OFD15
MCID: ORF045
MIFTS: 23

Orofaciodigital Syndrome Xv (OFD15)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Orofaciodigital Syndrome Xv

MalaCards integrated aliases for Orofaciodigital Syndrome Xv:

Name: Orofaciodigital Syndrome Xv 58 76 30 6
Ofds Xv 58 76
Ofd15 58 76
Oral-Facial-Digital Syndrome, Type Xv 58
Oro-Facio-Digital Syndrome, Xv 76
Orofaciodigital Syndrome 15 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 patient (last curated september 2016)


HPO:

33
orofaciodigital syndrome xv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Xv

UniProtKB/Swiss-Prot : 76 Orofaciodigital syndrome 15: A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD15 features include facial dysmorphism, lobulated tongue, clefting of the alveolar ridges, left hand postaxial polydactyly, broad right hallux and left hallux duplication, and intermittent respiratory difficulty. Brain anomalies include vermis hypoplasia with molar tooth sign, agenesis of corpus callosum, and ventricular dilation. OFD15 inheritance is autosomal recessive.

MalaCards based summary : Orofaciodigital Syndrome Xv, is also known as ofds xv. An important gene associated with Orofaciodigital Syndrome Xv is KIAA0753 (KIAA0753). Affiliated tissues include tongue and brain, and related phenotypes are hypertelorism and agenesis of corpus callosum

Description from OMIM: 617127

Related Diseases for Orofaciodigital Syndrome Xv

Symptoms & Phenotypes for Orofaciodigital Syndrome Xv

Human phenotypes related to Orofaciodigital Syndrome Xv:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 agenesis of corpus callosum 33 HP:0001274
3 wide nasal bridge 33 HP:0000431
4 anteverted nares 33 HP:0000463
5 flat face 33 HP:0012368
6 ventriculomegaly 33 HP:0002119
7 molar tooth sign on mri 33 HP:0002419
8 broad hallux 33 HP:0010055
9 lobulated tongue 33 HP:0000180

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
straight palpebral fissures

Skeletal Feet:
broad hallux
duplication of hallux

Neurologic Central Nervous System:
agenesis of the corpus callosum
molar tooth sign
dilated ventricles
vermis hypoplasia

Head And Neck Ears:
low-set left ear

Genitourinary Kidneys:
bilateral hydronephrosis

Head And Neck Nose:
wide nasal bridge
upturned nares

Head And Neck Mouth:
lobulated tongue
clefting of alveolar ridges

Head And Neck Face:
flat facial profile

Respiratory:
intermittent respiratory difficulties

Skeletal Hands:
postaxial polydactyly, unilateral

Clinical features from OMIM:

617127

Drugs & Therapeutics for Orofaciodigital Syndrome Xv

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xv

Genetic Tests for Orofaciodigital Syndrome Xv

Genetic tests related to Orofaciodigital Syndrome Xv:

# Genetic test Affiliating Genes
1 Orofaciodigital Syndrome Xv 30 KIAA0753

Anatomical Context for Orofaciodigital Syndrome Xv

MalaCards organs/tissues related to Orofaciodigital Syndrome Xv:

42
Tongue, Brain

Publications for Orofaciodigital Syndrome Xv

Variations for Orofaciodigital Syndrome Xv

ClinVar genetic disease variations for Orofaciodigital Syndrome Xv:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KIAA0753 NM_014804.2(KIAA0753): c.1891A> T (p.Lys631Ter) single nucleotide variant Pathogenic rs886038200 GRCh37 Chromosome 17, 6510529: 6510529
2 KIAA0753 NM_014804.2(KIAA0753): c.1891A> T (p.Lys631Ter) single nucleotide variant Pathogenic rs886038200 GRCh38 Chromosome 17, 6607209: 6607209
3 KIAA0753 NM_014804.2(KIAA0753): c.1546-3C> A single nucleotide variant Pathogenic rs886038201 GRCh37 Chromosome 17, 6513483: 6513483
4 KIAA0753 NM_014804.2(KIAA0753): c.1546-3C> A single nucleotide variant Pathogenic rs886038201 GRCh38 Chromosome 17, 6610163: 6610163

Expression for Orofaciodigital Syndrome Xv

Search GEO for disease gene expression data for Orofaciodigital Syndrome Xv.

Pathways for Orofaciodigital Syndrome Xv

GO Terms for Orofaciodigital Syndrome Xv

Sources for Orofaciodigital Syndrome Xv

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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