OFC15
MCID: ORF047
MIFTS: 19

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 58 12 30 6
Ofc15 58 76
Non-Syndromic Orofacial Cleft 15 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
orofacial cleft 15:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Orofacial Cleft 15

UniProtKB/Swiss-Prot : 76 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, is also known as ofc15. 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.

Description from OMIM: 616788

Related Diseases for Orofacial Cleft 15

Symptoms & Phenotypes for Orofacial Cleft 15

Human phenotypes related to Orofacial Cleft 15:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 epicanthus 33 HP:0000286
4 cryptorchidism 33 HP:0000028
5 protruding ear 33 HP:0000411
6 upslanted palpebral fissure 33 HP:0000582
7 bulbous nose 33 HP:0000414
8 midface retrusion 33 HP:0011800
9 bilateral cleft lip 33 HP:0100336
10 single transverse palmar crease 33 HP:0000954
11 high anterior hairline 33 HP:0009890
12 ectropion of lower eyelids 33 HP:0007651
13 sparse eyebrow 33 HP:0045075
14 sparse eyelashes 33 HP:0000653
15 euryblepharon 33 HP:0012905
16 hyponasal speech 33 HP:0100271
17 agenesis of lateral incisor 33 HP:0200153
18 palate fistula 33 HP:0010294
19 bilateral cleft palate 33 HP:0100337

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
sparse eyelashes
euryblepharon
epicanthal folds
upslanting palpebral fissures
more
Head And Neck Face:
high anterior hairline
midface hypoplasia

Head And Neck Ears:
prominent ears

Abdomen External Features:
bilateral inguinal hernia

Skin Nails Hair Skin:
single palmar creases

Voice:
hyponasal speech

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
high anterior hairline

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

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 30 DLX4

Anatomical Context for Orofacial Cleft 15

Publications for Orofacial Cleft 15

Articles related to Orofacial Cleft 15:

# Title Authors Year
1
DLX4 is associated with orofacial clefting and abnormal jaw development. ( 25954033 )
2015

Variations for Orofacial Cleft 15

ClinVar genetic disease variations for Orofacial Cleft 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DLX4 NM_138281.2(DLX4): c.546delG (p.Gln183Argfs) deletion Pathogenic rs869025279 GRCh38 Chromosome 17, 49973766: 49973766
2 DLX4 NM_138281.2(DLX4): c.546delG (p.Gln183Argfs) deletion Pathogenic rs869025279 GRCh37 Chromosome 17, 48051130: 48051130

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

Sources for Orofacial Cleft 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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