MCID: OMD003
MIFTS: 38

Omodysplasia

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Omodysplasia

MalaCards integrated aliases for Omodysplasia:

Name: Omodysplasia 12 58 36 29 6 15 39
Omodysplasia Type 1 70
Omodysplasia 2 70

Characteristics:

Orphanet epidemiological data:

58
omodysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060288
KEGG 36 H02154
SNOMED-CT 67 725164008
ICD10 via Orphanet 33 Q78.8
Orphanet 58 ORPHA2733
UMLS 70 C1850318 C2750355 C4510897

Summaries for Omodysplasia

KEGG : 36 Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican 6 (GPC6). An autosomal dominant form (OMOD2) involving only the upper limbs was later recognized as a separate disorder.

MalaCards based summary : Omodysplasia, also known as omodysplasia type 1, is related to omodysplasia 1 and simpson-golabi-behmel syndrome. An important gene associated with Omodysplasia is GPC6 (Glypican 6), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Chondroitin sulfate/dermatan sulfate metabolism. Related phenotypes are craniofacial and limbs/digits/tail

Disease Ontology : 12 An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism.

Related Diseases for Omodysplasia

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 9.5 FZD2 GPC3 GPC4 GPC6 HS2ST1 ROR2
2 limbs/digits/tail MP:0005371 9.17 CNPPD1 GPC3 GPC6 HS2ST1 MESP2 ROR2

Drugs & Therapeutics for Omodysplasia

Search Clinical Trials , NIH Clinical Center for Omodysplasia

Genetic Tests for Omodysplasia

Genetic tests related to Omodysplasia:

# Genetic test Affiliating Genes
1 Omodysplasia 29

Anatomical Context for Omodysplasia

Publications for Omodysplasia

Articles related to Omodysplasia:

(show all 25)
# Title Authors PMID Year
1
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. 61 6
25759469 2015
2
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. 6 61
19481194 2009
3
Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia. 61
32655339 2020
4
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations. 61
30455931 2018
5
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. 61
29383834 2018
6
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia. 61
29230162 2017
7
Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling. 61
28696225 2017
8
Long-term observation of a patient with dominant omodysplasia. 61
24458798 2014
9
Boning up on glypicans--opportunities for new insights into bone biology. 61
23297043 2013
10
Omodysplasia: the first reported Brazilian case. 61
17823719 2007
11
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. 61
15887278 2005
12
Recessive omodysplasia: five new cases and review of the literature. 61
14566439 2004
13
Congenital distal humeral dysplasia: a case report. 61
12497228 2003
14
Omodysplasia: an affected mother and son. 61
12210345 2002
15
Anaesthesia in a child with autosomal recessive omodysplasia. 61
11261917 2001
16
[Omodysplasia]. 61
11528787 2001
17
Autosomal recessive omodysplasia: report of three additional cases. 61
9716634 1998
18
Autosomal-recessive omodysplasia: prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones. 61
9508243 1998
19
Nosology of omodysplasia. 61
8533851 1995
20
Autosomal recessive omodysplasia. 61
7735505 1995
21
Autosomal recessive omodysplasia. 61
7486832 1995
22
Parental consanguinity in two sibs with omodysplasia. 61
8209882 1994
23
Omodysplasia. 61
1456299 1992
24
Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome. 61
1867270 1991
25
Omodysplasia. 61
2729357 1989

Variations for Omodysplasia

ClinVar genetic disease variations for Omodysplasia:

