MCID: ORF047
MIFTS: 18

Orofacial Cleft 15

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 15

MalaCards integrated aliases for Orofacial Cleft 15:

Name: Orofacial Cleft 15 57 29 6
Ofc15 57 75
Non-Syndromic Orofacial Cleft 15 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
orofacial cleft 15:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Orofacial Cleft 15

UniProtKB/Swiss-Prot : 75 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 cryptorchidism and epicanthus

Description from OMIM: 616788

Related Diseases for Orofacial Cleft 15

Symptoms & Phenotypes for Orofacial Cleft 15

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Orofacial Cleft 15:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 epicanthus 32 HP:0000286
3 hypertelorism 32 HP:0000316
4 low-set ears 32 HP:0000369
5 protruding ear 32 HP:0000411
6 bulbous nose 32 HP:0000414
7 upslanted palpebral fissure 32 HP:0000582
8 sparse eyelashes 32 HP:0000653
9 single transverse palmar crease 32 HP:0000954
10 ectropion of lower eyelids 32 HP:0007651
11 high anterior hairline 32 HP:0009890
12 palate fistula 32 HP:0010294
13 midface retrusion 32 HP:0011800
14 euryblepharon 32 HP:0012905
15 sparse eyebrow 32 HP:0045075
16 hyponasal speech 32 HP:0100271
17 bilateral cleft lip 32 HP:0100336
18 bilateral cleft palate 32 HP:0100337
19 agenesis of lateral incisor 32 HP:0200153

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

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 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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