MCID: OMD002
MIFTS: 24

Omodysplasia 2

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

Aliases & Classifications for Omodysplasia 2

MalaCards integrated aliases for Omodysplasia 2:

Name: Omodysplasia 2 57 53 29 73
Omodysplasia, Autosomal Dominant 57 53
Omod2 57 53
Autosomal Dominant Omodysplasia 59
Omodysplasia Type 2 76

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant omodysplasia
Inheritance: Autosomal dominant;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
autosomal recessive omodysplasia has also been described


HPO:

32
omodysplasia 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 164745
Orphanet 59 ORPHA93328
ICD10 via Orphanet 34 Q78.8
UMLS via Orphanet 74 C2750355
MedGen 42 C2750355

Summaries for Omodysplasia 2

OMIM : 57 Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (258315). (164745)

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

Wikipedia : 76 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 11.2

Symptoms & Phenotypes for Omodysplasia 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
long philtrum

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Omodysplasia 2:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
2 bifid scrotum 59 32 frequent (33%) Frequent (79-30%) HP:0000048
3 ambiguous genitalia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000062
4 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
5 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
6 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
7 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
8 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
9 patellar dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002999
10 elbow dislocation 59 32 hallmark (90%) Very frequent (99-80%) HP:0003042
11 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
12 short palm 59 32 occasional (7.5%) Occasional (29-5%) HP:0004279
13 depressed nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0005280
14 short humerus 59 32 hallmark (90%) Very frequent (99-80%) HP:0005792
15 hypoplasia of penis 59 32 frequent (33%) Frequent (79-30%) HP:0008736
16 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
17 short 1st metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010034
18 hypospadias 32 HP:0000047
19 micropenis 32 HP:0000054
20 bifid nasal tip 32 HP:0000456
21 dislocated radial head 32 HP:0003083
22 rhizomelic arm shortening 32 HP:0004991
23 hypoplastic distal humeri 32 HP:0005025
24 limited elbow flexion/extension 32 HP:0005060

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 29

Anatomical Context for Omodysplasia 2

MalaCards organs/tissues related to Omodysplasia 2:

41
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
A Novel de novo<i>FZD2</i>Mutation in a Patient with Autosomal Dominant Omodysplasia. ( 29230162 )
2017
3
A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia. ( 25759469 )
2015

Variations for Omodysplasia 2

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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