MCID: OST044
MIFTS: 49

Osteoglophonic Dysplasia

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Osteoglophonic Dysplasia

MalaCards integrated aliases for Osteoglophonic Dysplasia:

Name: Osteoglophonic Dysplasia 54 50 24 25 71 29 13
Osteoglophonic Dwarfism 50 24 25 56 71
Ogd 50 25 71
Fairbank-Keats Syndrome 50 25

Characteristics:

Orphanet epidemiological data:

56
osteoglophonic dwarfism
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
osteoglophonic, derived from greek meaning "hollowed out"


HPO:

32
osteoglophonic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Osteoglophonic Dysplasia

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 2645disease definitionosteoglophonic dwarfism (ogd) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.epidemiologyless than ten cases have been reported so far.clinical descriptionmain clinical features include craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism, midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs, short and broad hands and fingers, and flat feet. the main radiographic features are craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. intelligence is usually normal.etiologyogd is caused by mutations in the fgfr1 gene (8p11.2-p11.1).genetic counselingogd is transmitted in an autosomal dominant manner.visit the orphanet disease page for more resources. last updated: 9/30/2009

MalaCards based summary : Osteoglophonic Dysplasia, also known as osteoglophonic dwarfism, is related to syringobulbia and osteopetrosis and infantile neuroaxonal dystrophy, and has symptoms including scoliosis, micrognathia and hypertelorism. An important gene associated with Osteoglophonic Dysplasia is FGFR1 (Fibroblast Growth Factor Receptor 1), and among its related pathways/superpathways are Akt Signaling and Cytokine Signaling in Immune system. Affiliated tissues include bone, and related phenotypes are Condensed cis-Golgi and Decreased human cytomegalovirus (HCMV) strain AD169 replication

Genetics Home Reference : 25 Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.

UniProtKB/Swiss-Prot : 71 Osteoglophonic dysplasia: Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant.

Description from OMIM: 166250

Related Diseases for Osteoglophonic Dysplasia

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

(show all 38)
id Related Disease Score Top Affiliating Genes
1 syringobulbia 10.0 FGFR1 FGFR3
2 osteopetrosis and infantile neuroaxonal dystrophy 10.0 FGFR1 FGFR3
3 juvenile astrocytoma 9.9 FGFR1 FGFR3
4 hypertrophic pyloric stenosis 9.9
5 pyloric stenosis 9.9
6 neuronitis 9.9
7 ocular hypotension 9.8 FGFR2 FGFR3
8 apert syndrome 9.8 FGFR2 FGFR3
9 grade iii astrocytoma 9.8 FGFR1 FGFR3
10 esotropia 9.8 FGFR2 FGFR3
11 crouzon syndrome with acanthosis nigricans 9.8 FGFR2 FGFR3
12 mucinoses 9.8 FGFR2 FGFR3
13 phkg2-related phosphorylase kinase deficiency 9.8 FGFR1 FGFR2
14 simosa craniofacial syndrome 9.7 FGFR2 FGFR3
15 uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis 9.7 FGFR1 FGFR2
16 slc6a4-related altered drug metabolism 9.7 FGFR2 FGFR3
17 weill-marchesani syndrome 9.7 FGFR1 FGFR2
18 central nervous system chondroma 9.7 FGFR2 FGFR3
19 y-linked disease 9.6 FGFR2 FGFR3
20 pancreatic serous cystic neoplasm 9.6 FGFR1 FGFR2
21 paget's disease of bone 9.5 FGFR2 FGFR3
22 ichthyosis lamellar 1 9.5 FGFR2 FGFR3
23 myasthenic syndrome, congenital, 2a, slow-channel 9.3 FGFR1 FGFR2
24 plasmalogens synthesis deficiency isolated 9.3 FGFR1 FGFR2 FGFR3
25 trigonocephaly 1 9.3 FGFR1 FGFR2 FGFR3
26 hypogonadotropic hypogonadism 2 with or without anosmia 9.3 FGFR1 FGFR2 FGFR3
27 thanatophoric dysplasia, type i 9.3 FGFR1 FGFR2 FGFR3
28 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 9.3 FGFR1 FGFR2 FGFR3
29 beare-stevenson cutis gyrata syndrome 9.3 FGFR1 FGFR2 FGFR3
30 bladder cancer, somatic 9.3 FGFR1 FGFR2 FGFR3
31 thanatophoric dysplasia, type ii 9.3 FGFR1 FGFR2 FGFR3
32 ischemic bone disease 9.3 FGFR1 FGFR2 FGFR3
33 hypochondroplasia 9.3 FGFR1 FGFR2 FGFR3
34 craniosynostosis 1 9.2 FGFR1 FGFR2 FGFR3
35 jackson-weiss syndrome 9.2 FGFR1 FGFR2 FGFR3
36 osteopoikilosis 9.2 FGFR1 FGFR2 FGFR3
37 crohn's disease 9.2 FGFR1 FGFR2 FGFR3
38 primary congenital glaucoma 9.1 FGFR1 FGFR2