6 (show top 50) (show all 136)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPC6-AS2 , GPC6 NM_005708.5(GPC6):c.700C>T (p.Arg234Ter) SNV Pathogenic 5552 rs121908440 GRCh37: 13:94482787-94482787
GRCh38: 13:93830534-93830534
2 GPC6 NM_005708.3(GPC6):c.712_877dup Duplication Pathogenic 5553 GRCh37:
GRCh38: 13:94011504-94038749
3 GPC6 and overlap with 1 gene(s) NM_005708.3(GPC6):c.320_711del Deletion Pathogenic 5554 GRCh37: 13:94393571-94483201
GRCh38: 13:93741318-93830948
4 GPC6 and overlap with 1 gene(s) NM_005708.3(GPC6):c.320_711del Deletion Pathogenic 5555 GRCh37: 13:94255566-94512583
GRCh38: 13:93603313-93860330
5 GPC6 NC_000013.11:g.94252984_94352299del99316insCTA Indel Pathogenic 5551 GRCh37: 13:94905238-95004553
GRCh38: 13:94252984-94352299
6 GPC6 NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT Indel Pathogenic 5550 GRCh37: 13:94649261-94715755
GRCh38: 13:93997007-94063501
7 GPC6 NM_005708.5(GPC6):c.778del (p.Leu260fs) Deletion Pathogenic 5549 rs863223282 GRCh37: 13:94680049-94680049
GRCh38: 13:94027795-94027795
8 FZD2 NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) SNV Pathogenic 617609 rs1568105666 GRCh37: 17:42636700-42636700
GRCh38: 17:44559332-44559332
9 GPC6 NM_005708.5(GPC6):c.141C>T (p.Ile47=) SNV Uncertain significance 883472 GRCh37: 13:93879850-93879850
GRCh38: 13:93227597-93227597
10 GPC6 NM_005708.5(GPC6):c.-307T>A SNV Uncertain significance 312532 rs184142888 GRCh37: 13:93879403-93879403
GRCh38: 13:93227150-93227150
11 GPC6 NM_005708.5(GPC6):c.*3439T>C SNV Uncertain significance 312597 rs886050361 GRCh37: 13:95058910-95058910
GRCh38: 13:94406656-94406656
12 GPC6 NM_005708.5(GPC6):c.*1225C>G SNV Uncertain significance 312574 rs886050354 GRCh37: 13:95056696-95056696
GRCh38: 13:94404442-94404442
13 GPC6 NM_005708.5(GPC6):c.1485A>T (p.Ser495=) SNV Uncertain significance 312551 rs140343089 GRCh37: 13:95055288-95055288
GRCh38: 13:94403034-94403034
14 GPC6 NM_005708.5(GPC6):c.284G>A (p.Arg95His) SNV Uncertain significance 883473 GRCh37: 13:94197639-94197639
GRCh38: 13:93545386-93545386
15 GPC6 NM_005708.5(GPC6):c.*254C>T SNV Uncertain significance 883523 GRCh37: 13:95055725-95055725
GRCh38: 13:94403471-94403471
16 GPC6 NM_005708.5(GPC6):c.*1693C>A SNV Uncertain significance 883570 GRCh37: 13:95057164-95057164
GRCh38: 13:94404910-94404910
17 GPC6 NM_005708.5(GPC6):c.*1792G>A SNV Uncertain significance 883571 GRCh37: 13:95057263-95057263
GRCh38: 13:94405009-94405009
18 GPC6 NM_005708.5(GPC6):c.*1897G>C SNV Uncertain significance 883572 GRCh37: 13:95057368-95057368
GRCh38: 13:94405114-94405114
19 GPC6 NM_005708.5(GPC6):c.1570C>T (p.Arg524Trp) SNV Uncertain significance 312554 rs147610049 GRCh37: 13:95055373-95055373
GRCh38: 13:94403119-94403119
20 GPC6 NM_005708.5(GPC6):c.1496G>A (p.Ser499Asn) SNV Uncertain significance 312552 rs374652762 GRCh37: 13:95055299-95055299
GRCh38: 13:94403045-94403045
21 GPC6 NM_005708.5(GPC6):c.*422A>G SNV Uncertain significance 312565 rs776540396 GRCh37: 13:95055893-95055893
GRCh38: 13:94403639-94403639
22 GPC6 NM_005708.5(GPC6):c.*334del Deletion Uncertain significance 312562 rs35614368 GRCh37: 13:95055796-95055796
GRCh38: 13:94403542-94403542
23 GPC6 NM_005708.5(GPC6):c.*2799G>A SNV Uncertain significance 312594 rs886050359 GRCh37: 13:95058270-95058270
GRCh38: 13:94406016-94406016
24 GPC6 NM_005708.5(GPC6):c.*2299A>G SNV Uncertain significance 312591 rs886050358 GRCh37: 13:95057770-95057770
GRCh38: 13:94405516-94405516
