MCID: ORF028
MIFTS: 14

Orofacial Cleft 10

Categories: Genetic diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Orofacial Cleft 10

MalaCards integrated aliases for Orofacial Cleft 10:

Name: Orofacial Cleft 10 53 71 28 13
Ofc10 53 71
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 10 53
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 53 613705
MedGen 39 C1866070
MeSH 41 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).

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:

31
# Description HPO Frequency HPO Source Accession
1 unilateral cleft lip 31 HP:0100333
2 unilateral cleft palate 31 HP:0100334

Drugs & Therapeutics for Orofacial Cleft 10

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 10

Genetic Tests for Orofacial Cleft 10

Genetic tests related to Orofacial Cleft 10:

# Genetic test Affiliating Genes
1 Orofacial Cleft 10 28 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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