POADS
MCID: PST049
MIFTS: 46

Postaxial Acrofacial Dysostosis (POADS)

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

Aliases & Classifications for Postaxial Acrofacial Dysostosis

MalaCards integrated aliases for Postaxial Acrofacial Dysostosis:

Name: Postaxial Acrofacial Dysostosis 58 26 60 76
Miller Syndrome 58 54 26 60 76 30 13 6 41
Genee-Wiedemann Syndrome 58 54 26 74
Poads 58 60 76 56
Genee-Wiedemann Acrofacial Dysostosis 54 26
Mandibulfacial Dysostosis with Postaxial Limb Anomalies 60
Postaxial Acrofacial Dysostosis Syndrome 54
Acrofacial Dysostosis, Genee-Wiedmann Type 60
Chromosome 11p Deletion Syndrome 74
Wildervanck-Smith Syndrome 54
Genée-Wiedemann Syndrome 77
Postaxial Acrodysostosis 60
Poads Syndrome 54
Gwafd 54

Characteristics:

Orphanet epidemiological data:

60
postaxial acrofacial dysostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
most cases are sporadic
autosomal recessive and dominant pedigrees described


HPO:

33
postaxial acrofacial dysostosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Postaxial Acrofacial Dysostosis

NIH Rare Diseases : 54 Miller syndrome is a rare condition that mainly affects the development of the face and limbs. Characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. The severity of the disorder varies among affected individuals. Miller syndrome is caused by mutations in the DHODH gene. It is inherited in an autosomal recessive manner.

MalaCards based summary : Postaxial Acrofacial Dysostosis, also known as miller syndrome, is related to say barber miller syndrome and acrofacial dysostosis 1, nager type. An important gene associated with Postaxial Acrofacial Dysostosis is DHODH (Dihydroorotate Dehydrogenase (Quinone)), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. The drugs Hemostatics and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney, and related phenotypes are malar flattening and microtia

Genetics Home Reference : 26 Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.

OMIM : 58 Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010). (263750)

UniProtKB/Swiss-Prot : 76 Postaxial acrofacial dysostosis: POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases.

Wikipedia : 77 Miller syndrome is a genetic condition also known as the Genee–Wiedemann syndrome, Wildervanck–Smith... more...

Related Diseases for Postaxial Acrofacial Dysostosis

Graphical network of the top 20 diseases related to Postaxial Acrofacial Dysostosis:



Diseases related to Postaxial Acrofacial Dysostosis

Symptoms & Phenotypes for Postaxial Acrofacial Dysostosis

Human phenotypes related to Postaxial Acrofacial Dysostosis:

60 33 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 60 33 hallmark (90%) Very frequent (99-80%) HP:0000272
2 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
3 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
4 abnormal dermatoglyphics 60 33 hallmark (90%) Very frequent (99-80%) HP:0007477
5 low-set, posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000368
6 downslanted palpebral fissures 60 33 hallmark (90%) Very frequent (99-80%) HP:0000494
7 hypoplasia of the ulna 60 33 hallmark (90%) Very frequent (99-80%) HP:0003022
8 supernumerary nipple 60 33 hallmark (90%) Very frequent (99-80%) HP:0002558
9 hypoplasia of the radius 60 33 hallmark (90%) Very frequent (99-80%) HP:0002984
10 cupped ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0000378
11 ectropion of lower eyelids 60 33 hallmark (90%) Very frequent (99-80%) HP:0007651
12 eyelid coloboma 33 hallmark (90%) HP:0000625
13 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
14 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
15 non-midline cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0100335
16 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
17 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
18 abnormality of cardiovascular system morphology 33 frequent (33%) HP:0030680
19 strabismus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000486
20 low-set ears 33 HP:0000369
21 pectus excavatum 33 HP:0000767
22 malformation of the heart and great vessels 60 Frequent (79-30%)
23 cryptorchidism 33 HP:0000028
24 growth delay 33 HP:0001510
25 postnatal growth retardation 33 HP:0008897
26 abnormality of the foot 33 HP:0001760
27 congenital hip dislocation 33 HP:0001374
28 abnormality of the kidney 33 HP:0000077
29 choanal atresia 33 HP:0000453
30 radioulnar synostosis 33 HP:0002974
31 pyloric stenosis 33 HP:0002021
32 cleft upper lip 33 HP:0000204
33 ectropion 33 HP:0000656
34 micropenis 33 HP:0000054
35 abnormality of the middle ear 60 Frequent (79-30%)
36 cleft eyelid 60 Very frequent (99-80%)
37 syndactyly 33 HP:0001159
38 conical tooth 33 HP:0000698
39 short thumb 33 HP:0009778
40 midgut malrotation 33 HP:0005211
41 supernumerary vertebrae 33 HP:0002946

