OFC14
MCID: ORF031
MIFTS: 17

Orofacial Cleft 14 (OFC14)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 14

MalaCards integrated aliases for Orofacial Cleft 14:

Name: Orofacial Cleft 14 57 12
Familial Median Cleft of the Upper and Lower Lips 58
Ofc14 57

Characteristics:

Orphanet epidemiological data:

58
familial median cleft of the upper and lower lips
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous turkish family has been reported (last curated july 2014)


HPO:

31
orofacial cleft 14:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080407
OMIM® 57 615892
OMIM Phenotypic Series 57 PS119530
ICD10 via Orphanet 33 Q36.1
Orphanet 58 ORPHA401942
MedGen 41 C4014596
SNOMED-CT via HPO 68 258211005 35591002

Summaries for Orofacial Cleft 14

Disease Ontology : 12 An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.

MalaCards based summary : Orofacial Cleft 14, also known as familial median cleft of the upper and lower lips, is related to orofacial cleft. An important gene associated with Orofacial Cleft 14 is OFC14 (Orofacial Cleft 14). Related phenotypes are median cleft lip and abnormality of the mandible

More information from OMIM: 615892 PS119530

Related Diseases for Orofacial Cleft 14

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 14 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 orofacial cleft 10.9

Symptoms & Phenotypes for Orofacial Cleft 14

Human phenotypes related to Orofacial Cleft 14:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 median cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000161
2 abnormality of the mandible 58 31 hallmark (90%) Very frequent (99-80%) HP:0000277
3 abnormality of the midface 58 31 hallmark (90%) Very frequent (99-80%) HP:0000309
4 abnormality of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000326
5 diastema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000699
6 cleft lower lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0010281
7 fusion of gums 58 31 hallmark (90%) Very frequent (99-80%) HP:0012292
8 irregular dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0040079
9 abnormality of orbicularis oris muscle 58 31 hallmark (90%) Very frequent (99-80%) HP:3000010
10 cleft upper lip 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
incomplete median cleft of the upper lip involving the muscle
incomplete median cleft of the lower lip
double labial frenulum
fusion of the upper labial mucosa and the upper gingiva
palate is unaffected

Head And Neck Teeth:
poor dental alignment
increased interdental distance between the upper and lower median incisors

Clinical features from OMIM®:

615892 (Updated 05-Apr-2021)

Drugs & Therapeutics for Orofacial Cleft 14

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 14

Genetic Tests for Orofacial Cleft 14

Anatomical Context for Orofacial Cleft 14

Publications for Orofacial Cleft 14

Articles related to Orofacial Cleft 14:

# Title Authors PMID Year
1
A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family. 57
23860042 2014
2
Damage to Orbitofrontal Areas 12 and 13, but Not Area 14, Results in Blunted Attention and Arousal to Socioemotional Stimuli in Rhesus Macaques. 61
33093825 2020

Variations for Orofacial Cleft 14

Expression for Orofacial Cleft 14

Search GEO for disease gene expression data for Orofacial Cleft 14.

Pathways for Orofacial Cleft 14

GO Terms for Orofacial Cleft 14

Sources for Orofacial Cleft 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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