Graphical network of the top 20 diseases related to Osteoglophonic Dysplasia:



Diseases related to Osteoglophonic Dysplasia

Symptoms & Phenotypes for Osteoglophonic Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Neurologic- Central Nervous System:
speech delay

Head And Neck- Ears:
low-set ears

Skeletal- Spine:
platyspondyly

Head And Neck- Face:
midface hypoplasia
frontal bossing
long philtrum
prognathism

Skin Nails & Hair- Nails:
hypoplastic toenails

Head And Neck- Neck:
short neck

Chest- Ribs Sternum Clavicles And Scapulae:
small scapulae
progressive rib expansion

Head And Neck- Teeth:
unerupted teeth

Skeletal- Hands:
short, broad hands
short, broad phalanges
short, broad metacarpals

Respiratory- Nasopharynx:
nasal obstruction

Head And Neck- Mouth:
high-arched palate

Head And Neck- Eyes:
downslanting palpebral fissures
hypertelorism
proptosis

Head And Neck- Nose:
depressed nasal bridge
short nose
anteverted nares

Genitourinary- External Genitalia Male:
hypospadias
inguinal hernia
chordee

Respiratory:
respiratory distress

Genitourinary- Internal Genitalia Male:
cryptorchidism

Growth- Height:
rhizomelic dwarfism

Skeletal- Skull:
craniosynostosis
shallow orbits
kleeblattschaedel deformity

Skeletal- Limbs:
fractures
short, bowed limbs
irregular areas of radiolucency in metaphyses
pseudoarthroses

Skeletal- Feet:
short, broad feet
short, broad metatarsals

Skin Nails & Hair- Skin:
pretibial dimples


Clinical features from OMIM:

166250

Human phenotypes related to Osteoglophonic Dysplasia:

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
3 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
4 choanal atresia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000453
5 anteverted nares 56 32 frequent (33%) Frequent (79-30%) HP:0000463
6 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
7 inguinal hernia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000023
8 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
9 rhizomelia 56 32 frequent (33%) Frequent (79-30%) HP:0008905
10 craniosynostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001363
11 delayed skeletal maturation 56 32 frequent (33%) Frequent (79-30%) HP:0002750
12 failure to thrive in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0001531
13 multiple unerupted teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0006283
14 abnormal form of the vertebral bodies 56 32 hallmark (90%) Very frequent (99-80%) HP:0003312
15 protruding ear 56 32 frequent (33%) Frequent (79-30%) HP:0000411
16 abnormal bone ossification 56 32 occasional (7.5%) Occasional (29-5%) HP:0011849
17 reduced number of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0009804
18 severe short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003510
19 abnormality of the clavicle 56 32 frequent (33%) Frequent (79-30%) HP:0000889
20 failure to thrive 32 HP:0001508
21 brachydactyly 32 occasional (7.5%) HP:0001156
22 low-set ears 32 HP:0000369
23 depressed nasal bridge 32 HP:0005280
24 platyspondyly 32 HP:0000926
25 hypospadias 32 HP:0000047
26 frontal bossing 32 HP:0002007
27 short nose 32 HP:0003196
28 respiratory distress 32 HP:0002098
29 hypoplastic toenails 32 HP:0001800
30 short neck 32 HP:0000470
31 hypoplastic scapulae 32 HP:0000882
32 long philtrum 32 HP:0000343
33 midface retrusion 32 HP:0011800
34 downslanted palpebral fissures 32 HP:0000494
35 high palate 32 HP:0000218
36 malar flattening 32 HP:0000272
37 shallow orbits 32 HP:0000586
38 chordee 32 HP:0000041
39 increased susceptibility to fractures 32 HP:0002659
40 cloverleaf skull 32 HP:0002676
41 nasal obstruction 32 HP:0001742
42 bowing of the long bones 32 HP:0006487
43 short metacarpal 32 HP:0010049
44 delayed speech and language development 32 HP:0000750
45 short metatarsal 32 HP:0010743
46 broad metacarpals 32 HP:0001230
47 pseudoarthrosis 32 HP:0005864
48 mandibular prognathia 32 HP:0000303
49 short palm 32 HP:0004279
50 short foot 32 HP:0001773