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
conductive hearing loss
cup-shaped ears

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
choanal atresia

Abdomen Gastrointestinal:
pyloric stenosis
midgut malrotation

Genitourinary External Genitalia Male:
micropenis

Chest Breasts:
accessory nipples

Skeletal Skull:
malar hypoplasia

Growth Other:
postnatal growth deficiency

Skeletal Feet:
absence of fifth digit

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
rib defects

Head And Neck Face:
micrognathia

Skeletal Pelvis:
congenital hip dislocation

Skeletal Limbs:
radioulnar synostosis
radial hypoplasia
ulnar hypoplasia
in-curving forearms

Head And Neck Eyes:
ectropion
eyelid coloboma
downslanting palpebral fissure

Skeletal Hands:
syndactyly
thumb hypoplasia
absence of fifth digit

Head And Neck Teeth:
conical teeth

Genitourinary Kidneys:
renal anomalies

Skeletal Spine:
supernumerary vertebrae

Clinical features from OMIM:

263750

Drugs & Therapeutics for Postaxial Acrofacial Dysostosis

Drugs for Postaxial Acrofacial Dysostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hemostatics Not Applicable
2 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Analysis of Oculocerebrorenal Syndrome of Lowe Completed NCT00359515
2 Study of the Pathophysiological Mechanisms Involved in Bleeding Events Completed NCT01314560 Not Applicable
3 Prospective Research Rare Kidney Stones (ProRKS) Recruiting NCT02780297
4 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
5 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224

Search NIH Clinical Center for Postaxial Acrofacial Dysostosis

Genetic Tests for Postaxial Acrofacial Dysostosis

Genetic tests related to Postaxial Acrofacial Dysostosis:

# Genetic test Affiliating Genes
1 Miller Syndrome 30 DHODH

Anatomical Context for Postaxial Acrofacial Dysostosis

MalaCards organs/tissues related to Postaxial Acrofacial Dysostosis:

42
Bone, Eye, Kidney, Liver, Heart

Publications for Postaxial Acrofacial Dysostosis

Articles related to Postaxial Acrofacial Dysostosis:

(show all 26)
# Title Authors Year
1
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine. ( 27370710 )
2016
2
Orodental findings in postaxial acrofacial dysostosis. ( 24959059 )
2014
3
Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients. ( 22967083 )
2012
4
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. ( 22692683 )
2012
5
Miller syndrome with novel dihydroorotate dehydrogenase gene mutations. ( 21851494 )
2011
6
Extra phenotypic features in a girl with Miller syndrome. ( 21346561 )
2011
7
A variant or a &amp;quot;new&amp;quot; postaxial acrofacial dysostosis syndrome. ( 18286304 )
2008
8
Postaxial acrofacial dysostosis syndrome with vertebral segmentation defects. ( 8055139 )
1994
9
Miller postaxial acrofacial dysostosis. The phenotypic changes with age. ( 8357564 )
1993
10
Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance. ( 8375109 )
1993
11
Postaxial acrofacial dysostosis: report on two patients. ( 1488973 )
1992
12
Familial postaxial acrofacial dysostosis syndrome. ( 1433242 )
1992
13
Postaxial acrofacial dysostosis (Miller) syndrome: a new case. ( 1683410 )
1991
14
Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype. ( 1941965 )
1991
15
New form of postaxial acrofacial dysostosis? ( 1776633 )
1991
16
Severe postaxial acrofacial dysostosis: an anatomic and angiographic study. ( 2333876 )
1990
17
Postaxial acrofacial dysostosis: report of a Brazilian patient. ( 2596501 )
1989
18
Atypical postaxial acrofacial dysostosis (AFD): diabetic embryopathy or a new AFD syndrome? ( 2596502 )
1989
19
Postaxial acrofacial dysostosis or Miller syndrome. A case report. ( 2920751 )
1989
20
Postaxial acrofacial dysostosis syndrome with microcephaly, seizures and profound mental retardation. ( 3228151 )
1988
21
Miller's syndrome. Anaesthetic management of postaxial acrofacial dysostosis. ( 3661933 )
1987
22
Nager &amp;quot;syndrome&amp;quot; versus &amp;quot;anomaly&amp;quot; and its nosology with the postaxial acrofacial dysostosis syndrome of GenAce and Wiedemann. ( 3425605 )
1987
23
Postaxial acrofacial dysostosis (Miller) syndrome. ( 3612717 )
1987
24
Robin sequence and oligodactyly in mother and son--probably a further example of the postaxial acrofacial dysostosis syndrome. ( 3425604 )
1987
25
Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling. ( 7452413 )
1981
26
Postaxial acrofacial dysostosis syndrome. ( 501501 )
1979