25 GPC6 NM_005708.5(GPC6):c.-100G>A SNV Uncertain significance 312535 rs535904928 GRCh37: 13:93879610-93879610
GRCh38: 13:93227357-93227357
26 GPC6-AS2 , GPC6 NM_005708.5(GPC6):c.711+7G>A SNV Uncertain significance 881111 GRCh37: 13:94482805-94482805
GRCh38: 13:93830552-93830552
27 GPC6 NM_005708.5(GPC6):c.1037C>T (p.Pro346Leu) SNV Uncertain significance 881112 GRCh37: 13:94958262-94958262
GRCh38: 13:94306008-94306008
28 GPC6 NM_005708.5(GPC6):c.*734C>A SNV Uncertain significance 881150 GRCh37: 13:95056205-95056205
GRCh38: 13:94403951-94403951
29 GPC6 NM_005708.5(GPC6):c.*1032C>T SNV Uncertain significance 881151 GRCh37: 13:95056503-95056503
GRCh38: 13:94404249-94404249
30 GPC6 NM_005708.5(GPC6):c.*1035C>T SNV Uncertain significance 881152 GRCh37: 13:95056506-95056506
GRCh38: 13:94404252-94404252
31 GPC6 NM_005708.5(GPC6):c.*2212T>C SNV Uncertain significance 881202 GRCh37: 13:95057683-95057683
GRCh38: 13:94405429-94405429
32 GPC6 NM_005708.5(GPC6):c.*2269G>A SNV Uncertain significance 881203 GRCh37: 13:95057740-95057740
GRCh38: 13:94405486-94405486
33 GPC6 NM_005708.5(GPC6):c.*2305C>T SNV Uncertain significance 881204 GRCh37: 13:95057776-95057776
GRCh38: 13:94405522-94405522
34 GPC6 NM_005708.5(GPC6):c.*2455C>T SNV Uncertain significance 881205 GRCh37: 13:95057926-95057926
GRCh38: 13:94405672-94405672
35 GPC6 NM_005708.5(GPC6):c.*4424T>G SNV Uncertain significance 881255 GRCh37: 13:95059895-95059895
GRCh38: 13:94407641-94407641
36 GPC6 NM_005708.5(GPC6):c.-478C>G SNV Uncertain significance 881529 GRCh37: 13:93879232-93879232
GRCh38: 13:93226979-93226979
37 GPC6 NM_005708.5(GPC6):c.1289+13C>T SNV Uncertain significance 881581 GRCh37: 13:95034817-95034817
GRCh38: 13:94382563-94382563
38 GPC6 NM_005708.5(GPC6):c.1436A>G (p.Asn479Ser) SNV Uncertain significance 881582 GRCh37: 13:95050866-95050866
GRCh38: 13:94398612-94398612
39 GPC6 NM_005708.5(GPC6):c.*1375C>T SNV Uncertain significance 881622 GRCh37: 13:95056846-95056846
GRCh38: 13:94404592-94404592
40 GPC6 NM_005708.5(GPC6):c.*2582C>G SNV Uncertain significance 881671 GRCh37: 13:95058053-95058053
GRCh38: 13:94405799-94405799
41 GPC6 NM_005708.5(GPC6):c.*2646T>G SNV Uncertain significance 881672 GRCh37: 13:95058117-95058117
GRCh38: 13:94405863-94405863
42 GPC6 NM_005708.5(GPC6):c.*2791G>T SNV Uncertain significance 881673 GRCh37: 13:95058262-95058262
GRCh38: 13:94406008-94406008
43 GPC6 NM_005708.5(GPC6):c.*3031G>A SNV Uncertain significance 881674 GRCh37: 13:95058502-95058502
GRCh38: 13:94406248-94406248
44 GPC6 NM_005708.5(GPC6):c.*3118A>G SNV Uncertain significance 881675 GRCh37: 13:95058589-95058589
GRCh38: 13:94406335-94406335
45 GPC6 NM_005708.5(GPC6):c.-248G>A SNV Uncertain significance 882693 GRCh37: 13:93879462-93879462
GRCh38: 13:93227209-93227209
46 GPC6 NM_005708.5(GPC6):c.-113G>A SNV Uncertain significance 882694 GRCh37: 13:93879597-93879597
GRCh38: 13:93227344-93227344
47 GPC6 NM_005708.5(GPC6):c.1512C>T (p.Asp504=) SNV Uncertain significance 882731 GRCh37: 13:95055315-95055315
GRCh38: 13:94403061-94403061
48 GPC6 NM_005708.5(GPC6):c.1566C>T (p.Pro522=) SNV Uncertain significance 882732 GRCh37: 13:95055369-95055369
GRCh38: 13:94403115-94403115
49 GPC6 NM_005708.5(GPC6):c.*22A>G SNV Uncertain significance 882733 GRCh37: 13:95055493-95055493
GRCh38: 13:94403239-94403239
50 GPC6 NM_005708.5(GPC6):c.*1457C>G SNV Uncertain significance 882784 GRCh37: 13:95056928-95056928
GRCh38: 13:94404674-94404674

