OMOD1
MCID: OMD001
MIFTS: 35

Omodysplasia 1 (OMOD1)

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

Aliases & Classifications for Omodysplasia 1

MalaCards integrated aliases for Omodysplasia 1:

Name: Omodysplasia 1 57 12 20 72 13
Autosomal Recessive Omodysplasia 58 29 6
Omod1 57 20 72
Omodysplasia Autosomal Recessive 20 72
Omodysplasia Generalized Form 20 72
Omodysplasia Type 1 44 70
Micromelic Dysplasia, Congenital, with Dislocation of Radius 57
Micromelic Dysplasia Congenital with Dislocation of Radius 72
Micromelic Dysplasia Congenita with Dislocation of Radius 20
Micromelic Dysplasia-Dislocation of Radius Syndrome 58
Omodysplasia, Autosomal Recessive 57
Omodysplasia, Generalized Form 57
Omodysplasia, Type 1 39

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
autosomal dominant omodysplasia has also been described


HPO:

31
omodysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Omodysplasia 1

OMIM® : 57 Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007). (258315) (Updated 05-Apr-2021)

MalaCards based summary : Omodysplasia 1, also known as autosomal recessive omodysplasia, is related to omodysplasia and dwarfism. An important gene associated with Omodysplasia 1 is GPC6 (Glypican 6). Affiliated tissues include dorsal root ganglion, and related phenotypes are frontal bossing and depressed nasal bridge

Disease Ontology : 12 An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has material basis in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.

UniProtKB/Swiss-Prot : 72 Omodysplasia 1: A rare autosomal recessive skeletal dysplasia characterized by facial dysmorphism and severe congenital micromelia with shortening and distal tapering of the humeri and femora, to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin.

Related Diseases for Omodysplasia 1

Diseases in the Omodysplasia family:

Omodysplasia 2 Omodysplasia 1

Diseases related to Omodysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 omodysplasia 30.6 GPC6-AS2 GPC6
2 dwarfism 10.2
3 down syndrome 10.1
4 diastrophic dysplasia 10.1
5 rhizomelic syndrome 10.1
6 hydrocephalus 10.1
7 oligohydramnios 10.1
8 craniosynostosis 10.1

Graphical network of the top 20 diseases related to Omodysplasia 1:



Diseases related to Omodysplasia 1

Symptoms & Phenotypes for Omodysplasia 1

Human phenotypes related to Omodysplasia 1:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
5 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
6 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
7 elbow dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003042
8 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
9 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
10 abnormality of the radius 58 31 hallmark (90%) Very frequent (99-80%) HP:0002818
11 hypoplastic distal humeri 58 31 hallmark (90%) Very frequent (99-80%) HP:0005025
12 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
13 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
14 abnormality of femur morphology 58 31 frequent (33%) Frequent (79-30%) HP:0002823
15 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
16 mesomelia 58 31 frequent (33%) Frequent (79-30%) HP:0003027
17 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
18 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
19 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
20 increased nuchal translucency 58 31 occasional (7.5%) Occasional (29-5%) HP:0010880
21 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
22 pterygium 58 31 occasional (7.5%) Occasional (29-5%) HP:0001059
23 abnormality of cardiovascular system morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0030680
24 short neck 31 HP:0000470
25 wide nasal bridge 31 HP:0000431
26 umbilical hernia 31 HP:0001537
27 short stature 58 Very frequent (99-80%)
28 flat face 31 HP:0012368
29 epicanthus 31 HP:0000286
30 atrial septal defect 31 HP:0001631
31 malar flattening 31 HP:0000272
32 ventricular septal defect 31 HP:0001629
33 blepharophimosis 31 HP:0000581
34 hemangioma 31 HP:0001028
35 pulmonary artery stenosis 31 HP:0004415
36 disproportionate short-limb short stature 31 HP:0008873
37 fibular hypoplasia 31 HP:0003038
38 short tibia 31 HP:0005736
39 short humerus 31 HP:0005792
40 popliteal pterygium 31 HP:0009756
41 increased fibular diameter 31 HP:0012107
42 narrow palpebral fissure 31 HP:0045025
43 limited hip movement 31 HP:0008800
44 limited knee extension 31 HP:0003066
45 limited knee flexion/extension 31 HP:0005085
46 limited elbow flexion/extension 31 HP:0005060
47 limited knee flexion 31 HP:0006389
48 axillary pterygium 31 HP:0001060
49 anterolateral radial head dislocation 31 HP:0005050