Variations for Postaxial Acrofacial Dysostosis

UniProtKB/Swiss-Prot genetic disease variations for Postaxial Acrofacial Dysostosis:

76
# Symbol AA change Variation ID SNP ID
1 DHODH p.Gly19Glu VAR_062412 rs267606765
2 DHODH p.Arg135Cys VAR_062413 rs201230446
3 DHODH p.Gly152Arg VAR_062414 rs267606766
4 DHODH p.Arg199Cys VAR_062415 rs267606769
5 DHODH p.Gly202Ala VAR_062416 rs267606767
6 DHODH p.Gly202Asp VAR_062417 rs267606767
7 DHODH p.Arg244Trp VAR_062418 rs267606768
8 DHODH p.Thr284Ile VAR_062419
9 DHODH p.Arg346Trp VAR_062420 rs201947120
10 DHODH p.Asp392Gly VAR_062421 rs779076692

ClinVar genetic disease variations for Postaxial Acrofacial Dysostosis:

6 (show top 50) (show all 117)
# Gene Variation Type Significance SNP ID Assembly Location
1 DHODH NM_001361.4(DHODH): c.1036C> T (p.Arg346Trp) single nucleotide variant Pathogenic rs201947120 GRCh37 Chromosome 16, 72057435: 72057435
2 DHODH NM_001361.4(DHODH): c.1036C> T (p.Arg346Trp) single nucleotide variant Pathogenic rs201947120 GRCh38 Chromosome 16, 72023536: 72023536
3 DHODH NM_001361.4(DHODH): c.403C> T (p.Arg135Cys) single nucleotide variant Pathogenic/Likely pathogenic rs201230446 GRCh37 Chromosome 16, 72048540: 72048540
4 DHODH NM_001361.4(DHODH): c.403C> T (p.Arg135Cys) single nucleotide variant Pathogenic/Likely pathogenic rs201230446 GRCh38 Chromosome 16, 72014641: 72014641
5 DHODH NM_001361.4(DHODH): c.56G> A (p.Gly19Glu) single nucleotide variant Uncertain significance rs267606765 GRCh37 Chromosome 16, 72045983: 72045983
6 DHODH NM_001361.4(DHODH): c.56G> A (p.Gly19Glu) single nucleotide variant Uncertain significance rs267606765 GRCh38 Chromosome 16, 72012084: 72012084
7 DHODH NM_001361.4(DHODH): c.454G> A (p.Gly152Arg) single nucleotide variant Pathogenic rs267606766 GRCh37 Chromosome 16, 72050942: 72050942
8 DHODH NM_001361.4(DHODH): c.454G> A (p.Gly152Arg) single nucleotide variant Pathogenic rs267606766 GRCh38 Chromosome 16, 72017043: 72017043
9 DHODH NM_001361.4(DHODH): c.605G> C (p.Gly202Ala) single nucleotide variant Pathogenic rs267606767 GRCh37 Chromosome 16, 72055110: 72055110
10 DHODH NM_001361.4(DHODH): c.605G> C (p.Gly202Ala) single nucleotide variant Pathogenic rs267606767 GRCh38 Chromosome 16, 72021211: 72021211
11 DHODH NM_001361.4(DHODH): c.605G> A (p.Gly202Asp) single nucleotide variant Pathogenic rs267606767 GRCh37 Chromosome 16, 72055110: 72055110
12 DHODH NM_001361.4(DHODH): c.605G> A (p.Gly202Asp) single nucleotide variant Pathogenic rs267606767 GRCh38 Chromosome 16, 72021211: 72021211
13 DHODH NM_001361.4(DHODH): c.730C> T (p.Arg244Trp) single nucleotide variant Pathogenic rs267606768 GRCh37 Chromosome 16, 72056285: 72056285
14 DHODH NM_001361.4(DHODH): c.730C> T (p.Arg244Trp) single nucleotide variant Pathogenic rs267606768 GRCh38 Chromosome 16, 72022386: 72022386
15 DHODH DHODH, 1-BP DEL, 611T deletion Pathogenic
