OFD10
MCID: ORF041
MIFTS: 25

Orofaciodigital Syndrome X (OFD10)

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 X

MalaCards integrated aliases for Orofaciodigital Syndrome X:

Name: Orofaciodigital Syndrome X 58 12 54 45 74
Orofaciodigital Syndrome with Fibular Aplasia 58 12 54 60
Ofd10 58 12 54 60
Oral-Facial-Digital Syndrome with Fibular Aplasia 58 54
Orofaciodigital Syndrome Type Figuera 54
Oral-Facial-Digital Syndrome, Type X 58
Oral Facial Digital Syndrome Type 10 54
Oral-Facial-Digital Syndrome Type 10 60
Orofaciodigital Syndrome Type 10 60
Oral Facial Digital Syndrome 10 54
Oral-Facial-Digital Syndrome 10 54
Orofaciodigital Syndrome 10 54
Figuera Syndrome 60
Ofd Syndrome 10 54
Ofds 10 54
Ofds X 58

Characteristics:

Orphanet epidemiological data:

60
orofaciodigital syndrome type 10
Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
orofaciodigital syndrome x:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060380
OMIM 58 165590
MeSH 45 C563491
ICD10 34 Q87.0
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C1833796
Orphanet 60 ORPHA2756
MedGen 43 C1833796
UMLS 74 C1833796

Summaries for Orofaciodigital Syndrome X

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2756Disease definitionOral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome X, also known as orofaciodigital syndrome with fibular aplasia, is related to orofaciodigital syndrome. The drugs Calamus and Bilirubin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are depressed nasal bridge and cleft palate

Disease Ontology : 12 An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones.

Description from OMIM: 165590

Related Diseases for Orofaciodigital Syndrome X

Symptoms & Phenotypes for Orofaciodigital Syndrome X

Human phenotypes related to Orofaciodigital Syndrome X:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 depressed nasal bridge 33 HP:0005280
2 cleft palate 33 HP:0000175
3 retrognathia 33 HP:0000278
4 telecanthus 33 HP:0000506
5 preaxial hand polydactyly 33 HP:0001177
6 fibular aplasia 33 HP:0002990
7 coalescence of tarsal bones 33 HP:0005802
8 hand oligodactyly 33 HP:0001180

Symptoms via clinical synopsis from OMIM:

58
Mouth:
cleft palate
retrognathia
vestibular frenula

Limbs:
oligodactyly
fibular aplasia
preaxial polydactyly
radial shortening
coalescence of tarsal bones

Facies:
telecanthus

Nose:
flat nasal bridge

Clinical features from OMIM:

165590

Drugs & Therapeutics for Orofaciodigital Syndrome X

Drugs for Orofaciodigital Syndrome X (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calamus Not Applicable
2
Bilirubin Not Applicable 635-65-4, 69853-43-6 5280352 21252250

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Treatment of Cranial Molding Deformities in Preterm Infants Completed NCT02366936 Not Applicable

Search NIH Clinical Center for Orofaciodigital Syndrome X

Cochrane evidence based reviews: orofaciodigital syndrome x

Genetic Tests for Orofaciodigital Syndrome X

Anatomical Context for Orofaciodigital Syndrome X

MalaCards organs/tissues related to Orofaciodigital Syndrome X:

42
Bone

Publications for Orofaciodigital Syndrome X

Articles related to Orofaciodigital Syndrome X:

# Title Authors Year
1
Oral-facial-digital syndrome with fibular aplasia: a new variant. ( 8261648 )
1993

Variations for Orofaciodigital Syndrome X

Expression for Orofaciodigital Syndrome X

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

Pathways for Orofaciodigital Syndrome X

GO Terms for Orofaciodigital Syndrome X

Sources for Orofaciodigital Syndrome X

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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