MCID: 46X012
MIFTS: 37

46,xy Partial Gonadal Dysgenesis

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Partial Gonadal Dysgenesis

MalaCards integrated aliases for 46,xy Partial Gonadal Dysgenesis:

Name: 46,xy Partial Gonadal Dysgenesis 58
46,xy Partial Testicular Dysgenesis 58
46,xy Pgd 58

Characteristics:

Orphanet epidemiological data:

58
46,xy partial gonadal dysgenesis
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive,Y-linked; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for 46,xy Partial Gonadal Dysgenesis

MalaCards based summary : 46,xy Partial Gonadal Dysgenesis, also known as 46,xy partial testicular dysgenesis, is related to anorchia and 46,xy sex reversal 1. An important gene associated with 46,xy Partial Gonadal Dysgenesis is GATA4 (GATA Binding Protein 4), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers and Deactivation of the beta-catenin transactivating complex. Affiliated tissues include testis, heart and ovary, and related phenotypes are osteoporosis and primary amenorrhea

Related Diseases for 46,xy Partial Gonadal Dysgenesis

Diseases related to 46,xy Partial Gonadal Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 anorchia 30.6 SRY NR5A1
2 46,xy sex reversal 1 30.6 SRY SOX9
3 mixed gonadal dysgenesis 30.0 SRY SOX9 NR5A1 DHH
4 hypospadias 29.6 WT1 SRY SOX9 NR5A1 GATA4
5 46,xy sex reversal 2 29.4 WT1 SOX9 NR5A1 NR0B1
6 nonsyndromic disorders of testicular development 29.4 SRY NR5A1 NR0B1 MAP3K1 DHH
7 disorders of sexual development 29.1 WT1 SOX9 NR5A1 NR0B1 DHH
8 gonadal dysgenesis 28.6 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
9 cryptorchidism, unilateral or bilateral 28.3 ZFPM2 WT1 SOX9 NR5A1 NR0B1 GATA4
10 46,xy sex reversal 27.0 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
11 46,xy sex reversal 7 10.3
12 46,xy sex reversal 3 10.3 NR5A1 GATA4
13 46,xy sex reversal 4 10.2
14 chromosome 9p deletion syndrome 10.2
15 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 10.2
16 male infertility 10.2
17 polyneuropathy 10.2
18 amenorrhea 10.2
19 azoospermia 10.2
20 endometriosis 10.2
21 turner syndrome 10.2
22 neuropathy 10.2
23 learning disability 10.2
24 partial deletion of y 10.2
25 posterior hypospadias 10.2
26 testicular thecoma 10.2 ZFPM2 GATA4
27 tricuspid atresia 10.1 ZFPM2 GATA4
28 microcystic stromal tumor 10.1 WT1 NR5A1
29 diaphragm disease 10.1 ZFPM2 GATA4
30 ovarian sex-cord stromal tumor 10.1 WT1 NR5A1
31 spermatogenic failure 8 10.1 NR5A1 DMRT3
32 ebstein anomaly 10.0 ZFPM2 GATA4
33 pancreatic agenesis 10.0 SOX9 GATA4
34 corticosterone methyloxidase type i deficiency 10.0 NR5A1 NR0B1
35 steroid inherited metabolic disorder 10.0 NR5A1 NR0B1
36 sex cord-gonadal stromal tumor 10.0 WT1 NR5A1
37 campomelic dysplasia 10.0 SRY SOX9 NR5A1
38 adrenal cortical hypofunction 10.0 NR5A1 NR0B1
39 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies 10.0 NR5A1 NR0B1
40 adrenal hypoplasia, congenital 9.9 NR5A1 NR0B1
41 denys-drash syndrome 9.9 WT1 NR5A1
42 glycerol kinase deficiency 9.9 NR5A1 NR0B1
43 sertoli cell tumor 9.9 WT1 NR5A1
44 45,x/46,xy mixed gonadal dysgenesis 9.8 SRY NR0B1 DHH
45 diaphragmatic hernia, congenital 9.8 ZFPM2 WT1 GATA4
46 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 9.7 WT1 NR5A1 DMRT3
47 adrenal cortex disease 9.7 NR5A1 NR0B1
48 ovarian gonadoblastoma 9.6 WT1 SOX9 NR0B1
49 frasier syndrome 9.6 WT1 SRY SOX9 NR5A1
50 leydig cell tumor 9.5 NR5A1 NR0B1

