OFC
MCID: ORF048
MIFTS: 17

Orofacial Cleft 1 (OFC)

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 1

MalaCards integrated aliases for Orofacial Cleft 1:

Name: Orofacial Cleft 1 57 73
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 1 57
Orofacial Cleft, Nonsyndromic; Ofc 57
Cleft Lip/palate, Nonsyndromic 57
Orofacial Cleft, Nonsyndromic 57
Otofaciocervical Syndrome 1 73
Orofacial Cleft-1 57
Ofc1 57
Ofc 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity, probably determined by major and minor genes, environmental factors, and developmental threshold
divided into isolated cases (75-80%), familial (10-15%), and syndromal (1-5%)


HPO:

32
orofacial cleft 1:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

OMIM 57 119530
MedGen 42 C1861537

Summaries for Orofacial Cleft 1

MalaCards based summary : Orofacial Cleft 1, also known as cleft lip with or without cleft palate, nonsyndromic, 1, is related to otofaciocervical syndrome 1 and orofacial cleft. An important gene associated with Orofacial Cleft 1 is OFC1 (Orofacial Cleft 1). Related phenotypes are cleft palate and cleft upper lip

Description from OMIM: 119530

Related Diseases for Orofacial Cleft 1

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

Diseases related to Orofacial Cleft 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 otofaciocervical syndrome 1 11.1
2 orofacial cleft 9.0 OFC1 OFCC1

Symptoms & Phenotypes for Orofacial Cleft 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
nonsyndromic cleft lip with or without cleft palate


Clinical features from OMIM:

119530

Human phenotypes related to Orofacial Cleft 1:

32
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 cleft upper lip 32 HP:0000204

Drugs & Therapeutics for Orofacial Cleft 1

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 1

Genetic Tests for Orofacial Cleft 1

Anatomical Context for Orofacial Cleft 1

Publications for Orofacial Cleft 1

Variations for Orofacial Cleft 1

Expression for Orofacial Cleft 1

Search GEO for disease gene expression data for Orofacial Cleft 1.

Pathways for Orofacial Cleft 1

GO Terms for Orofacial Cleft 1

Sources for Orofacial Cleft 1

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
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