MCID: OPH014
MIFTS: 19

Ophthalmomandibulomelic Dysplasia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ophthalmomandibulomelic Dysplasia

MalaCards integrated aliases for Ophthalmomandibulomelic Dysplasia:

Name: Ophthalmomandibulomelic Dysplasia 53 55 69
Omm Syndrome 53 55
Pillay Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
ophthalmomandibulomelic dysplasia
Prevalence: <1/1000000 (Worldwide);

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
ophthalmomandibulomelic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ophthalmomandibulomelic Dysplasia

MalaCards based summary : Ophthalmomandibulomelic Dysplasia, also known as omm syndrome, is related to pillay syndrome, and has symptoms including corneal opacity, blindness and micromelia. Affiliated tissues include bone and eye.

Description from OMIM: 164900

Related Diseases for Ophthalmomandibulomelic Dysplasia

Diseases related to Ophthalmomandibulomelic Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pillay syndrome 11.0

Symptoms & Phenotypes for Ophthalmomandibulomelic Dysplasia

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
blindness
megalocornea
corneal opacities

Skeletal Hands:
ulnar deviated club hands
decreased mobility 3rd-5th fingers

Chest RibsSternum Clavicles And Scapulae:
shallow glenoid fossa

Skeletal Pelvis:
coxa valga

Skeletal Limbs:
lateral humeral condyle aplasia
short fibula
mesomelia (upper limbs)
radiohumeral dislocation
proximal radioulnar dislocation
more
Skeletal Skull:
temporomandibular joint fusion
obtuse mandibular angle
absent coronoid process


Clinical features from OMIM:

164900

Human phenotypes related to Ophthalmomandibulomelic Dysplasia:

55 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 corneal opacity 55 31 hallmark (90%) Very frequent (99-80%) HP:0007957
2 blindness 55 31 hallmark (90%) Very frequent (99-80%) HP:0000618
3 micromelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002983
4 megalocornea 55 31 occasional (7.5%) Occasional (29-5%) HP:0000485
5 limitation of joint mobility 55 31 hallmark (90%) Very frequent (99-80%) HP:0001376
6 glaucoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000501
7 elbow dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0003042
8 radioulnar synostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002974
9 abnormality of bone mineral density 55 31 hallmark (90%) Very frequent (99-80%) HP:0004348
10 synostosis of carpal bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0005048
11 camptodactyly of finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0100490
12 symphalangism affecting the phalanges of the hand 55 31 hallmark (90%) Very frequent (99-80%) HP:0009773
13 aplasia/hypoplasia of the radius 55 31 hallmark (90%) Very frequent (99-80%) HP:0006501
14 mesomelia 55 31 hallmark (90%) Very frequent (99-80%) HP:0003027
15 temporomandibular joint ankylosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0012478
16 obtuse angle of mandible 55 31 hallmark (90%) Very frequent (99-80%) HP:0005446
17 ulnar deviated club hands 55 31 hallmark (90%) Very frequent (99-80%) HP:0006055
18 radioulnar dislocation 55 31 hallmark (90%) Very frequent (99-80%) HP:0006439
19 lateral humeral condyle aplasia 55 31 hallmark (90%) Very frequent (99-80%) HP:0006441
20 opacification of the corneal stroma 31 HP:0007759
21 coxa valga 31 HP:0002673
22 abnormality of the thorax 31 HP:0000765
23 fibular hypoplasia 31 HP:0003038
24 radial bowing 31 HP:0002986
25 decreased mobility 3rd-5th fingers 31 HP:0006169

Drugs & Therapeutics for Ophthalmomandibulomelic Dysplasia

Search Clinical Trials , NIH Clinical Center for Ophthalmomandibulomelic Dysplasia

Genetic Tests for Ophthalmomandibulomelic Dysplasia

Anatomical Context for Ophthalmomandibulomelic Dysplasia

MalaCards organs/tissues related to Ophthalmomandibulomelic Dysplasia:

38
Bone, Eye

Publications for Ophthalmomandibulomelic Dysplasia

Variations for Ophthalmomandibulomelic Dysplasia

Expression for Ophthalmomandibulomelic Dysplasia

Search GEO for disease gene expression data for Ophthalmomandibulomelic Dysplasia.

Pathways for Ophthalmomandibulomelic Dysplasia

GO Terms for Ophthalmomandibulomelic Dysplasia

Sources for Ophthalmomandibulomelic Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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