MCID: OMD001
MIFTS: 30

Omodysplasia 1

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

Aliases & Classifications for Omodysplasia 1

MalaCards integrated aliases for Omodysplasia 1:

Name: Omodysplasia 1 57 53 75 29 13 6
Omod1 57 53 75
Omodysplasia Autosomal Recessive 53 75
Omodysplasia Generalized Form 53 75
Micromelic Dysplasia, Congenital, with Dislocation of Radius 57
Micromelic Dysplasia Congenital with Dislocation of Radius 75
Micromelic Dysplasia Congenita with Dislocation of Radius 53
Micromelic Dysplasia-Dislocation of Radius Syndrome 59
2-Fluoroethoxy-N-N-Propylnorapomorphine 44
Omodysplasia, Autosomal Recessive 57
Autosomal Recessive Omodysplasia 59
Omodysplasia, Generalized Form 57
Omodysplasia Type 1 73

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
autosomal dominant omodysplasia has also been described


HPO:

32
omodysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Omodysplasia 1, also known as omod1, is related to omodysplasia and omodysplasia 2. An important gene associated with Omodysplasia 1 is GPC6 (Glypican 6). Affiliated tissues include heart and bone, and related phenotypes are low-set ears and frontal bossing

UniProtKB/Swiss-Prot : 75 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 29.0 GPC6 GPC6-AS2
2 omodysplasia 2 10.9

Symptoms & Phenotypes for Omodysplasia 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Limbs:
limited knee flexion/extension
hypoplastic distal humeri
rhizomelic limb shortening
limited elbow flexion/extension
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 Face:
frontal bossing
long philtrum
micrognathia
flat face

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

Human phenotypes related to Omodysplasia 1:

59 32 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
5 short nose 59 32 occasional (7.5%) Occasional (29-5%) HP:0003196
6 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
7 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
8 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
9 abnormality of the metaphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000944
10 hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100790
11 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
12 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
13 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
14 abnormality of femur morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002823
15 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042
16 increased nuchal translucency 59 32 occasional (7.5%) Occasional (29-5%) HP:0010880
17 craniosynostosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001363
18 pterygium 59 32 occasional (7.5%) Occasional (29-5%) HP:0001059
19 abnormality of cardiovascular system morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0030680
20 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
21 mesomelia 59 32 frequent (33%) Frequent (79-30%) HP:0003027
22 abnormality of the radius 59 32 hallmark (90%) Very frequent (99-80%) HP:0002818
23 hypoplastic distal humeri 59 32 hallmark (90%) Very frequent (99-80%) HP:0005025
24 malar flattening 32 HP:0000272
25 short neck 32 HP:0000470
26 wide nasal bridge 32 HP:0000431
27 umbilical hernia 32 HP:0001537
28 short stature 59 Very frequent (99-80%)
29 epicanthus 32 HP:0000286
30 flat face 32 HP:0012368
31 atrial septal defect 32 HP:0001631
32 ventricular septal defect 32 HP:0001629
33 blepharophimosis 32 HP:0000581
34 disproportionate short-limb short stature 32 HP:0008873
35 pulmonary artery stenosis 32 HP:0004415
36 fibular hypoplasia 32 HP:0003038
37 short tibia 32 HP:0005736
38 hemangioma 32 HP:0001028
39 short humerus 32 HP:0005792
40 popliteal pterygium 32 HP:0009756
41 axillary pterygia 32 HP:0001060
42 increased fibular diameter 32 HP:0012107
43 limited knee flexion/extension 32 HP:0005085
44 limited hip movement 32 HP:0008800
45 limited elbow flexion/extension 32 HP:0005060
46 anterolateral radial head dislocation 32 HP:0005050

Drugs & Therapeutics for Omodysplasia 1

Search Clinical Trials , NIH Clinical Center for Omodysplasia 1

Cochrane evidence based reviews: 2-fluoroethoxy-n-n-propylnorapomorphine

Genetic Tests for Omodysplasia 1

Genetic tests related to Omodysplasia 1:

# Genetic test Affiliating Genes
1 Omodysplasia 1 29 GPC6

Anatomical Context for Omodysplasia 1

MalaCards organs/tissues related to Omodysplasia 1:

41
Heart, Bone

Publications for Omodysplasia 1

Articles related to Omodysplasia 1:

# Title Authors Year
1
Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. ( 15887278 )
2005
2
Anaesthesia in a child with autosomal recessive omodysplasia. ( 11261917 )
2001
3
Autosomal-recessive omodysplasia: prenatal diagnosis and histomorphometric assessment of the physeal plates of the long bones. ( 9508243 )
1998
4
Autosomal recessive omodysplasia: report of three additional cases. ( 9716634 )
1998
5
Autosomal recessive omodysplasia. ( 7486832 )
1995
6
Autosomal recessive omodysplasia. ( 7735505 )
1995

Variations for Omodysplasia 1

ClinVar genetic disease variations for Omodysplasia 1:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 GPC6 NM_005708.4(GPC6): c.778delC (p.Leu260Phefs) deletion Pathogenic rs863223282 GRCh38 Chromosome 13, 94027795: 94027795
2 GPC6 NM_005708.4(GPC6): c.778delC (p.Leu260Phefs) deletion Pathogenic rs863223282 GRCh37 Chromosome 13, 94680049: 94680049
3 GPC6 NC_000013.11 indel Pathogenic GRCh38 Chromosome 13, 93997007: 94063501
4 GPC6 NC_000013.11 indel Pathogenic NCBI36 Chromosome 13, 93447262: 93513756
5 GPC6 NC_000013.11 indel Pathogenic GRCh37 Chromosome 13, 94649261: 94715755
6 GPC6 NC_000013.11: g.94252984_94352299del99316insCTA indel Pathogenic GRCh37 Chromosome 13, 94905238: 95004553
7 GPC6 NC_000013.11: g.94252984_94352299del99316insCTA indel Pathogenic GRCh38 Chromosome 13, 94252984: 94352299
8 GPC6 NC_000013.11: g.94252984_94352299del99316insCTA indel Pathogenic NCBI36 Chromosome 13, 93703239: 93802554
9 GPC6 NM_005708.4(GPC6): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs121908440 GRCh37 Chromosome 13, 94482787: 94482787
10 GPC6 NM_005708.4(GPC6): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs121908440 GRCh38 Chromosome 13, 93830534: 93830534
11 GPC6 NM_005708.3(GPC6): c.712_877dup166 duplication Pathogenic GRCh38 Chromosome 13, 94011504: 94038749
12 GPC6 NM_005708.3(GPC6): c.320_711del392 deletion Pathogenic GRCh38 Chromosome 13, 93741318: 93830948
13 GPC6 NM_005708.3(GPC6): c.320_711del392 deletion Pathogenic GRCh38 Chromosome 13, 93603313: 93860330

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 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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