GenomeRNAi Phenotypes related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 9.16 FGFR1 FGFR2
2 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.13 FGFR1 FGFR2 FGFR3
3 Decreased substrate adherent cell growth GR00193-A-2 8.8 FGFR2
4 Decreased substrate adherent cell growth GR00193-A-3 8.8 FGFR2 FGFR3

MGI Mouse Phenotypes related to Osteoglophonic Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.54 FGFR1 FGFR2 FGFR3
2 digestive/alimentary MP:0005381 9.5 FGFR1 FGFR2 FGFR3
3 hearing/vestibular/ear MP:0005377 9.43 FGFR1 FGFR2 FGFR3
4 limbs/digits/tail MP:0005371 9.33 FGFR1 FGFR2 FGFR3
5 no phenotypic analysis MP:0003012 9.13 FGFR2 FGFR3 FGFR1
6 renal/urinary system MP:0005367 8.8 FGFR1 FGFR2 FGFR3

Drugs & Therapeutics for Osteoglophonic Dysplasia

Search Clinical Trials , NIH Clinical Center for Osteoglophonic Dysplasia

Genetic Tests for Osteoglophonic Dysplasia

Genetic tests related to Osteoglophonic Dysplasia:

id Genetic test Affiliating Genes
1 Osteoglophonic Dysplasia 29 24 FGFR1

Anatomical Context for Osteoglophonic Dysplasia

MalaCards organs/tissues related to Osteoglophonic Dysplasia:

39
Bone

Publications for Osteoglophonic Dysplasia

Articles related to Osteoglophonic Dysplasia:

(show all 11)
id Title Authors Year
1
Adult-Onset Idiopathic Hypertrophic Pyloric Stenosis Associated With Osteoglophonic Dysplasia and HIV: Case Report and Review of Literature. ( 27599310 )
2016
2
Osteoglophonic dysplasia: a case report. ( 20339250 )
2010
3
Osteoglophonic dysplasia: A 'common' mutation in a rare disease. ( 20236123 )
2010
4
Osteoglophonic dysplasia: dental and orthodontic implications. ( 16918680 )
2006
5
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia. ( 16470795 )
2006
6
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation. ( 15625620 )
2005
7
Osteoglophonic dysplasia: appearance and progression of multiple nonossifying fibromata. ( 8995175 )
1997
8
Osteoglophonic dysplasia: review and further delineation of the syndrome. ( 8958322 )
1996
9
Osteoglophonic dysplasia. ( 2325100 )
1990
10
Osteoglophonic dysplasia. ( 2810341 )
1989
11
Osteoglophonic dysplasia: a new case. ( 3409933 )
1988

Variations for Osteoglophonic Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Osteoglophonic Dysplasia:

