MCID: ORF031
MIFTS: 16

Orofacial Cleft 14

Categories: Fetal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Orofacial Cleft 14

MalaCards integrated aliases for Orofacial Cleft 14:

Name: Orofacial Cleft 14 57
Familial Median Cleft of the Upper and Lower Lips 59
Ofc14 57

Characteristics:

Orphanet epidemiological data:

59
familial median cleft of the upper and lower lips
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
orofacial cleft 14:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 615892
Orphanet 59 ORPHA401942
ICD10 via Orphanet 34 Q36.1
MedGen 42 C4014596
SNOMED-CT via HPO 69 258211005 35591002

Summaries for Orofacial Cleft 14

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

Description from OMIM: 615892

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

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 11.1

Symptoms & Phenotypes for Orofacial Cleft 14

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Orofacial Cleft 14:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 median cleft lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0000161
2 abnormality of the mandible 59 32 hallmark (90%) Very frequent (99-80%) HP:0000277
3 abnormality of the midface 59 32 hallmark (90%) Very frequent (99-80%) HP:0000309
4 abnormality of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000326
5 diastema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000699
6 cleft lower lip 59 32 hallmark (90%) Very frequent (99-80%) HP:0010281
7 fusion of gums 59 32 hallmark (90%) Very frequent (99-80%) HP:0012292
8 irregular dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0040079
9 abnormality of orbicularis oris muscle 59 32 hallmark (90%) Very frequent (99-80%) HP:3000010
10 cleft upper lip 59 Very frequent (99-80%)

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

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 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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