OMOD2
MCID: OMD002
MIFTS: 25

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 58 54 76 30 6 74
Omodysplasia, Autosomal Dominant 58 54 76
Omod2 58 54 76
Autosomal Dominant Omodysplasia 60
Omodysplasia Type 2 77

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant omodysplasia
Inheritance: Autosomal dominant;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
autosomal recessive omodysplasia has also been described


HPO:

33
omodysplasia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 164745
MeSH 45 D010009
ICD10 via Orphanet 35 Q78.8
UMLS via Orphanet 75 C2750355
Orphanet 60 ORPHA93328
MedGen 43 C2750355
UMLS 74 C2750355

Summaries for Omodysplasia 2

OMIM : 58 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)

MalaCards based summary : Omodysplasia 2, also known as omodysplasia, autosomal dominant, is related to omodysplasia and robinow syndrome. An important gene associated with Omodysplasia 2 is FZD2 (Frizzled Class Receptor 2). Affiliated tissues include bone, and related phenotypes are cryptorchidism and rhizomelia

UniProtKB/Swiss-Prot : 76 Omodysplasia 2: A rare autosomal dominant skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies.

Wikipedia : 77 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 11.4
2 robinow syndrome 10.2

Symptoms & Phenotypes for Omodysplasia 2

Human phenotypes related to Omodysplasia 2:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
2 rhizomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008905
3 elbow dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0003042
4 short 1st metacarpal 60 33 hallmark (90%) Very frequent (99-80%) HP:0010034
5 short humerus 60 33 hallmark (90%) Very frequent (99-80%) HP:0005792
6 malar flattening 60 33 frequent (33%) Frequent (79-30%) HP:0000272
7 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
8 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
9 depressed nasal bridge 60 33 frequent (33%) Frequent (79-30%) HP:0005280
10 short nose 60 33 frequent (33%) Frequent (79-30%) HP:0003196
11 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
12 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
13 bifid scrotum 60 33 frequent (33%) Frequent (79-30%) HP:0000048
14 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
15 short palm 60 33 occasional (7.5%) Occasional (29-5%) HP:0004279
16 patellar dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002999
17 ambiguous genitalia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000062
18 hypospadias 33 HP:0000047
19 micropenis 33 HP:0000054
20 dislocated radial head 33 HP:0003083
21 bifid nasal tip 33 HP:0000456
22 rhizomelic arm shortening 33 HP:0004991
23 hypoplastic distal humeri 33 HP:0005025
24 limited elbow flexion/extension 33 HP:0005060

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Face:
frontal bossing
long philtrum

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Limbs:
rhizomelic arm shortening
hypoplastic distal humeri
short, curved humeri
dislocated radial head (anteriorly and laterally)
limited elbow flexion/extension
more
Head And Neck Nose:
depressed nasal bridge
bifid nasal tip

Genitourinary External Genitalia Male:
hypospadias
small penis

Skeletal Hands:
short first metacarpal

Clinical features from OMIM:

164745

Drugs & Therapeutics for Omodysplasia 2

Search Clinical Trials , NIH Clinical Center for Omodysplasia 2

Genetic Tests for Omodysplasia 2

Genetic tests related to Omodysplasia 2:

# Genetic test Affiliating Genes
1 Omodysplasia 2 30 FZD2

Anatomical Context for Omodysplasia 2

MalaCards organs/tissues related to Omodysplasia 2:

42
Bone

Publications for Omodysplasia 2

Articles related to Omodysplasia 2:

# Title Authors Year
1
Nonsense mutations in FZD2 cause autosomal-dominant omodysplasia: Robinow syndrome-like phenotypes. ( 29383834 )
2018
2
Two unrelated patients with autosomal dominant omodysplasia and FRIZZLED2 mutations. ( 30455931 )
2018
3
A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia. ( 29230162 )
2017
4
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. ( 25759469 )
2015

Variations for Omodysplasia 2

ClinVar genetic disease variations for Omodysplasia 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FZD2 NM_001466.3(FZD2): c.1644G> A (p.Trp548Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 42636700: 42636700
2 FZD2 NM_001466.3(FZD2): c.1644G> A (p.Trp548Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 44559332: 44559332

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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