71
id Symbol AA change Variation ID SNP ID
1 FGFR1 p.Asn330Ile VAR_030987 rs121909632
2 FGFR1 p.Tyr374Cys VAR_030993 rs121909631
3 FGFR1 p.Cys381Arg VAR_030994 rs121909634

ClinVar genetic disease variations for Osteoglophonic Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 NM_023110.2(FGFR1): c.989A> T (p.Asn330Ile) single nucleotide variant Pathogenic rs121909632 GRCh37 Chromosome 8, 38279407: 38279407
2 FGFR1 NM_023110.2(FGFR1): c.1121A> G (p.Tyr374Cys) single nucleotide variant Pathogenic rs121909631 GRCh37 Chromosome 8, 38277214: 38277214
3 FGFR1 FGFR1, CYS379ARG single nucleotide variant Pathogenic
4 FGFR1 NM_023110.2(FGFR1): c.1141T> C (p.Cys381Arg) single nucleotide variant Pathogenic rs121909634 GRCh37 Chromosome 8, 38277194: 38277194

Expression for Osteoglophonic Dysplasia

Search GEO for disease gene expression data for Osteoglophonic Dysplasia.

Pathways for Osteoglophonic Dysplasia

Pathways related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 38)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13 FGFR1 FGFR2 FGFR3
2
Show member pathways
12.96 FGFR1 FGFR2 FGFR3
3
Show member pathways
12.93 FGFR1 FGFR2 FGFR3
4
Show member pathways
12.91 FGFR1 FGFR2 FGFR3
5
Show member pathways
12.89 FGFR1 FGFR2 FGFR3
6
Show member pathways
12.72 FGFR1 FGFR2 FGFR3
7
Show member pathways
12.7 FGFR1 FGFR2 FGFR3
8
Show member pathways
12.65 FGFR1 FGFR2 FGFR3
9
Show member pathways
12.54 FGFR1 FGFR2 FGFR3
10
Show member pathways
12.53 FGFR1 FGFR2 FGFR3
11
Show member pathways
12.43 FGFR1 FGFR2 FGFR3
12
Show member pathways
12.42 FGFR1 FGFR2 FGFR3
13 12.4 FGFR1 FGFR2 FGFR3
14
Show member pathways
12.39 FGFR1 FGFR2 FGFR3
15 12.36 FGFR1 FGFR2 FGFR3
16 12.34 FGFR1 FGFR2 FGFR3
17 12.31 FGFR1 FGFR2 FGFR3
18
Show member pathways
12.27 FGFR1 FGFR2 FGFR3
19
Show member pathways
12.19 FGFR1 FGFR2 FGFR3
20
Show member pathways
12.18 FGFR1 FGFR2 FGFR3
21
Show member pathways
12.11 FGFR1 FGFR2 FGFR3
22
Show member pathways
12.11 FGFR1 FGFR2 FGFR3
23
Show member pathways
12.05 FGFR1 FGFR2 FGFR3
24
Show member pathways
12.05 FGFR1 FGFR2 FGFR3
25
Show member pathways
11.94 FGFR1 FGFR2 FGFR3
26
Show member pathways
11.92 FGFR1 FGFR2 FGFR3
27
Show member pathways
11.86 FGFR1 FGFR2 FGFR3
28
Show member pathways
11.78 FGFR1 FGFR2 FGFR3
29 11.7 FGFR1 FGFR2 FGFR3
30 11.64 FGFR1 FGFR2 FGFR3
31 11.55 FGFR1 FGFR3
32 11.45 FGFR1 FGFR3
33 11.44 FGFR1 FGFR2 FGFR3
34 11.42 FGFR1 FGFR2 FGFR3
35 11.29 FGFR1 FGFR2
36 11.27 FGFR1 FGFR2 FGFR3
37 10.94 FGFR1 FGFR2 FGFR3
38 10.45 FGFR1 FGFR2 FGFR3

GO Terms for Osteoglophonic Dysplasia

Cellular components related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.13 FGFR1 FGFR2 FGFR3
2 cytoplasmic vesicle GO:0031410 8.8 FGFR1 FGFR2 FGFR3

