant Uncertain significance rs193922707 GRCh38 Chromosome 3, 14135823: 14135823
7 TMEM43 NM_024334.2(TMEM43): c.934C> T (p.Arg312Trp) single nucleotide variant Benign/Likely benign rs113449357 GRCh37 Chromosome 3, 14180731: 14180731
8 TMEM43 NM_024334.2(TMEM43): c.934C> T (p.Arg312Trp) single nucleotide variant Benign/Likely benign rs113449357 GRCh38 Chromosome 3, 14139231: 14139231
9 TMEM43 NM_024334.2(TMEM43): c.271A> G (p.Ile91Val) single nucleotide variant Uncertain significance rs144811578 GRCh37 Chromosome 3, 14172430: 14172430
10 TMEM43 NM_024334.2(TMEM43): c.271A> G (p.Ile91Val) single nucleotide variant Uncertain significance rs144811578 GRCh38 Chromosome 3, 14130930: 14130930
11 TMEM43 NM_024334.2(TMEM43): c.1096G> A (p.Ala366Thr) single nucleotide variant Benign rs36083134 GRCh37 Chromosome 3, 14183188: 14183188
12 TMEM43 NM_024334.2(TMEM43): c.1096G> A (p.Ala366Thr) single nucleotide variant Benign rs36083134 GRCh38 Chromosome 3, 14141688: 14141688
13 TMEM43 NM_024334.2(TMEM43): c.1105C> T (p.Leu369Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs144152046 GRCh37 Chromosome 3, 14183197: 14183197
14 TMEM43 NM_024334.2(TMEM43): c.1105C> T (p.Leu369Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs144152046 GRCh38 Chromosome 3, 14141697: 14141697
15 TMEM43 NM_024334.2(TMEM43): c.1111T> C (p.Tyr371His) single nucleotide variant Conflicting interpretations of pathogenicity rs116911972 GRCh37 Chromosome 3, 14183203: 14183203
16 TMEM43 NM_024334.2(TMEM43): c.1111T> C (p.Tyr371His) single nucleotide variant Conflicting interpretations of pathogenicity rs116911972 GRCh38 Chromosome 3, 14141703: 14141703
17 TMEM43 NM_024334.2(TMEM43): c.222C> T (p.Pro74=) single nucleotide variant Conflicting interpretations of pathogenicity rs34099410 GRCh37 Chromosome 3, 14172381: 14172381
18 TMEM43 NM_024334.2(TMEM43): c.222C> T (p.Pro74=) single nucleotide variant Conflicting interpretations of pathogenicity rs34099410 GRCh38 Chromosome 3, 14130881: 14130881
19 TMEM43 NM_024334.2(TMEM43): c.361A> G (p.Met121Val) single nucleotide variant Uncertain significance rs369878538 GRCh37 Chromosome 3, 14173143: 14173143
20 TMEM43 NM_024334.2(TMEM43): c.361A> G (p.Met121Val) single nucleotide variant Uncertain significance rs369878538 GRCh38 Chromosome 3, 14131643: 14131643
21 TMEM43 NM_024334.2(TMEM43): c.424G> A (p.Glu142Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145619906 GRCh37 Chromosome 3, 14174077: 14174077
22 TMEM43 NM_024334.2(TMEM43): c.424G> A (p.Glu142Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145619906 GRCh38 Chromosome 3, 14132577: 14132577
23 TMEM43 NM_024334.2(TMEM43): c.705+7G> A single nucleotide variant Benign/Likely benign rs201916031 GRCh37 Chromosome 3, 14176398: 14176398
24 TMEM43 NM_024334.2(TMEM43): c.705+7G> A single nucleotide variant Benign/Likely benign rs201916031 GRCh38 Chromosome 3, 14134898: 14134898
25 TMEM43 NM_024334.2(TMEM43): c.82C> T (p.Arg28Trp) single nucleotide variant Benign/Likely benign rs35028636 GRCh37 Chromosome 3, 14170981: 14170981
26 TMEM43 NM_024334.2(TMEM43): c.82C> T (p.Arg28Trp) single nucleotide variant Benign/Likely benign rs35028636 GRCh38 Chromosome 3, 14129481: 14129481
27 TMEM43 NM_024334.2(TMEM43): c.909C> T (p.Ser303=) single nucleotide variant Benign/Likely benign rs35100587 GRCh37 Chromosome 3, 14180706: 14180706