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
frontal bossing
flat face
micrognathia
long philtrum

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge
small nose

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Limbs:
hypoplastic distal humeri
limited knee flexion/extension
limited elbow flexion/extension
rhizomelic limb shortening
radioulnar diastasis
more
Cardiovascular Heart:
ventricular septal defect (vsd)
atria septal defect (asd)

Growth Height:
dwarfism, micromelic

Skin Nails Hair Skin:
hemangiomas (facial, glabellar)
small pterygia (axillary, popliteal)

Head And Neck Neck:
short neck

Abdomen External Features:
umbilical hernia

Cardiovascular Vascular:
pulmonary artery stenosis

Head And Neck Eyes:
epicanthal folds
narrow palpebral fissures

Head And Neck Mouth:
thin vermilion

Skeletal Pelvis:
limited hip motion

Clinical features from OMIM®:

258315 (Updated 05-Apr-2021)

Drugs & Therapeutics for Omodysplasia 1

Search Clinical Trials , NIH Clinical Center for Omodysplasia 1

Cochrane evidence based reviews: omodysplasia type 1

Genetic Tests for Omodysplasia 1

Genetic tests related to Omodysplasia 1:

# Genetic test Affiliating Genes
1 Autosomal Recessive Omodysplasia 29 GPC6

Anatomical Context for Omodysplasia 1

MalaCards organs/tissues related to Omodysplasia 1:

40
Dorsal Root Ganglion

Publications for Omodysplasia 1

Articles related to Omodysplasia 1:

(show all 15)
# Title Authors PMID Year
1
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. 57 6
19481194 2009
2
Omodysplasia: the first reported Brazilian case. 57
17823719 2007
3
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. 57
15887278 2005
4
Recessive omodysplasia: five new cases and review of the literature. 57
14566439 2004
5
Anaesthesia in a child with autosomal recessive omodysplasia. 57
11261917 2001
6
Autosomal-recessive omodysplasia: prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones. 57
9508243 1998
7
Nosology of omodysplasia. 57
8533851 1995
8
Autosomal recessive omodysplasia. 57
7486832 1995
9
Autosomal recessive omodysplasia. 57
7735505 1995
10
Parental consanguinity in two sibs with omodysplasia. 57
8209882 1994
11
Familial congenital micromelic dysplasia with dislocation of radius and distinct face: a new skeletal dysplasia syndrome. 57
1867270 1991
12
Omodysplasia. 57
2729357 1989
13
Familial rhizomelic dysplasia: phenotypic variation or heterogeneity? 57
3591839 1987
14
Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling. 61
28696225 2017
15
Single-channel properties of recombinant acid-sensitive ion channels formed by the subunits ASIC2 and ASIC3 from dorsal root ganglion neurons expressed in Xenopus oocytes. 61
11382806 2001

Variations for Omodysplasia 1

ClinVar genetic disease variations for Omodysplasia 1:

