OFD15
MCID: ORF045
MIFTS: 21

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, Skin diseases, Smell/Taste diseases

Aliases & Classifications for Orofaciodigital Syndrome Xv

MalaCards integrated aliases for Orofaciodigital Syndrome Xv:

Name: Orofaciodigital Syndrome Xv 57 72 29 6
Ofds Xv 57 72
Ofd15 57 72
Oral-Facial-Digital Syndrome, Type Xv 57
Oro-Facio-Digital Syndrome, Xv 72
Orofaciodigital Syndrome 15 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
orofaciodigital syndrome xv:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617127
OMIM Phenotypic Series 57 PS311200
MeSH 44 D009958

Summaries for Orofaciodigital Syndrome Xv

UniProtKB/Swiss-Prot : 72 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 related phenotypes are agenesis of corpus callosum and hypertelorism

More information from OMIM: 617127 PS311200

Related Diseases for Orofaciodigital Syndrome Xv

Symptoms & Phenotypes for Orofaciodigital Syndrome Xv

Human phenotypes related to Orofaciodigital Syndrome Xv:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 hypertelorism 31 HP:0000316
3 wide nasal bridge 31 HP:0000431
4 anteverted nares 31 HP:0000463
5 flat face 31 HP:0012368
6 hydronephrosis 31 HP:0000126
7 ventriculomegaly 31 HP:0002119
8 molar tooth sign on mri 31 HP:0002419
9 lobulated tongue 31 HP:0000180
10 broad hallux 31 HP:0010055
11 postaxial polydactyly 31 HP:0100259

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
hypertelorism
straight palpebral fissures

Head And Neck Mouth:
lobulated tongue
clefting of alveolar ridges

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

Head And Neck Ears:
low-set left ear

Genitourinary Kidneys:
bilateral hydronephrosis

Head And Neck Nose:
wide nasal bridge
upturned nares

Skeletal Feet:
broad hallux
duplication of hallux

Head And Neck Face:
flat facial profile

Respiratory:
intermittent respiratory difficulties

Skeletal Hands:
postaxial polydactyly, unilateral

Clinical features from OMIM®:

617127 (Updated 05-Apr-2021)

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 29 KIAA0753

Anatomical Context for Orofaciodigital Syndrome Xv

MalaCards organs/tissues related to Orofaciodigital Syndrome Xv:

40
Tongue

Publications for Orofaciodigital Syndrome Xv

Articles related to Orofaciodigital Syndrome Xv:

# Title Authors PMID Year
1
OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. 6 57
26643951 2016

Variations for Orofaciodigital Syndrome Xv

ClinVar genetic disease variations for Orofaciodigital Syndrome Xv:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIAA0753 NM_014804.3(KIAA0753):c.1891A>T (p.Lys631Ter) SNV Pathogenic 254661 rs886038200 GRCh37: 17:6510529-6510529
GRCh38: 17:6607209-6607209
2 KIAA0753 NM_014804.3(KIAA0753):c.1546-3C>A SNV Pathogenic 254662 rs886038201 GRCh37: 17:6513483-6513483
GRCh38: 17:6610163-6610163
3 KIAA0753 NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter) SNV Likely pathogenic 620530 rs370840009 GRCh37: 17:6493229-6493229
GRCh38: 17:6589909-6589909
4 KIAA0753 NM_014804.3(KIAA0753):c.601C>T (p.His201Tyr) SNV Uncertain significance 1032640 GRCh37: 17:6531554-6531554
GRCh38: 17:6628234-6628234

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
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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