OFD14
MCID: ORF036
MIFTS: 28

Orofaciodigital Syndrome Xiv (OFD14)

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 Xiv

MalaCards integrated aliases for Orofaciodigital Syndrome Xiv:

Name: Orofaciodigital Syndrome Xiv 57 29 6 72
Ofd14 57 53 59 74
Microcephaly-Cerebral Malformation-Orofaciodigital Syndrome 53 59
Oral-Facial-Digital Syndrome Type 14 53 59
Orofaciodigital Syndrome Type 14 53 59
Orofaciodigital Syndrome 14 53 74
Orofaciodigital Syndrome, Type Xiv 40

Characteristics:

Orphanet epidemiological data:

59
orofaciodigital syndrome type 14
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero


HPO:

32
orofaciodigital syndrome xiv:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

MeSH 44 D009958
ICD10 via Orphanet 34 Q87.0
Orphanet 59 ORPHA434179
UMLS 72 C4014780

Summaries for Orofaciodigital Syndrome Xiv

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 434179DefinitionOrofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Orofaciodigital Syndrome Xiv, is also known as ofd14. An important gene associated with Orofaciodigital Syndrome Xiv is C2CD3 (C2 Domain Containing 3 Centriole Elongation Regulator). Affiliated tissues include tongue, brain and bone, and related phenotypes are abnormal facial shape and microcephaly

UniProtKB/Swiss-Prot : 74 Orofaciodigital syndrome 14: 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. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features.

More information from OMIM: 615948 PS311200

Related Diseases for Orofaciodigital Syndrome Xiv

Symptoms & Phenotypes for Orofaciodigital Syndrome Xiv

Human phenotypes related to Orofaciodigital Syndrome Xiv:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 32 HP:0001999
2 microcephaly 32 HP:0000252
3 intellectual disability, severe 32 HP:0010864
4 cleft palate 32 HP:0000175
5 absent speech 32 HP:0001344
6 telecanthus 32 HP:0000506
7 trigonocephaly 32 HP:0000243
8 micropenis 32 HP:0000054
9 increased number of teeth 32 HP:0011069
10 upslanted palpebral fissure 32 HP:0000582
11 hypoplasia of the corpus callosum 32 HP:0002079
12 molar tooth sign on mri 32 HP:0002419
13 bifid tongue 32 HP:0010297
14 hamartoma of tongue 32 HP:0011802
15 lobulated tongue 32 HP:0000180
16 postaxial polydactyly 32 HP:0100259
17 aplasia of the epiglottis 32 HP:0008753
18 retinitis 32 HP:0032118

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysplastic ears

Skeletal Skull:
microcephaly

Head And Neck Face:
micrognathia
microretrognathia
facial dysmorphism

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Eyes:
telecanthus
optic nerve coloboma
retinal coloboma
retinitis
upslanting palpebral fissures

Genitourinary External Genitalia Male:
micropenis
epispadias

Skeletal Hands:
preaxial polydactyly
postaxial polydactyly

Skeletal Feet:
postaxial polydactyly
broad, duplicated halluces or triplicated halluces

Skeletal Pelvis:
trident acetabulum

Respiratory Lung:
atypical or absent lung lobation

Genitourinary Kidneys:
bilateral pelviectasis
ductal cysts

Neurologic Central Nervous System:
global developmental delay
intellectual disability, severe
cerebellar hypoplasia
dandy-walker malformation
holoprosencephaly
more
Head And Neck Mouth:
cleft palate
cleft lip
lobulated tongue
cleft tongue
maxillary alveolar clefting
more
Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
cardiac malformation

Head And Neck Head:
trigonocephaly
microcephaly (-5 sd)

Abdomen Gastrointestinal:
anteriorly placed anus
mobile cecum
feeding by gastrostomy tube

Chest Ribs Sternum Clavicles And Scapulae:
short ribs

Head And Neck Teeth:
supernumerary teeth
natal teeth

Respiratory Larynx:
absent epiglottis:

Abdomen Liver:
symmetrical liver

Skeletal Limbs:
short bent tubular bones

Clinical features from OMIM:

615948

Drugs & Therapeutics for Orofaciodigital Syndrome Xiv

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xiv

Genetic Tests for Orofaciodigital Syndrome Xiv

Genetic tests related to Orofaciodigital Syndrome Xiv:

# Genetic test Affiliating Genes
1 Orofaciodigital Syndrome Xiv 29 C2CD3

Anatomical Context for Orofaciodigital Syndrome Xiv

MalaCards organs/tissues related to Orofaciodigital Syndrome Xiv:

41
Tongue, Brain, Bone, Liver, Lung

Publications for Orofaciodigital Syndrome Xiv

Articles related to Orofaciodigital Syndrome Xiv:

# Title Authors PMID Year
1
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. 38 8 71
30097616 2018
2
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 8 71
24997988 2014
3
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. 38 8
27094867 2016
4
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 8
26477546 2015

Variations for Orofaciodigital Syndrome Xiv

ClinVar genetic disease variations for Orofaciodigital Syndrome Xiv:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 C2CD3 NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs587777653 11:73879530-73879530 11:74168485-74168485
2 C2CD3 NM_001286577.1(C2CD3): c.3085T> G (p.Cys1029Gly) single nucleotide variant Pathogenic rs587777654 11:73806348-73806348 11:74095303-74095303
3 C2CD3 NM_001286577.1(C2CD3): c.3911-2A> T single nucleotide variant Pathogenic rs149366137 11:73796017-73796017 11:74084972-74084972
4 C2CD3 NM_001286577.1(C2CD3): c.1365+1G> A single nucleotide variant Pathogenic 11:73834032-73834032 11:74122987-74122987
5 C2CD3 NM_001286577.1(C2CD3): c.5090+5G> C single nucleotide variant Pathogenic 11:73768446-73768446 11:74057401-74057401
6 C2CD3 NM_001286577.1(C2CD3): c.6968G> A (p.Arg2323His) single nucleotide variant Uncertain significance rs958229850 11:73724524-73724524 11:74013479-74013479

UniProtKB/Swiss-Prot genetic disease variations for Orofaciodigital Syndrome Xiv:

74
# Symbol AA change Variation ID SNP ID
1 C2CD3 p.Cys1029Gly VAR_071196 rs587777654

Expression for Orofaciodigital Syndrome Xiv

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

Pathways for Orofaciodigital Syndrome Xiv

GO Terms for Orofaciodigital Syndrome Xiv

Sources for Orofaciodigital Syndrome Xiv

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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