6 (show top 50) (show all 128)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPC6 NM_005708.5(GPC6):c.778del (p.Leu260fs) Deletion Pathogenic 5549 rs863223282 GRCh37: 13:94680049-94680049
GRCh38: 13:94027795-94027795
2 GPC6 NC_000013.11:g.93997007_94063501del66495insATAAATCACTTAGAGATGT Indel Pathogenic 5550 GRCh37: 13:94649261-94715755
GRCh38: 13:93997007-94063501
3 GPC6 NC_000013.11:g.94252984_94352299del99316insCTA Indel Pathogenic 5551 GRCh37: 13:94905238-95004553
GRCh38: 13:94252984-94352299
4 GPC6-AS2 , GPC6 NM_005708.5(GPC6):c.700C>T (p.Arg234Ter) SNV Pathogenic 5552 rs121908440 GRCh37: 13:94482787-94482787
GRCh38: 13:93830534-93830534
5 GPC6 NM_005708.3(GPC6):c.712_877dup Duplication Pathogenic 5553 GRCh37:
GRCh38: 13:94011504-94038749
6 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
7 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
8 GPC6 NM_005708.5(GPC6):c.1129G>A (p.Ala377Thr) SNV Uncertain significance 287156 rs779691812 GRCh37: 13:94958354-94958354
GRCh38: 13:94306100-94306100
9 GPC6 NM_005708.5(GPC6):c.*134A>G SNV Uncertain significance 312557 rs187678452 GRCh37: 13:95055605-95055605
GRCh38: 13:94403351-94403351
10 GPC6 NM_005708.5(GPC6):c.*3869A>G SNV Uncertain significance 312603 rs886050364 GRCh37: 13:95059340-95059340
GRCh38: 13:94407086-94407086
11 GPC6 NM_005708.5(GPC6):c.49C>A (p.Leu17Ile) SNV Uncertain significance 312538 rs748464893 GRCh37: 13:93879758-93879758
GRCh38: 13:93227505-93227505
12 GPC6 NM_005708.5(GPC6):c.*3716A>T SNV Uncertain significance 312600 rs886050363 GRCh37: 13:95059187-95059187
GRCh38: 13:94406933-94406933
13 GPC6 NM_005708.5(GPC6):c.*1610A>C SNV Uncertain significance 312583 rs189449594 GRCh37: 13:95057081-95057081
GRCh38: 13:94404827-94404827
14 GPC6 NM_005708.5(GPC6):c.*1472G>C SNV Uncertain significance 312580 rs562122626 GRCh37: 13:95056943-95056943
GRCh38: 13:94404689-94404689
15 GPC6 NM_005708.5(GPC6):c.1216A>G (p.Ile406Val) SNV Uncertain significance 312546 rs760752648 GRCh37: 13:95034731-95034731
GRCh38: 13:94382477-94382477
16 GPC6 NM_005708.5(GPC6):c.-442C>T SNV Uncertain significance 312530 rs886050348 GRCh37: 13:93879268-93879268
GRCh38: 13:93227015-93227015
17 GPC6 NM_005708.5(GPC6):c.*1169T>C SNV Uncertain significance 312572 rs886050353 GRCh37: 13:95056640-95056640
GRCh38: 13:94404386-94404386
18 GPC6 NM_005708.5(GPC6):c.*522G>A SNV Uncertain significance 312566 rs886050351 GRCh37: 13:95055993-95055993
GRCh38: 13:94403739-94403739
19 GPC6 NM_005708.5(GPC6):c.1601G>A (p.Arg534His) SNV Uncertain significance 312555 rs142131323 GRCh37: 13:95055404-95055404
GRCh38: 13:94403150-94403150
20 GPC6 NM_005708.5(GPC6):c.161-4G>T SNV Uncertain significance 312539 rs886050349 GRCh37: 13:94197512-94197512
GRCh38: 13:93545259-93545259
21 GPC6 NM_005708.5(GPC6):c.-69C>T SNV Uncertain significance 312536 rs533965995 GRCh37: 13:93879641-93879641
GRCh38: 13:93227388-93227388
22 GPC6 NM_005708.5(GPC6):c.*4476A>G SNV Uncertain significance 312609 rs886050366 GRCh37: 13:95059947-95059947
GRCh38: 13:94407693-94407693
23 GPC6 NM_005708.5(GPC6):c.*135T>C SNV Uncertain significance 312558 rs373108111 GRCh37: 13:95055606-95055606
GRCh38: 13:94403352-94403352
24 GPC6 NM_005708.5(GPC6):c.*2852C>G SNV Uncertain significance 312595 rs886050360 GRCh37: 13:95058323-95058323
GRCh38: 13:94406069-94406069
25 GPC6 NM_005708.5(GPC6):c.*1419C>T SNV Uncertain significance 312578 rs184249476 GRCh37: 13:95056890-95056890
GRCh38: 13:94404636-94404636
26 GPC6 NM_005708.5(GPC6):c.*4236G>A SNV Uncertain significance 312607 rs569687072 GRCh37: 13:95059707-95059707
GRCh38: 13:94407453-94407453
27 GPC6 NM_005708.5(GPC6):c.1137A>C (p.Thr379=) SNV Uncertain significance 312544 rs747340600 GRCh37: 13:94958362-94958362