Graphical network of the top 20 diseases related to 46,xy Partial Gonadal Dysgenesis:



Diseases related to 46,xy Partial Gonadal Dysgenesis

Symptoms & Phenotypes for 46,xy Partial Gonadal Dysgenesis

Human phenotypes related to 46,xy Partial Gonadal Dysgenesis:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
2 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
3 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
4 azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000027
5 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
6 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
7 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
8 ambiguous genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000062
9 urogenital sinus anomaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100779
10 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
11 gonadal dysgenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000133
12 abnormality of the scrotum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000045
13 sparse axillary hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002215
14 sparse pubic hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002225
15 male infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0003251
16 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
17 streak ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0010464
18 hypoplasia of the vagina 58 31 hallmark (90%) Very frequent (99-80%) HP:0008726
19 decreased fertility in females 58 31 hallmark (90%) Very frequent (99-80%) HP:0000868
20 abnormality of the labia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000058
21 elevated circulating follicle stimulating hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0008232
22 female external genitalia in individual with 46,xy karyotype 58 31 hallmark (90%) Very frequent (99-80%) HP:0008730
23 elevated circulating luteinizing hormone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011969
24 abnormal sex determination 58 31 hallmark (90%) Very frequent (99-80%) HP:0012244
25 vanishing testis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012870
26 clitoral hypertrophy 31 hallmark (90%) HP:0008665
27 decreased serum testosterone level 31 hallmark (90%) HP:0040171
28 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
29 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
30 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
31 adrenal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0000846
32 primary gonadal insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0008193
33 testicular gonadoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000030
34 ovarian gonadoblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000149
35 absence of secondary sex characteristics 58 31 occasional (7.5%) Occasional (29-5%) HP:0008187
36 nephrotic syndrome 58 31 very rare (1%) Very rare (<4-1%) HP:0000100
37 nephroblastoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002667
38 abnormality of cardiovascular system morphology 31 very rare (1%) HP:0030680
39 malformation of the heart and great vessels 58 Very rare (<4-1%)
40 increased circulating gonadotropin level 58 Very frequent (99-80%)
41 gonadoblastoma 58 Frequent (79-30%)
42 hypoplasia of penis 58 Very frequent (99-80%)
43 clitoromegaly 58 Very frequent (99-80%)
44 abnormality of the vagina 58 Very frequent (99-80%)
45 abnormal internal genitalia 58 Very frequent (99-80%)
46 decreased testosterone in males 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.66 NR5A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.66 WWOX
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.66 WWOX
4 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.66 MAP3K1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.66 MAP3K1 NR5A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.66 WWOX
7 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.66 WWOX
8 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.66 MAP3K1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.66 WWOX
10 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.66 NR5A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.66 NR5A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.66 WWOX
13 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.66 NR5A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.66 MAP3K1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.66 NR5A1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.66 MAP3K1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.66 WWOX
18 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.66 MAP3K1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 MAP3K1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-86 9.66 WWOX
21 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.66 MAP3K1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-102 9.56 MAP3K1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 9.56 DMRT3
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.56 DMRT3
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-23 9.56 WT1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-35 9.56 DMRT3 MAP3K1 WT1
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.56 MAP3K1

