MCID: MDF001
MIFTS: 11

Midface Dysplasia

Categories: Bone diseases

Aliases & Classifications for Midface Dysplasia

MalaCards integrated aliases for Midface Dysplasia:

Name: Midface Dysplasia 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050767

Summaries for Midface Dysplasia

Disease Ontology : 12 An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele.

MalaCards based summary : Midface Dysplasia is related to enophthalmos and acute hemorrhagic conjunctivitis. An important gene associated with Midface Dysplasia is C20orf203 (Chromosome 20 Open Reading Frame 203), and among its related pathways/superpathways is Defensins. Affiliated tissues include bone.

Related Diseases for Midface Dysplasia

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

# Related Disease Score Top Affiliating Genes
1 enophthalmos 9.7 EPB41L1 C20orf203
2 acute hemorrhagic conjunctivitis 9.7 BPIFB6 BPIFB3

Symptoms & Phenotypes for Midface Dysplasia

Drugs & Therapeutics for Midface Dysplasia

Search Clinical Trials , NIH Clinical Center for Midface Dysplasia

Genetic Tests for Midface Dysplasia

Anatomical Context for Midface Dysplasia

MalaCards organs/tissues related to Midface Dysplasia:

40
Bone

Publications for Midface Dysplasia

Articles related to Midface Dysplasia:

# Title Authors PMID Year
1
Facial clefts involving the midline in combination with intracranial anomalies: case studies illustrating surgical treatment and medical substitution. 61
22747354 2012
2
Prosthetic reconstruction in the cleft lip and palate patient with an extracoronal resilient attachment retained removable partial overdenture: case report. 61
10418227 1999
3
Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation. 61
9805135 1998

Variations for Midface Dysplasia

Expression for Midface Dysplasia

Search GEO for disease gene expression data for Midface Dysplasia.

Pathways for Midface Dysplasia

Pathways related to Midface Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.13 BPIFB6 BPIFB4 BPIFB2

GO Terms for Midface Dysplasia

Cellular components related to Midface Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.02 BPIFB6 BPIFB4 BPIFB3 BPIFB2 BPIFA3

Molecular functions related to Midface Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.02 BPIFB6 BPIFB4 BPIFB3 BPIFB2 BPIFA3

Sources for Midface Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....