MCID: ORF028
MIFTS: 15

Orofacial Cleft 10

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 10

MalaCards integrated aliases for Orofacial Cleft 10:

Name: Orofacial Cleft 10 57 75 29 13 6
Ofc10 57 75
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 10 57
Non-Syndromic Cleft Lip with or Without Cleft Palate 10 75
Non-Syndromic Cleft Lip/palate 10 75
Non-Syndromic Orofacial Cleft 10 75
Orofacial Cleft, Type 10 40

Characteristics:

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
based on a report of 1 patient


Classifications:



External Ids:

OMIM 57 613705
MedGen 42 C1866070
MeSH 44 D002971
SNOMED-CT via HPO 69 304067009

Summaries for Orofacial Cleft 10

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Orofacial Cleft 10 is SUMO1 (Small Ubiquitin-Like Modifier 1). Related phenotypes are unilateral cleft lip and unilateral cleft palate

Description from OMIM: 613705

Related Diseases for Orofacial Cleft 10

Symptoms & Phenotypes for Orofacial Cleft 10

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft lip, unilateral
cleft palate, unilateral

Laboratory Abnormalities:
karyotype 46,xx,t(2,8)(q33.1,q24.3)


Clinical features from OMIM:

613705

Human phenotypes related to Orofacial Cleft 10:

32
# 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

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 29 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....