MGI Mouse Phenotypes related to 46,xy Partial Gonadal Dysgenesis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.97 GATA4 MAP3K1 NR5A1 SOX9 VAMP7 WT1
2 homeostasis/metabolism MP:0005376 9.96 DHH GATA4 MAP3K1 NR0B1 NR5A1 SOX9
3 cardiovascular system MP:0005385 9.95 GATA4 MAP3K1 NR5A1 SOX9 VAMP7 WT1
4 endocrine/exocrine gland MP:0005379 9.92 DHH GATA4 NR0B1 NR5A1 SOX9 WT1
5 nervous system MP:0003631 9.76 DHH DMRT3 GATA4 MAP3K1 NR5A1 SOX9
6 no phenotypic analysis MP:0003012 9.35 GATA4 SOX9 WT1 WWOX ZFPM2
7 reproductive system MP:0005389 9.28 DHH DMRT3 GATA4 NR0B1 NR5A1 SOX9

Drugs & Therapeutics for 46,xy Partial Gonadal Dysgenesis

Search Clinical Trials , NIH Clinical Center for 46,xy Partial Gonadal Dysgenesis

Genetic Tests for 46,xy Partial Gonadal Dysgenesis

Anatomical Context for 46,xy Partial Gonadal Dysgenesis

MalaCards organs/tissues related to 46,xy Partial Gonadal Dysgenesis:

40
Testis, Heart, Ovary

Publications for 46,xy Partial Gonadal Dysgenesis

Articles related to 46,xy Partial Gonadal Dysgenesis:

(show all 31)
# Title Authors PMID Year
1
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination. 6
24549039 2014
2
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. 6
20807224 2011
3
Loss-of-function mutation in GATA4 causes anomalies of human testicular development. 6
21220346 2011
4
Novel mutation in FTHL17 gene in pedigree with 46,XY pure gonadal dysgenesis. 61
30922653 2019
5
Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis. 61
30992672 2019
6
Incidence and diagnoses of disorders of sex development in proximal hypospadias. 61
30224237 2018
7
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis. 61
29668062 2018
8
Gonadal tumour risk in 292 phenotypic female patients with disorders of sex development containing Y chromosome or Y-derived sequence. 61
27862157 2017
9
408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing. 61
28018429 2016
10
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. 61
27463801 2016
11
Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males. 61
25580123 2014
12
Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants. 61
24192396 2013
13
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis. 61
23786321 2013
14
The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD? 61
22644991 2012
15
Dysgerminoma and gonadal dysgenesis: the need for a new diagnosis tree for suspected ovarian tumours. 61
21402494 2011
16
46,XY pure gonadal dysgenesis: clinical presentations and management of the tumor risk. 61
20153258 2011
17
Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis. 61
21340164 2010
18
[Sex of rearing in 46,XY partial gonadal dysgenesis (case report)]. 61
20097326 2010
19
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. 61
17694559 2008
20
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. 61
17644778 2007
21
Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. 61
15356051 2004
22
Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis. 61
12975780 2003
23
Management of 46, XY partial gonadal dysgenesis--revisited. 61
12422582 2002
24
Minifascicular neuropathy: a new concept of the human disease caused by desert hedgehog gene mutation. 61
11990454 2002
25
A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. 61
11017805 2000
26
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. 61
9718353 1998
27
Abnormalities of gonadal differentiation. 61
9890065 1998
28
Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis. 61
8954063 1996
29
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. 61
8710915 1996
30
Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis. 61
8496317 1993
31
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. 61
1956279 1991

Variations for 46,xy Partial Gonadal Dysgenesis

Expression for 46,xy Partial Gonadal Dysgenesis

Search GEO for disease gene expression data for 46,xy Partial Gonadal Dysgenesis.