16 DHODH NM_001361.4(DHODH): c.595C> T (p.Arg199Cys) single nucleotide variant Pathogenic rs267606769 GRCh37 Chromosome 16, 72055100: 72055100
17 DHODH NM_001361.4(DHODH): c.595C> T (p.Arg199Cys) single nucleotide variant Pathogenic rs267606769 GRCh38 Chromosome 16, 72021201: 72021201
18 DHODH NM_001361.4(DHODH): c.1022C> T (p.Ala341Val) single nucleotide variant Benign/Likely benign rs61733129 GRCh37 Chromosome 16, 72057421: 72057421
19 DHODH NM_001361.4(DHODH): c.1022C> T (p.Ala341Val) single nucleotide variant Benign/Likely benign rs61733129 GRCh38 Chromosome 16, 72023522: 72023522
20 DHODH NM_001361.4(DHODH): c.19A> C (p.Lys7Gln) single nucleotide variant Benign rs3213422 GRCh37 Chromosome 16, 72042682: 72042682
21 DHODH NM_001361.4(DHODH): c.19A> C (p.Lys7Gln) single nucleotide variant Benign rs3213422 GRCh38 Chromosome 16, 72008783: 72008783
22 DHODH NM_001361.4(DHODH): c.294C> T (p.Asp98=) single nucleotide variant Conflicting interpretations of pathogenicity rs61747639 GRCh37 Chromosome 16, 72048431: 72048431
23 DHODH NM_001361.4(DHODH): c.294C> T (p.Asp98=) single nucleotide variant Conflicting interpretations of pathogenicity rs61747639 GRCh38 Chromosome 16, 72014532: 72014532
24 DHODH NM_001361.4(DHODH): c.573G> A (p.Ala191=) single nucleotide variant Conflicting interpretations of pathogenicity rs148523165 GRCh37 Chromosome 16, 72055078: 72055078
25 DHODH NM_001361.4(DHODH): c.573G> A (p.Ala191=) single nucleotide variant Conflicting interpretations of pathogenicity rs148523165 GRCh38 Chromosome 16, 72021179: 72021179
26 DHODH NM_001361.4(DHODH): c.72C> T (p.Phe24=) single nucleotide variant Uncertain significance rs61753576 GRCh38 Chromosome 16, 72012100: 72012100
27 DHODH NM_001361.4(DHODH): c.72C> T (p.Phe24=) single nucleotide variant Uncertain significance rs61753576 GRCh37 Chromosome 16, 72045999: 72045999
28 DHODH NM_001361.4(DHODH): c.457C> A (p.Leu153Ile) single nucleotide variant Uncertain significance rs61741731 GRCh38 Chromosome 16, 72017046: 72017046
29 DHODH NM_001361.4(DHODH): c.457C> A (p.Leu153Ile) single nucleotide variant Uncertain significance rs61741731 GRCh37 Chromosome 16, 72050945: 72050945
30 DHODH NM_001361.4(DHODH): c.890G> A (p.Arg297His) single nucleotide variant Uncertain significance rs200181357 GRCh38 Chromosome 16, 72023235: 72023235
31 DHODH NM_001361.4(DHODH): c.890G> A (p.Arg297His) single nucleotide variant Uncertain significance rs200181357 GRCh37 Chromosome 16, 72057134: 72057134
32 DHODH NM_001361.4(DHODH): c.959A> G (p.Tyr320Cys) single nucleotide variant Uncertain significance rs886052279 GRCh38 Chromosome 16, 72023304: 72023304
33 DHODH NM_001361.4(DHODH): c.959A> G (p.Tyr320Cys) single nucleotide variant Uncertain significance rs886052279 GRCh37 Chromosome 16, 72057203: 72057203
34 DHODH NM_001361.4(DHODH): c.*139C> T single nucleotide variant Uncertain significance rs140263128 GRCh38 Chromosome 16, 72024338: 72024338