28 TMEM43 NM_024334.2(TMEM43): c.909C> T (p.Ser303=) single nucleotide variant Benign/Likely benign rs35100587 GRCh38 Chromosome 3, 14139206: 14139206
29 TMEM43 NM_024334.2(TMEM43): c.947G> C (p.Trp316Ser) single nucleotide variant Uncertain significance rs199526104 GRCh37 Chromosome 3, 14180744: 14180744
30 TMEM43 NM_024334.2(TMEM43): c.947G> C (p.Trp316Ser) single nucleotide variant Uncertain significance rs199526104 GRCh38 Chromosome 3, 14139244: 14139244
31 TMEM43 NM_024334.2(TMEM43): c.953C> T (p.Ala318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs11924644 GRCh37 Chromosome 3, 14180750: 14180750
32 TMEM43 NM_024334.2(TMEM43): c.953C> T (p.Ala318Val) single nucleotide variant Conflicting interpretations of pathogenicity rs11924644 GRCh38 Chromosome 3, 14139250: 14139250
33 TMEM43 NM_024334.2(TMEM43): c.169G> A (p.Ala57Thr) single nucleotide variant Uncertain significance rs151010429 GRCh37 Chromosome 3, 14172328: 14172328
34 TMEM43 NM_024334.2(TMEM43): c.169G> A (p.Ala57Thr) single nucleotide variant Uncertain significance rs151010429 GRCh38 Chromosome 3, 14130828: 14130828
35 TMEM43 NM_024334.2(TMEM43): c.45C> A (p.Val15=) single nucleotide variant Benign/Likely benign rs150334659 GRCh38 Chromosome 3, 14129444: 14129444
36 TMEM43 NM_024334.2(TMEM43): c.45C> A (p.Val15=) single nucleotide variant Benign/Likely benign rs150334659 GRCh37 Chromosome 3, 14170944: 14170944
37 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh38 Chromosome 3, 14130819: 14130819
38 TMEM43 NM_024334.2(TMEM43): c.163-3delC deletion Conflicting interpretations of pathogenicity rs371706980 GRCh37 Chromosome 3, 14172319: 14172319
39 TMEM43 NM_024334.2(TMEM43): c.442+7G> A single nucleotide variant Likely benign rs373590238 GRCh38 Chromosome 3, 14132602: 14132602
40 TMEM43 NM_024334.2(TMEM43): c.442+7G> A single nucleotide variant Likely benign rs373590238 GRCh37 Chromosome 3, 14174102: 14174102
41 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh38 Chromosome 3, 14134884: 14134884
42 TMEM43 NM_024334.2(TMEM43): c.698A> G (p.Tyr233Cys) single nucleotide variant Benign/Likely benign rs35924492 GRCh37 Chromosome 3, 14176384: 14176384
43 TMEM43 NM_024334.2(TMEM43): c.1095G> A (p.Ala365=) single nucleotide variant Likely benign rs141675061 GRCh37 Chromosome 3, 14183187: 14183187
44 TMEM43 NM_024334.2(TMEM43): c.1095G> A (p.Ala365=) single nucleotide variant Likely benign rs141675061 GRCh38 Chromosome 3, 14141687: 14141687
45 TMEM43 NM_024334.2(TMEM43): c.280G> A (p.Ala94Thr) single nucleotide variant Uncertain significance rs369142200 GRCh38 Chromosome 3, 14130939: 14130939
46 TMEM43 NM_024334.2(TMEM43): c.280G> A (p.Ala94Thr) single nucleotide variant Uncertain significance rs369142200 GRCh37 Chromosome 3, 14172439: 14172439
47 TMEM43 NM_024334.2(TMEM43): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs544554435 GRCh38 Chromosome 3, 14132581: 14132581
48 TMEM43 NM_024334.2(TMEM43): c.428C> T (p.Thr143Met) single nucleotide variant Uncertain significance rs544554435 GRCh37 Chromosome 3, 14174081: 14174081
49 TMEM43 NM_024334.2(TMEM43): c.484G> A (p.Asp162Asn) single nucleotide variant Uncertain significance rs150425166 GRCh38 Chromosome 3, 14132907: 14132907
50 TMEM43 NM_024334.2(TMEM43): c.484G> A (p.Asp162Asn) single nucleotide variant Uncertain significance rs150425166 GRCh37 Chromosome 3, 14174407: 14174407

