MCID: OMD003
MIFTS: 32

Omodysplasia

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

Aliases & Classifications for Omodysplasia

MalaCards integrated aliases for Omodysplasia:

Name: Omodysplasia 12 59 6 15
Omodysplasia Type 1 44 73
Omodysplasia 2 44 73
Omodysplasia, Type 1 40

Characteristics:

Orphanet epidemiological data:

59
omodysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0060288
Orphanet 59 ORPHA2733
ICD10 via Orphanet 34 Q78.8

Summaries for Omodysplasia

MalaCards based summary : Omodysplasia, also known as omodysplasia type 1, is related to omodysplasia 1 and omodysplasia 2. An important gene associated with Omodysplasia is GPC6 (Glypican 6), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include bone, and related phenotypes are craniofacial and growth/size/body region

Related Diseases for Omodysplasia

Diseases in the Omodysplasia family:

Omodysplasia 2 Omodysplasia 1

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

# Related Disease Score Top Affiliating Genes
1 omodysplasia 1 34.1 GPC6 GPC6-AS2
2 omodysplasia 2 12.4
3 atelosteogenesis 10.1 GPC6 SLC26A2
4 robinow syndrome 9.9
5 ovarian clear cell carcinoma 9.6 CD44 GPC3
6 body dysmorphic disorder 9.4 GPC1 GPC3 GPC6
7 simpson-golabi-behmel syndrome 9.3 GPC1 GPC3 GPC6
8 thrombocytopenia-absent radius syndrome 9.3 SATB2 SLC26A2
9 gastrointestinal system cancer 9.2 CD44 GPC3

Graphical network of the top 20 diseases related to Omodysplasia:



Diseases related to Omodysplasia

Symptoms & Phenotypes for Omodysplasia

MGI Mouse Phenotypes related to Omodysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.77 FZD2 GPC3 GPC6 SATB2 SLC26A2
2 growth/size/body region MP:0005378 9.73 CD44 FZD2 GPC3 GPC6 SATB2 SLC26A2
3 digestive/alimentary MP:0005381 9.72 CD44 FZD2 GPC3 GPC6 SATB2
4 limbs/digits/tail MP:0005371 9.55 CD44 GPC3 GPC6 SATB2 SLC26A2
5 respiratory system MP:0005388 9.26 GPC3 GPC6 SATB2 CD44
6 skeleton MP:0005390 9.1 CD44 FZD2 GPC3 GPC6 SATB2 SLC26A2

Drugs & Therapeutics for Omodysplasia

Search Clinical Trials , NIH Clinical Center for Omodysplasia

Cochrane evidence based reviews: omodysplasia 2

Genetic Tests for Omodysplasia

Anatomical Context for Omodysplasia

MalaCards organs/tissues related to Omodysplasia:

41
Bone

Publications for Omodysplasia

Articles related to Omodysplasia:

(show all 18)
# Title Authors Year
1
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. ( 29383834 )
2018
2
A Novel de novo<i>FZD2</i>Mutation in a Patient with Autosomal Dominant Omodysplasia. ( 29230162 )
2017
3
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. ( 25759469 )
2015
4
Long-term observation of a patient with dominant omodysplasia. ( 24458798 )
2014
5
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. ( 19481194 )
2009
6
Omodysplasia: the first reported Brazilian case. ( 17823719 )
2007
7
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. ( 15887278 )
2005
8
Recessive omodysplasia: five new cases and review of the literature. ( 14566439 )
2004
9
Omodysplasia: an affected mother and son. ( 12210345 )
2002
10
Anaesthesia in a child with autosomal recessive omodysplasia. ( 11261917 )
2001
11
Autosomal-recessive omodysplasia: prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones. ( 9508243 )
1998
12
Autosomal recessive omodysplasia: report of three additional cases. ( 9716634 )
1998
13
Autosomal recessive omodysplasia. ( 7486832 )
1995
14
Nosology of omodysplasia. ( 8533851 )
1995
15
Autosomal recessive omodysplasia. ( 7735505 )
1995
16
Parental consanguinity in two sibs with omodysplasia. ( 8209882 )
1994
17
Omodysplasia. ( 1456299 )
1992
18
Omodysplasia. ( 2729357 )
1989

