MCID: ORF028
MIFTS: 19

Orofacial Cleft 10

Categories: Genetic diseases, Fetal diseases, Rare diseases, Oral diseases

Aliases & Classifications for Orofacial Cleft 10

MalaCards integrated aliases for Orofacial Cleft 10:

Name: Orofacial Cleft 10 54 24 71 29 13
Ofc10 24 71
Non-Syndromic Cleft Lip with or Without Cleft Palate 10 71
Non-Syndromic Cleft Lip/palate 10 71
Non-Syndromic Orofacial Cleft 10 71

Classifications:



External Ids:

OMIM 54 613705
MedGen 40 C1866070
MeSH 42 D002971
SNOMED-CT via HPO 65 304067009

Summaries for Orofacial Cleft 10

UniProtKB/Swiss-Prot : 71 Non-syndromic orofacial cleft 10: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

MalaCards based summary : Orofacial Cleft 10, is also known as ofc10, and has symptoms including unilateral cleft lip and unilateral cleft palate. An important gene associated with Orofacial Cleft 10 is SUMO1 (Small Ubiquitin-Like Modifier 1). The drugs Ethanol and Folic Acid have been mentioned in the context of this disorder.

Description from OMIM: 613705

Related Diseases for Orofacial Cleft 10

Symptoms & Phenotypes for Orofacial Cleft 10

Clinical features from OMIM:

613705

Human phenotypes related to Orofacial Cleft 10:

32
id Description HPO Frequency HPO Source Accession
1 unilateral cleft lip 32 HP:0100333
2 unilateral cleft palate 32 HP:0100334

Drugs & Therapeutics for Orofacial Cleft 10

Drugs for Orofacial Cleft 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved 64-17-5 702
2
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3
leucovorin Approved, Nutraceutical 58-05-9 143 6006
4 Vitamin B Complex
5 Folate Nutraceutical
6 Vitamin B9 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068
2 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638

Search NIH Clinical Center for Orofacial Cleft 10

Genetic Tests for Orofacial Cleft 10

Genetic tests related to Orofacial Cleft 10:

id Genetic test Affiliating Genes
1 Orofacial Cleft 10 29 24 SUMO1

Anatomical Context for Orofacial Cleft 10

Publications for Orofacial Cleft 10

Variations for Orofacial Cleft 10

ClinVar genetic disease variations for Orofacial Cleft 10:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SUMO1 SUMO1, DEL deletion Pathogenic

Expression for Orofacial Cleft 10

Search GEO for disease gene expression data for Orofacial Cleft 10.

Pathways for Orofacial Cleft 10

GO Terms for Orofacial Cleft 10

Sources for Orofacial Cleft 10

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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