Biological processes related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 35)
id Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.83 FGFR1 FGFR2 FGFR3
2 protein phosphorylation GO:0006468 9.82 FGFR1 FGFR2 FGFR3
3 positive regulation of GTPase activity GO:0043547 9.81 FGFR1 FGFR2 FGFR3
4 positive regulation of cell proliferation GO:0008284 9.81 FGFR1 FGFR2 FGFR3
5 MAPK cascade GO:0000165 9.74 FGFR1 FGFR2 FGFR3
6 protein autophosphorylation GO:0046777 9.7 FGFR1 FGFR2 FGFR3
7 peptidyl-tyrosine phosphorylation GO:0018108 9.69 FGFR1 FGFR2 FGFR3
8 in utero embryonic development GO:0001701 9.67 FGFR1 FGFR2
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.66 FGFR2 FGFR3
10 skeletal system development GO:0001501 9.66 FGFR1 FGFR3
11 lung development GO:0030324 9.65 FGFR1 FGFR2
12 inner ear morphogenesis GO:0042472 9.65 FGFR1 FGFR2
13 phosphatidylinositol-mediated signaling GO:0048015 9.65 FGFR1 FGFR2 FGFR3
14 ureteric bud development GO:0001657 9.63 FGFR1 FGFR2
15 skeletal system morphogenesis GO:0048705 9.62 FGFR1 FGFR2
16 chondrocyte differentiation GO:0002062 9.62 FGFR1 FGFR3
17 positive regulation of cell cycle GO:0045787 9.61 FGFR1 FGFR2
18 midbrain development GO:0030901 9.61 FGFR1 FGFR2
19 phosphatidylinositol phosphorylation GO:0046854 9.61 FGFR1 FGFR2 FGFR3
20 positive regulation of cardiac muscle cell proliferation GO:0060045 9.6 FGFR1 FGFR2
21 bone mineralization GO:0030282 9.59 FGFR2 FGFR3
22 bone morphogenesis GO:0060349 9.58 FGFR2 FGFR3
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 FGFR1 FGFR2
24 positive regulation of MAPK cascade GO:0043410 9.58 FGFR1 FGFR2 FGFR3
25 branching involved in salivary gland morphogenesis GO:0060445 9.56 FGFR1 FGFR2
26 lung-associated mesenchyme development GO:0060484 9.55 FGFR1 FGFR2
27 mesenchymal cell differentiation GO:0048762 9.54 FGFR1 FGFR2
28 fibroblast growth factor receptor signaling pathway GO:0008543 9.5 FGFR1 FGFR2 FGFR3
29 endochondral bone growth GO:0003416 9.49 FGFR2 FGFR3
30 orbitofrontal cortex development GO:0021769 9.46 FGFR1 FGFR2
31 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.43 FGFR1 FGFR2 FGFR3
32 ventricular zone neuroblast division GO:0021847 9.37 FGFR1 FGFR2
33 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
34 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.13 FGFR1 FGFR2 FGFR3
35 positive regulation of phospholipase activity GO:0010518 8.8 FGFR1 FGFR2 FGFR3

Molecular functions related to Osteoglophonic Dysplasia according to GeneCards Suite gene sharing:

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.65 FGFR1 FGFR2 FGFR3
2 protein kinase activity GO:0004672 9.63 FGFR1 FGFR2 FGFR3
3 nucleotide binding GO:0000166 9.61 FGFR1 FGFR2 FGFR3
4 protein tyrosine kinase activity GO:0004713 9.58 FGFR1 FGFR2 FGFR3
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.54 FGFR1 FGFR2 FGFR3
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.5 FGFR1 FGFR2 FGFR3
7 heparin binding GO:0008201 9.49 FGFR1 FGFR2
8 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.43 FGFR1 FGFR2 FGFR3
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.33 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor binding GO:0017134 9.13 FGFR1 FGFR2 FGFR3
11 fibroblast growth factor-activated receptor activity GO:0005007 8.8 FGFR1 FGFR2 FGFR3

Sources for Osteoglophonic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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