Pathways for 46,xy Partial Gonadal Dysgenesis

Pathways related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 WT1 SOX9 GATA4
2 10.59 SRY SOX9

GO Terms for 46,xy Partial Gonadal Dysgenesis

Cellular components related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.76 ZFPM2 WWOX WT1 SRY SOX9 NR5A1
2 nuclear transcription factor complex GO:0044798 9.26 SRY SOX9
3 nuclear chromatin GO:0000790 9.17 ZFPM2 SRY SOX9 NR5A1 NR0B1 GATA4
4 RNA polymerase II transcription factor complex GO:0090575 9.13 WWOX NR5A1 GATA4

Biological processes related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.02 WT1 SRY SOX9 NR5A1 NR0B1 GATA4
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.98 ZFPM2 WWOX WT1 SRY SOX9 NR5A1
3 cell differentiation GO:0030154 9.97 ZFPM2 SRY SOX9 NR5A1 NR0B1 DMRT3
4 regulation of transcription by RNA polymerase II GO:0006357 9.96 ZFPM2 WT1 SOX9 NR5A1 DMRT3
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.93 ZFPM2 WWOX WT1 SRY SOX9 NR0B1
6 negative regulation of transcription, DNA-templated GO:0045892 9.91 ZFPM2 WT1 SOX9 NR0B1
7 positive regulation of gene expression GO:0010628 9.88 WT1 SRY SOX9 NR5A1
8 positive regulation of transcription, DNA-templated GO:0045893 9.88 ZFPM2 WT1 SRY SOX9 NR5A1 GATA4
9 heart development GO:0007507 9.8 ZFPM2 WT1 SOX9
10 transcription initiation from RNA polymerase II promoter GO:0006367 9.77 SOX9 NR5A1 NR0B1
11 male gonad development GO:0008584 9.65 WT1 SOX9 NR5A1 NR0B1 GATA4
12 tissue development GO:0009888 9.63 WT1 NR5A1
13 branching involved in ureteric bud morphogenesis GO:0001658 9.62 WT1 SOX9
14 intracellular receptor signaling pathway GO:0030522 9.62 NR5A1 NR0B1
15 cell fate specification GO:0001708 9.61 SOX9 DHH
16 aortic valve morphogenesis GO:0003180 9.6 SOX9 GATA4
17 cardiac muscle tissue development GO:0048738 9.58 ZFPM2 GATA4
18 sex differentiation GO:0007548 9.57 SRY DMRT3
19 gonad development GO:0008406 9.55 WT1 NR0B1
20 Leydig cell differentiation GO:0033327 9.54 NR0B1 DHH
21 adrenal gland development GO:0030325 9.54 WT1 NR5A1 NR0B1
22 regulation of steroid biosynthetic process GO:0050810 9.52 NR5A1 DHH
23 Sertoli cell differentiation GO:0060008 9.51 SOX9 NR0B1
24 sex determination GO:0007530 9.5 WT1 NR5A1 NR0B1
25 male sex determination GO:0030238 9.35 SRY SOX9 NR5A1 NR0B1 DHH
26 negative regulation of female gonad development GO:2000195 9.33 ZFPM2 WT1 NR5A1
27 positive regulation of male gonad development GO:2000020 9.02 ZFPM2 WT1 SRY SOX9 NR5A1

Molecular functions related to 46,xy Partial Gonadal Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1
2 DNA-binding transcription factor activity GO:0003700 9.8 WT1 SRY SOX9 NR5A1 GATA4 DMRT3
3 transcription factor binding GO:0008134 9.73 ZFPM2 SRY NR0B1 GATA4
4 transcription coactivator activity GO:0003713 9.71 ZFPM2 WWOX NR5A1 GATA4
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.67 WT1 SOX9 NR5A1 GATA4
6 transcription regulatory region DNA binding GO:0044212 9.63 WT1 SOX9 GATA4
7 zinc ion binding GO:0008270 9.63 ZFPM2 WT1 NR5A1 MAP3K1 GATA4 DHH
8 sequence-specific DNA binding GO:0043565 9.43 WT1 SOX9 NR5A1 NR0B1 GATA4 DMRT3
9 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 ZFPM2 WT1 SRY SOX9 NR5A1 NR0B1

Sources for 46,xy Partial Gonadal Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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