Copy number variations for Omodysplasia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 79804 13 77800000 98100000 Deletion or duplication 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
12.45 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
2
Show member pathways
12.31 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
3
Show member pathways
12.31 SLC26A2 HS2ST1 GPC6 GPC5 GPC4 GPC3
4
Show member pathways
12.2 GPC6 GPC5 GPC3 GPC2 GPC1 FZD2
5
Show member pathways
12.19 GPC6 GPC5 GPC3 GPC2 GPC1
6
Show member pathways
11.96 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
7 11.87 ROR2 GPC4 FZD2
8
Show member pathways
11.26 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
9 10.93 ROR2 FZD2
10 10.88 ROR2 FZD2

GO Terms for Omodysplasia

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 TUBGCP6 TMEM263 SLC26A2 ROR2 MITD1 HS2ST1
2 cell surface GO:0009986 9.87 ROR2 GPC6 GPC5 GPC4 GPC3 GPC2
3 collagen-containing extracellular matrix GO:0062023 9.85 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
4 anchored component of membrane GO:0031225 9.73 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
5 Golgi lumen GO:0005796 9.63 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 ROR2 FZD2
7 lysosomal lumen GO:0043202 9.43 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
8 anchored component of plasma membrane GO:0046658 9.1 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 9.85 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
2 retinoid metabolic process GO:0001523 9.8 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
3 regulation of signal transduction GO:0009966 9.73 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.71 ROR2 GPC6 GPC4 FZD2
5 positive regulation of canonical Wnt signaling pathway GO:0090263 9.65 ROR2 GPC5 GPC3
6 glycosaminoglycan catabolic process GO:0006027 9.63 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1
7 regulation of canonical Wnt signaling pathway GO:0060828 9.51 ROR2 GPC3
8 glycosaminoglycan biosynthetic process GO:0006024 9.5 HS2ST1 GPC6 GPC5 GPC4 GPC3 GPC2
9 regulation of presynapse assembly GO:1905606 9.49 GPC6 GPC4
10 synaptic membrane adhesion GO:0099560 9.46 GPC6 GPC4
11 regulation of neurotransmitter receptor localization to postsynaptic specialization membrane GO:0098696 9.43 GPC6 GPC4
12 regulation of protein localization to membrane GO:1905475 9.1 GPC6 GPC5 GPC4 GPC3 GPC2 GPC1

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

# Name GO ID Score Top Affiliating Genes
1 Wnt-protein binding GO:0017147 8.96 ROR2 FZD2
2 coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway GO:1904929 8.8 ROR2 GPC6 GPC4

Sources for Omodysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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