MCID: ORF045
MIFTS: 22

Orofaciodigital Syndrome Xv

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

Aliases & Classifications for Orofaciodigital Syndrome Xv

MalaCards integrated aliases for Orofaciodigital Syndrome Xv:

Name: Orofaciodigital Syndrome Xv 57 75 6
Ofds Xv 57 75
Ofd15 57 75
Oral-Facial-Digital Syndrome, Type Xv 57
Oro-Facio-Digital Syndrome, Xv 75
Orofaciodigital Syndrome 15 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
orofaciodigital syndrome xv:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Xv

UniProtKB/Swiss-Prot : 75 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 lobulated tongue and hypertelorism

Description from OMIM: 617127

Related Diseases for Orofaciodigital Syndrome Xv

Symptoms & Phenotypes for Orofaciodigital Syndrome Xv

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Orofaciodigital Syndrome Xv:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 lobulated tongue 32 HP:0000180
2 hypertelorism 32 HP:0000316
3 wide nasal bridge 32 HP:0000431
4 anteverted nares 32 HP:0000463
5 agenesis of corpus callosum 32 HP:0001274
6 ventriculomegaly 32 HP:0002119
7 molar tooth sign on mri 32 HP:0002419
8 broad hallux 32 HP:0010055
9 flat face 32 HP:0012368

Drugs & Therapeutics for Orofaciodigital Syndrome Xv

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xv

Genetic Tests for Orofaciodigital Syndrome Xv

Anatomical Context for Orofaciodigital Syndrome Xv

MalaCards organs/tissues related to Orofaciodigital Syndrome Xv:

41
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 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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