35 DHODH NM_001361.4(DHODH): c.*139C> T single nucleotide variant Uncertain significance rs140263128 GRCh37 Chromosome 16, 72058237: 72058237
36 DHODH NM_001361.4(DHODH): c.*252C> T single nucleotide variant Uncertain significance rs147792232 GRCh37 Chromosome 16, 72058350: 72058350
37 DHODH NM_001361.4(DHODH): c.*252C> T single nucleotide variant Uncertain significance rs147792232 GRCh38 Chromosome 16, 72024451: 72024451
38 DHODH NM_001361.4(DHODH): c.*783A> G single nucleotide variant Benign rs2288000 GRCh38 Chromosome 16, 72024982: 72024982
39 DHODH NM_001361.4(DHODH): c.*783A> G single nucleotide variant Benign rs2288000 GRCh37 Chromosome 16, 72058881: 72058881
40 DHODH NM_001361.4(DHODH): c.*1035_*1038delTTCT deletion Uncertain significance rs886052283 GRCh38 Chromosome 16, 72025234: 72025237
41 DHODH NM_001361.4(DHODH): c.*1035_*1038delTTCT deletion Uncertain significance rs886052283 GRCh37 Chromosome 16, 72059133: 72059136
42 DHODH NM_001361.4(DHODH): c.*1174T> G single nucleotide variant Uncertain significance rs148338434 GRCh38 Chromosome 16, 72025373: 72025373
43 DHODH NM_001361.4(DHODH): c.*1174T> G single nucleotide variant Uncertain significance rs148338434 GRCh37 Chromosome 16, 72059272: 72059272
44 DHODH NM_001361.4(DHODH): c.22-11C> T single nucleotide variant Uncertain significance rs770515591 GRCh38 Chromosome 16, 72012039: 72012039
45 DHODH NM_001361.4(DHODH): c.22-11C> T single nucleotide variant Uncertain significance rs770515591 GRCh37 Chromosome 16, 72045938: 72045938
46 DHODH NM_001361.4(DHODH): c.154G> C (p.Glu52Gln) single nucleotide variant Uncertain significance rs368395651 GRCh38 Chromosome 16, 72012182: 72012182
47 DHODH NM_001361.4(DHODH): c.154G> C (p.Glu52Gln) single nucleotide variant Uncertain significance rs368395651 GRCh37 Chromosome 16, 72046081: 72046081
48 DHODH NM_001361.4(DHODH): c.492G> T (p.Gln164His) single nucleotide variant Uncertain significance rs768224976 GRCh38 Chromosome 16, 72017081: 72017081
49 DHODH NM_001361.4(DHODH): c.492G> T (p.Gln164His) single nucleotide variant Uncertain significance rs768224976 GRCh37 Chromosome 16, 72050980: 72050980
50 DHODH NM_001361.4(DHODH): c.666C> G (p.Ser222Arg) single nucleotide variant Uncertain significance rs528598713 GRCh38 Chromosome 16, 72021272: 72021272

Expression for Postaxial Acrofacial Dysostosis

Search GEO for disease gene expression data for Postaxial Acrofacial Dysostosis.

Pathways for Postaxial Acrofacial Dysostosis

GO Terms for Postaxial Acrofacial Dysostosis

Biological processes related to Postaxial Acrofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 8.96 PLAT THBD
2 female pregnancy GO:0007565 8.62 DHODH THBD

Sources for Postaxial Acrofacial Dysostosis

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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