MCID: OPH014
MIFTS: 17

Ophthalmomandibulomelic Dysplasia

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ophthalmomandibulomelic Dysplasia

MalaCards integrated aliases for Ophthalmomandibulomelic Dysplasia:

Name: Ophthalmomandibulomelic Dysplasia 54 56 69
Pillay Syndrome 56
Omm Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
ophthalmomandibulomelic dysplasia
Prevalence: <1/1000000 (Worldwide);

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
ophthalmomandibulomelic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ophthalmomandibulomelic Dysplasia

MalaCards based summary : Ophthalmomandibulomelic Dysplasia, also known as pillay syndrome, is related to pillay syndrome, and has symptoms including glaucoma, megalocornea and elbow dislocation. 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:

id Related Disease Score Top Affiliating Genes
1 pillay syndrome 10.8

Symptoms & Phenotypes for Ophthalmomandibulomelic Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Pelvis:
coxa valga

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

Head And Neck- Eyes:
corneal opacities
megalocornea
blindness

Chest- Ribs Sternum Clavicles And Scapulae:
shallow glenoid fossa

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


Clinical features from OMIM:

164900

Human phenotypes related to Ophthalmomandibulomelic Dysplasia:

56 32 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 glaucoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000501
2 megalocornea 56 32 occasional (7.5%) Occasional (29-5%) HP:0000485
3 elbow dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0003042
4 blindness 56 32 hallmark (90%) Very frequent (99-80%) HP:0000618
5 radioulnar synostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002974
6 micromelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002983
7 mesomelia 56 32 hallmark (90%) Very frequent (99-80%) HP:0003027
8 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007957
9 radioulnar dislocation 56 32 hallmark (90%) Very frequent (99-80%) HP:0006439
10 lateral humeral condyle aplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0006441
11 ulnar deviated club hands 56 32 hallmark (90%) Very frequent (99-80%) HP:0006055
12 limitation of joint mobility 56 32 hallmark (90%) Very frequent (99-80%) HP:0001376
13 abnormality of bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0004348
14 synostosis of carpal bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0005048
15 camptodactyly of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0100490
16 symphalangism affecting the phalanges of the hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0009773
17 aplasia/hypoplasia of the radius 56 32 hallmark (90%) Very frequent (99-80%) HP:0006501
18 obtuse angle of mandible 56 32 hallmark (90%) Very frequent (99-80%) HP:0005446
19 temporomandibular joint ankylosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0012478
20 coxa valga 32 HP:0002673
21 radial bowing 32 HP:0002986
22 fibular hypoplasia 32 HP:0003038
23 decreased mobility 3rd-5th fingers 32 HP:0006169
24 opacification of the corneal stroma 32 HP:0007759
25 abnormality of the thorax 32 HP:0000765

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:

39
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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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