Variations for Omodysplasia

ClinVar genetic disease variations for Omodysplasia:

6
(show top 50) (show all 168)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPC6 NM_005708.4(GPC6): c.1129G> A (p.Ala377Thr) single nucleotide variant Uncertain significance rs779691812 GRCh37 Chromosome 13, 94958354: 94958354
2 GPC6 NM_005708.4(GPC6): c.1129G> A (p.Ala377Thr) single nucleotide variant Uncertain significance rs779691812 GRCh38 Chromosome 13, 94306100: 94306100
3 GPC6 NM_005708.4(GPC6): c.-320C> A single nucleotide variant Likely benign rs17645969 GRCh37 Chromosome 13, 93879390: 93879390
4 GPC6 NM_005708.4(GPC6): c.-320C> A single nucleotide variant Likely benign rs17645969 GRCh38 Chromosome 13, 93227137: 93227137
5 GPC6 NM_005708.4(GPC6): c.-69C> T single nucleotide variant Uncertain significance rs533965995 GRCh38 Chromosome 13, 93227388: 93227388
6 GPC6 NM_005708.4(GPC6): c.-69C> T single nucleotide variant Uncertain significance rs533965995 GRCh37 Chromosome 13, 93879641: 93879641
7 GPC6 NM_005708.4(GPC6): c.1088G> A (p.Arg363His) single nucleotide variant Uncertain significance rs765468152 GRCh38 Chromosome 13, 94306059: 94306059
8 GPC6 NM_005708.4(GPC6): c.1088G> A (p.Arg363His) single nucleotide variant Uncertain significance rs765468152 GRCh37 Chromosome 13, 94958313: 94958313
9 GPC6 NM_005708.4(GPC6): c.1234G> A (p.Val412Met) single nucleotide variant Benign rs1535692 GRCh38 Chromosome 13, 94382495: 94382495
10 GPC6 NM_005708.4(GPC6): c.1234G> A (p.Val412Met) single nucleotide variant Benign rs1535692 GRCh37 Chromosome 13, 95034749: 95034749
11 GPC6 NM_005708.4(GPC6): c.1248G> A (p.Thr416=) single nucleotide variant Benign rs2274020 GRCh38 Chromosome 13, 94382509: 94382509
12 GPC6 NM_005708.4(GPC6): c.1248G> A (p.Thr416=) single nucleotide variant Benign rs2274020 GRCh37 Chromosome 13, 95034763: 95034763
13 GPC6 NM_005708.4(GPC6): c.1524G> A (p.Thr508=) single nucleotide variant Uncertain significance rs767667871 GRCh37 Chromosome 13, 95055327: 95055327
14 GPC6 NM_005708.4(GPC6): c.1524G> A (p.Thr508=) single nucleotide variant Uncertain significance rs767667871 GRCh38 Chromosome 13, 94403073: 94403073
15 GPC6 NM_005708.4(GPC6): c.1601G> A (p.Arg534His) single nucleotide variant Uncertain significance rs142131323 GRCh37 Chromosome 13, 95055404: 95055404
16 GPC6 NM_005708.4(GPC6): c.1601G> A (p.Arg534His) single nucleotide variant Uncertain significance rs142131323 GRCh38 Chromosome 13, 94403150: 94403150
17 GPC6 NM_005708.4(GPC6): c.*255G> A single nucleotide variant Likely benign rs9584224 GRCh37 Chromosome 13, 95055726: 95055726
18 GPC6 NM_005708.4(GPC6): c.*255G> A single nucleotide variant Likely benign rs9584224 GRCh38 Chromosome 13, 94403472: 94403472
19 GPC6 NM_005708.4(GPC6): c.*696_*697delCT deletion Likely benign rs10606518 GRCh37 Chromosome 13, 95056167: 95056168
20 GPC6 NM_005708.4(GPC6): c.*696_*697delCT deletion Likely benign rs10606518 GRCh38 Chromosome 13, 94403913: 94403914
21 GPC6 NM_005708.4(GPC6): c.*1169T> C single nucleotide variant Uncertain significance rs886050353 GRCh38 Chromosome 13, 94404386: 94404386
22 GPC6 NM_005708.4(GPC6): c.*1169T> C single nucleotide variant Uncertain significance rs886050353 GRCh37 Chromosome 13, 95056640: 95056640
23 GPC6 NM_005708.4(GPC6): c.*1261G> A single nucleotide variant Uncertain significance rs141909370 GRCh38 Chromosome 13, 94404478: 94404478
24 GPC6 NM_005708.4(GPC6): c.*1261G> A single nucleotide variant Uncertain significance rs141909370 GRCh37 Chromosome 13, 95056732: 95056732
