OMOD2
MCID: OMD002
MIFTS: 28

Omodysplasia 2 (OMOD2)

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

Aliases & Classifications for Omodysplasia 2

MalaCards integrated aliases for Omodysplasia 2:

Name: Omodysplasia 2 57 12 20 72 44 70
Omodysplasia, Autosomal Dominant 57 20 72
Autosomal Dominant Omodysplasia 58 29 6
Omod2 57 20 72
Omodysplasia, Type 2 39
Omodysplasia Type 2 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant omodysplasia
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
omodysplasia 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080845
OMIM® 57 164745
OMIM Phenotypic Series 57 PS258315
SNOMED-CT 67 725165009
ICD10 via Orphanet 33 Q78.8
UMLS via Orphanet 71 C2750355
Orphanet 58 ORPHA93328
MedGen 41 C2750355
UMLS 70 C2750355

Summaries for Omodysplasia 2

OMIM® : 57 Omodysplasia-2 is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies (Saal et al., 2015). For a discussion of genetic heterogeneity of OMOD, see 258315. (164745) (Updated 20-May-2021)

MalaCards based summary : Omodysplasia 2, also known as omodysplasia, autosomal dominant, is related to omodysplasia and osteochondrodysplasia. An important gene associated with Omodysplasia 2 is FZD2 (Frizzled Class Receptor 2). Affiliated tissues include uterus and dorsal root ganglion, and related phenotypes are cryptorchidism and elbow dislocation

Disease Ontology : 12 An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has material basis in heterozygous mutation in the FZD2 gene on chromosome 17q21.

UniProtKB/Swiss-Prot : 72 Omodysplasia 2: A rare autosomal dominant skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies.

Wikipedia : 73 Omodysplasia type 2 is a very rare genetic disorder characterised by abnormalities in the skull, long... more...

Related Diseases for Omodysplasia 2

Diseases in the Omodysplasia family:

Omodysplasia 2 Omodysplasia 1

Diseases related to Omodysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 omodysplasia 11.1
2 osteochondrodysplasia 10.3
3 hypertelorism 10.1
4 alacrima, achalasia, and mental retardation syndrome 10.1
5 robinow syndrome 10.1
6 cleft lip 10.1
7 cleft lip/palate 10.1

Graphical network of the top 20 diseases related to Omodysplasia 2:



Diseases related to Omodysplasia 2

Symptoms & Phenotypes for Omodysplasia 2

Human phenotypes related to Omodysplasia 2:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
2 elbow dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0003042
3 short 1st metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010034
4 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
5 short humerus 58 31 hallmark (90%) Very frequent (99-80%) HP:0005792
6 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
7 depressed nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0005280
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
10 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
11 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
12 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
13 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
14 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
15 patellar dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002999
16 ambiguous genitalia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000062
17 short palm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004279
18 micropenis 31 HP:0000054
19 hypospadias 31 HP:0000047
20 dislocated radial head 31 HP:0003083
21 bifid nasal tip 31 HP:0000456
22 rhizomelic arm shortening 31 HP:0004991
23 hypoplastic distal humeri 31 HP:0005025
24 limited elbow flexion/extension 31 HP:0005060

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
long philtrum

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Hands:
short first metacarpal

Genitourinary External Genitalia Female:
hypoplastic genitalia

Head And Neck Nose:
depressed nasal bridge
cleft palate
bifid nasal tip
cleft lip

Skeletal Limbs:
rhizomelic arm shortening
hypoplastic distal humeri
limited elbow flexion/extension
short, curved humeri
dislocated radial head (anteriorly and laterally)
more
Genitourinary External Genitalia Male:
small penis

Genitourinary Internal Genitalia Female:
didelphic uterus

Clinical features from OMIM®:

164745 (Updated 20-May-2021)

Drugs & Therapeutics for Omodysplasia 2

Search Clinical Trials , NIH Clinical Center for Omodysplasia 2

Cochrane evidence based reviews: omodysplasia 2

Genetic Tests for Omodysplasia 2

Genetic tests related to Omodysplasia 2:

# Genetic test Affiliating Genes
1 Autosomal Dominant Omodysplasia 29 FZD2

Anatomical Context for Omodysplasia 2

MalaCards organs/tissues related to Omodysplasia 2:

40
Uterus, Dorsal Root Ganglion

Publications for Omodysplasia 2

Articles related to Omodysplasia 2:

# Title Authors PMID Year
1
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. 6 57
25759469 2015
2
Long-term observation of a patient with dominant omodysplasia. 57
24458798 2014
3
Omodysplasia: an affected mother and son. 57
12210345 2002
4
Omodysplasia. 57
2729357 1989
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
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 2

ClinVar genetic disease variations for Omodysplasia 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FZD2 NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) SNV Pathogenic 617609 rs1568105666 GRCh37: 17:42636700-42636700
GRCh38: 17:44559332-44559332

UniProtKB/Swiss-Prot genetic disease variations for Omodysplasia 2:

72
# Symbol AA change Variation ID SNP ID
1 FZD2 p.Gly434Val VAR_081993 rs155565707

Expression for Omodysplasia 2

Search GEO for disease gene expression data for Omodysplasia 2.

Pathways for Omodysplasia 2

GO Terms for Omodysplasia 2

Sources for Omodysplasia 2

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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