GRCh38: 13:94306108-94306108
28 GPC6 NM_005708.5(GPC6):c.1033A>G (p.Lys345Glu) SNV Uncertain significance 312542 rs773575076 GRCh37: 13:94958258-94958258
GRCh38: 13:94306004-94306004
29 GPC6 NM_005708.5(GPC6):c.*1800T>G SNV Uncertain significance 312587 rs886050357 GRCh37: 13:95057271-95057271
GRCh38: 13:94405017-94405017
30 GPC6 NM_005708.5(GPC6):c.*2240G>A SNV Uncertain significance 312590 rs559244686 GRCh37: 13:95057711-95057711
GRCh38: 13:94405457-94405457
31 GPC6 NM_005708.5(GPC6):c.*1188T>C SNV Uncertain significance 312573 rs577982355 GRCh37: 13:95056659-95056659
GRCh38: 13:94404405-94404405
32 GPC6 NM_005708.5(GPC6):c.*1026T>G SNV Uncertain significance 312570 rs535690035 GRCh37: 13:95056497-95056497
GRCh38: 13:94404243-94404243
33 GPC6 NM_005708.5(GPC6):c.1524G>A (p.Thr508=) SNV Uncertain significance 312553 rs767667871 GRCh37: 13:95055327-95055327
GRCh38: 13:94403073-94403073
34 GPC6 NM_005708.5(GPC6):c.-133G>T SNV Uncertain significance 312534 rs550165187 GRCh37: 13:93879577-93879577
GRCh38: 13:93227324-93227324
35 GPC6 NM_005708.5(GPC6):c.*3701G>A SNV Uncertain significance 312599 rs886050362 GRCh37: 13:95059172-95059172
GRCh38: 13:94406918-94406918
36 GPC6 NM_005708.5(GPC6):c.*1474A>G SNV Uncertain significance 312582 rs775211366 GRCh37: 13:95056945-95056945
GRCh38: 13:94404691-94404691
37 GPC6 NM_005708.5(GPC6):c.-23G>T SNV Uncertain significance 312537 rs574131434 GRCh37: 13:93879687-93879687
GRCh38: 13:93227434-93227434
38 GPC6 NM_005708.5(GPC6):c.*1439T>C SNV Uncertain significance 312579 rs117005708 GRCh37: 13:95056910-95056910
GRCh38: 13:94404656-94404656
39 GPC6 NM_005708.5(GPC6):c.*4239A>G SNV Uncertain significance 312608 rs886050365 GRCh37: 13:95059710-95059710
GRCh38: 13:94407456-94407456
40 GPC6 NM_005708.5(GPC6):c.1162A>G (p.Ile388Val) SNV Uncertain significance 312545 rs144734105 GRCh37: 13:95034677-95034677
GRCh38: 13:94382423-94382423
41 GPC6 NM_005708.5(GPC6):c.*1473T>C SNV Uncertain significance 312581 rs886050355 GRCh37: 13:95056944-95056944
GRCh38: 13:94404690-94404690
42 GPC6-AS2 , GPC6 NM_005708.5(GPC6):c.585C>T (p.Asp195=) SNV Uncertain significance 312540 rs369467067 GRCh37: 13:94482672-94482672
GRCh38: 13:93830419-93830419
43 GPC6 NM_005708.5(GPC6):c.*1983T>G SNV Uncertain significance 312588 rs557395539 GRCh37: 13:95057454-95057454
GRCh38: 13:94405200-94405200
44 GPC6 NM_005708.5(GPC6):c.1088G>A (p.Arg363His) SNV Uncertain significance 312543 rs765468152 GRCh37: 13:94958313-94958313
GRCh38: 13:94306059-94306059
45 GPC6 NM_005708.5(GPC6):c.*422A>G SNV Uncertain significance 312565 rs776540396 GRCh37: 13:95055893-95055893
GRCh38: 13:94403639-94403639
46 GPC6 NM_005708.5(GPC6):c.*2799G>A SNV Uncertain significance 312594 rs886050359 GRCh37: 13:95058270-95058270
GRCh38: 13:94406016-94406016
47 GPC6 NM_005708.5(GPC6):c.*2299A>G SNV Uncertain significance 312591 rs886050358 GRCh37: 13:95057770-95057770
GRCh38: 13:94405516-94405516
48 GPC6 NM_005708.5(GPC6):c.-100G>A SNV Uncertain significance 312535 rs535904928 GRCh37: 13:93879610-93879610
GRCh38: 13:93227357-93227357
49 GPC6 NM_005708.5(GPC6):c.-307T>A SNV Uncertain significance 312532 rs184142888 GRCh37: 13:93879403-93879403
GRCh38: 13:93227150-93227150
50 GPC6 NM_005708.5(GPC6):c.*3439T>C SNV Uncertain significance 312597 rs886050361 GRCh37: 13:95058910-95058910
GRCh38: 13:94406656-94406656

Expression for Omodysplasia 1

Search GEO for disease gene expression data for Omodysplasia 1.

Pathways for Omodysplasia 1

GO Terms for Omodysplasia 1

Sources for Omodysplasia 1

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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