25 GPC6 NM_005708.4(GPC6): c.*1610A> C single nucleotide variant Uncertain significance rs189449594 GRCh38 Chromosome 13, 94404827: 94404827
26 GPC6 NM_005708.4(GPC6): c.*1610A> C single nucleotide variant Uncertain significance rs189449594 GRCh37 Chromosome 13, 95057081: 95057081
27 GPC6 NM_005708.4(GPC6): c.*1665C> A single nucleotide variant Benign rs7334430 GRCh38 Chromosome 13, 94404882: 94404882
28 GPC6 NM_005708.4(GPC6): c.*1665C> A single nucleotide variant Benign rs7334430 GRCh37 Chromosome 13, 95057136: 95057136
29 GPC6 NM_005708.4(GPC6): c.*2031A> C single nucleotide variant Benign rs45618731 GRCh38 Chromosome 13, 94405248: 94405248
30 GPC6 NM_005708.4(GPC6): c.*2031A> C single nucleotide variant Benign rs45618731 GRCh37 Chromosome 13, 95057502: 95057502
31 GPC6 NM_005708.4(GPC6): c.*2852C> G single nucleotide variant Uncertain significance rs886050360 GRCh37 Chromosome 13, 95058323: 95058323
32 GPC6 NM_005708.4(GPC6): c.*2852C> G single nucleotide variant Uncertain significance rs886050360 GRCh38 Chromosome 13, 94406069: 94406069
33 GPC6 NM_005708.4(GPC6): c.*4236G> A single nucleotide variant Uncertain significance rs569687072 GRCh37 Chromosome 13, 95059707: 95059707
34 GPC6 NM_005708.4(GPC6): c.*4236G> A single nucleotide variant Uncertain significance rs569687072 GRCh38 Chromosome 13, 94407453: 94407453
35 GPC6 NM_005708.4(GPC6): c.*4239A> G single nucleotide variant Uncertain significance rs886050365 GRCh37 Chromosome 13, 95059710: 95059710
36 GPC6 NM_005708.4(GPC6): c.*4239A> G single nucleotide variant Uncertain significance rs886050365 GRCh38 Chromosome 13, 94407456: 94407456
37 GPC6 NM_005708.4(GPC6): c.*4656T> A single nucleotide variant Benign rs9561553 GRCh37 Chromosome 13, 95060127: 95060127
38 GPC6 NM_005708.4(GPC6): c.*4656T> A single nucleotide variant Benign rs9561553 GRCh38 Chromosome 13, 94407873: 94407873
39 GPC6 NM_005708.4(GPC6): c.-442C> T single nucleotide variant Uncertain significance rs886050348 GRCh38 Chromosome 13, 93227015: 93227015
40 GPC6 NM_005708.4(GPC6): c.-442C> T single nucleotide variant Uncertain significance rs886050348 GRCh37 Chromosome 13, 93879268: 93879268
41 GPC6 NM_005708.4(GPC6): c.-137C> T single nucleotide variant Uncertain significance rs188450235 GRCh38 Chromosome 13, 93227320: 93227320
42 GPC6 NM_005708.4(GPC6): c.-137C> T single nucleotide variant Uncertain significance rs188450235 GRCh37 Chromosome 13, 93879573: 93879573
43 GPC6 NM_005708.4(GPC6): c.-100G> A single nucleotide variant Uncertain significance rs535904928 GRCh38 Chromosome 13, 93227357: 93227357
44 GPC6 NM_005708.4(GPC6): c.-100G> A single nucleotide variant Uncertain significance rs535904928 GRCh37 Chromosome 13, 93879610: 93879610
45 GPC6 NM_005708.4(GPC6): c.49C> A (p.Leu17Ile) single nucleotide variant Uncertain significance rs748464893 GRCh38 Chromosome 13, 93227505: 93227505
46 GPC6 NM_005708.4(GPC6): c.49C> A (p.Leu17Ile) single nucleotide variant Uncertain significance rs748464893 GRCh37 Chromosome 13, 93879758: 93879758
47 GPC6 NM_005708.4(GPC6): c.1162A> G (p.Ile388Val) single nucleotide variant Uncertain significance rs144734105 GRCh38 Chromosome 13, 94382423: 94382423
48 GPC6 NM_005708.4(GPC6): c.1162A> G (p.Ile388Val) single nucleotide variant Uncertain significance rs144734105 GRCh37 Chromosome 13, 95034677: 95034677
49 GPC6 NM_005708.4(GPC6): c.*126G> C single nucleotide variant Uncertain significance rs117059477 GRCh37 Chromosome 13, 95055597: 95055597
50 GPC6 NM_005708.4(GPC6): c.*126G> C single nucleotide variant Uncertain significance rs117059477 GRCh38 Chromosome 13, 94403343: 94403343

