MCID: OPH014
MIFTS: 14

Ophthalmomandibulomelic Dysplasia malady

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ophthalmomandibulomelic Dysplasia

Aliases & Descriptions 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);

HPO:

32
ophthalmomandibulomelic dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 164900
Orphanet 56 ORPHA2741
ICD10 via Orphanet 34 Q87.8

Summaries for Ophthalmomandibulomelic Dysplasia

MalaCards based summary : Ophthalmomandibulomelic Dysplasia, also known as pillay 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:

id Related Disease Score Top Affiliating Genes
1 pillay syndrome 10.9

Symptoms & Phenotypes for Ophthalmomandibulomelic Dysplasia

Symptoms by clinical synopsis from OMIM:

164900

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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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