OFC15
MCID: ORF047
MIFTS: 24

Orofacial Cleft 15 (OFC15)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 15

MalaCards integrated aliases for Orofacial Cleft 15:

Name: Orofacial Cleft 15 56 12 29 6 15
Ofc15 56 73
Non-Syndromic Orofacial Cleft 15 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
based on report of a hispanic mother and son (last curated february 2016)


HPO:

31
orofacial cleft 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080408
OMIM 56 616788
OMIM Phenotypic Series 56 PS119530
MeSH 43 D002971

Summaries for Orofacial Cleft 15

UniProtKB/Swiss-Prot : 73 Non-syndromic orofacial cleft 15: 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. OFC15 inheritance is autosomal dominant.

MalaCards based summary : Orofacial Cleft 15, also known as ofc15, is related to 3mc syndrome and cleft lip/palate. An important gene associated with Orofacial Cleft 15 is DLX4 (Distal-Less Homeobox 4). Related phenotypes are hypertelorism and low-set ears

Disease Ontology : 12 An orofacial cleft that has material basis in mutation in the DLX4 gene on chromosome 17q21.

More information from OMIM: 616788 PS119530

Related Diseases for Orofacial Cleft 15

Graphical network of the top 20 diseases related to Orofacial Cleft 15:



Diseases related to Orofacial Cleft 15

Symptoms & Phenotypes for Orofacial Cleft 15

Human phenotypes related to Orofacial Cleft 15:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 low-set ears 31 HP:0000369
3 cryptorchidism 31 HP:0000028
4 midface retrusion 31 HP:0011800
5 protruding ear 31 HP:0000411
6 epicanthus 31 HP:0000286
7 upslanted palpebral fissure 31 HP:0000582
8 bulbous nose 31 HP:0000414
9 high anterior hairline 31 HP:0009890
10 bilateral cleft lip 31 HP:0100336
11 single transverse palmar crease 31 HP:0000954
12 ectropion of lower eyelids 31 HP:0007651
13 sparse eyebrow 31 HP:0045075
14 sparse eyelashes 31 HP:0000653
15 palate fistula 31 HP:0010294
16 bilateral cleft palate 31 HP:0100337
17 agenesis of lateral incisor 31 HP:0200153
18 euryblepharon 31 HP:0012905
19 hyponasal speech 31 HP:0100271

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
sparse eyelashes
euryblepharon
epicanthal folds
upslanting palpebral fissures
more
Head And Neck Face:
high anterior hairline
midface hypoplasia

Voice:
hyponasal speech

Head And Neck Nose:
bulbous nasal tip

Head And Neck Teeth:
anterior crossbite
absence of lateral incisors

Head And Neck Mouth:
cleft lip, bilateral
cleft palate, bilateral

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
high anterior hairline

Head And Neck Ears:
prominent ears

Abdomen External Features:
bilateral inguinal hernia

Skin Nails Hair Skin:
single palmar creases

Clinical features from OMIM:

616788

Drugs & Therapeutics for Orofacial Cleft 15

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 15

Genetic Tests for Orofacial Cleft 15

Genetic tests related to Orofacial Cleft 15:

# Genetic test Affiliating Genes
1 Orofacial Cleft 15 29 DLX4

Anatomical Context for Orofacial Cleft 15

Publications for Orofacial Cleft 15

Articles related to Orofacial Cleft 15:

# Title Authors PMID Year
1
DLX4 is associated with orofacial clefting and abnormal jaw development. 56 6
25954033 2015

Variations for Orofacial Cleft 15

ClinVar genetic disease variations for Orofacial Cleft 15:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DLX4 NM_138281.3(DLX4):c.546del (p.Gln183fs)deletion Pathogenic 221288 rs869025279 17:48051125-48051125 17:49973761-49973761

Expression for Orofacial Cleft 15

Search GEO for disease gene expression data for Orofacial Cleft 15.

Pathways for Orofacial Cleft 15

GO Terms for Orofacial Cleft 15

Cellular components related to Orofacial Cleft 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibrillar center GO:0001650 8.62 WDR43 SPECC1

Sources for Orofacial Cleft 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....