Expression for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5.

Pathways for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

GO Terms for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Cellular components related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 8.62 CDH2 SCN5A

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.91 MEF2A MEF2C NKX2-5 PPARG
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.87 MEF2A MEF2C NKX2-5 PPARG
3 positive regulation of transcription, DNA-templated GO:0045893 9.8 MEF2A MEF2C NKX2-5 PPARG
4 transcription, DNA-templated GO:0006351 9.71 MEF2A MEF2C PPARG
5 response to estrogen GO:0043627 9.62 CA2 PPARG
6 cell fate commitment GO:0045165 9.61 MEF2C PPARG
7 heart looping GO:0001947 9.6 MEF2C NKX2-5
8 odontogenesis of dentin-containing tooth GO:0042475 9.59 CA2 SCN5A
9 outflow tract morphogenesis GO:0003151 9.58 MEF2C NKX2-5
10 cardiac muscle contraction GO:0060048 9.58 NKX2-5 SCN5A
11 negative regulation of blood vessel endothelial cell migration GO:0043537 9.56 MEF2C PPARG
12 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.55 MEF2C PPARG
13 telencephalon development GO:0021537 9.52 CDH2 SCN5A
14 regulation of synaptic transmission, glutamatergic GO:0051966 9.51 CDH2 MEF2C
15 cellular response to calcium ion GO:0071277 9.5 MEF2A MEF2C SCN5A
16 negative regulation of vascular endothelial cell proliferation GO:1905563 9.48 MEF2C PPARG
17 cardiac muscle cell differentiation GO:0055007 9.46 MEF2C NKX2-5
18 monocyte differentiation GO:0030224 9.43 MEF2C PPARG
19 positive regulation of sodium ion transport GO:0010765 9.4 NKX2-5 SCN5A
20 cellular response to fluid shear stress GO:0071498 9.37 CA2 MEF2C
21 cardiac ventricle formation GO:0003211 9.26 MEF2C NKX2-5
22 ventricular cardiac myofibril assembly GO:0055005 9.16 MEF2A NKX2-5
23 positive regulation of muscle cell differentiation GO:0051149 9.13 CDH2 MEF2A MEF2C
24 heart development GO:0007507 9.02 MEF2A MEF2C NKX2-5 PPARG XIRP1

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.8 MEF2A MEF2C NKX2-5 PPARG
2 enzyme binding GO:0019899 9.7 CDH2 PPARG SCN5A
3 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.63 MEF2A MEF2C NKX2-5
4 sequence-specific DNA binding GO:0043565 9.62 MEF2A MEF2C NKX2-5 PPARG
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.61 MEF2A MEF2C PPARG
6 protein heterodimerization activity GO:0046982 9.56 MEF2A MEF2C NKX2-5 PPARG
7 transcription regulatory region DNA binding GO:0044212 9.54 MEF2C NKX2-5 PPARG
8 protein self-association GO:0043621 9.51 PPARG TMEM43
9 chromatin binding GO:0003682 9.46 MEF2A MEF2C NKX2-5 PPARG
10 distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001205 9.4 MEF2A MEF2C
11 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.13 MEF2A MEF2C NKX2-5
12 activating transcription factor binding GO:0033613 8.8 MEF2A MEF2C PPARG
13 protein binding GO:0005515 10.13 CA2 CDH2 MEF2A MEF2C NKX2-5 PPARG

Sources for Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

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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