Copy number variations for Omodysplasia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 79804 13 77800000 98100000 Deletion or duplicat ion GPC6 Omodysplasia

Expression for Omodysplasia

Search GEO for disease gene expression data for Omodysplasia.

Pathways for Omodysplasia

Pathways related to Omodysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 CD44 GPC1 GPC3 GPC6 SLC26A2
2
Show member pathways
12.24 GPC1 GPC3 GPC6
3
Show member pathways
12.12 GPC1 GPC3 GPC6
4
Show member pathways
12.09 FZD2 GPC1 GPC3 GPC6
5
Show member pathways
11.95 CD44 GPC1 GPC3 GPC6
6
Show member pathways
11.91 GPC1 GPC3 GPC6
7
Show member pathways
11.71 GPC1 GPC3 GPC6
8 11.56 CD44 FZD2 GPC1 GPC3
9
Show member pathways
11.1 FZD2 GPC1 GPC3 GPC6

GO Terms for Omodysplasia

Cellular components related to Omodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.72 CD44 GPC1 GPC3 GPC6 SLC26A2
2 anchored component of membrane GO:0031225 9.43 GPC1 GPC3 GPC6
3 Golgi lumen GO:0005796 9.33 GPC1 GPC3 GPC6
4 lysosomal lumen GO:0043202 9.13 GPC1 GPC3 GPC6
5 anchored component of plasma membrane GO:0046658 8.8 GPC1 GPC3 GPC6

Biological processes related to Omodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.5 GPC1 GPC3 GPC6
2 regulation of signal transduction GO:0009966 9.43 GPC1 GPC3 GPC6
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.4 FZD2 GPC6
4 cartilage development GO:0051216 9.37 CD44 SATB2
5 glycosaminoglycan biosynthetic process GO:0006024 9.33 GPC1 GPC3 GPC6
6 glycosaminoglycan metabolic process GO:0030203 9.13 GPC1 GPC3 GPC6
7 glycosaminoglycan catabolic process GO:0006027 8.8 GPC1 GPC3 GPC6

Molecular functions related to Omodysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparan sulfate proteoglycan binding GO:0043395 8.8 GPC1 GPC3 GPC6

Sources for Omodysplasia

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
Content
Loading form....