OFC3
MCID: ORF049
MIFTS: 19

Orofacial Cleft 3 (OFC3)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 3

MalaCards integrated aliases for Orofacial Cleft 3:

Name: Orofacial Cleft 3 58 12 74
Orofacial Cleft-3 58 13
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 3 58
Nonsyndromic Cleft Lip with or Without Cleft Palate 3 12
Ofc3 58

Characteristics:

OMIM:

58
Inheritance:
? autosomal dominant (19q13)


Classifications:



External Ids:

Disease Ontology 12 DOID:0080397
OMIM 58 600757
MedGen 43 C1833369
UMLS 74 C1833369

Summaries for Orofacial Cleft 3

Disease Ontology : 12 An orofacial cleft that has material basis in variation in the chromosomal region 19q13.

MalaCards based summary : Orofacial Cleft 3, also known as orofacial cleft-3, is related to orofacial cleft and perrault syndrome 1. An important gene associated with Orofacial Cleft 3 is OFC3 (Orofacial Cleft 3). The drugs Omalizumab and Histamine have been mentioned in the context of this disorder. Related phenotype is abnormality of the face.

Description from OMIM: 600757

Related Diseases for Orofacial Cleft 3

Diseases in the Orofacial Cleft family:

Orofacial Cleft 1 Orofacial Cleft 11
Orofacial Cleft 3 Orofacial Cleft 2
Orofacial Cleft 4 Orofacial Cleft 6
Orofacial Cleft 5 Orofacial Cleft 9
Orofacial Cleft 12 Orofacial Cleft 10
Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 15 Orofacial Cleft 8

Diseases related to Orofacial Cleft 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofacial cleft 11.2
2 perrault syndrome 1 11.1

Symptoms & Phenotypes for Orofacial Cleft 3

Human phenotypes related to Orofacial Cleft 3:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the face 33 HP:0000271

Symptoms via clinical synopsis from OMIM:

58
Facies:
orofacial cleft

Clinical features from OMIM:

600757

Drugs & Therapeutics for Orofacial Cleft 3

Drugs for Orofacial Cleft 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omalizumab Approved, Investigational Phase 2 242138-07-4
2
Histamine Approved, Investigational Phase 2 51-45-6 774
3
Histamine Phosphate Phase 2 51-74-1 65513
4 Anti-Allergic Agents Phase 2
5 Anti-Asthmatic Agents Phase 2
6 Respiratory System Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Omalizumab in the Treatment of Peanut Allergy Completed NCT00949078 Phase 2 omalizumab

Search NIH Clinical Center for Orofacial Cleft 3

Genetic Tests for Orofacial Cleft 3

Anatomical Context for Orofacial Cleft 3

Publications for Orofacial Cleft 3

Variations for Orofacial Cleft 3

Expression for Orofacial Cleft 3

Search GEO for disease gene expression data for Orofacial Cleft 3.

Pathways for Orofacial Cleft 3

GO Terms for Orofacial Cleft 3

Sources for Orofacial Cleft 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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