OFD14
MCID: ORF036
MIFTS: 30

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 56 29 6 71
Ofd14 56 52 58 73
Microcephaly-Cerebral Malformation-Orofaciodigital Syndrome 52 58
Oral-Facial-Digital Syndrome Type 14 52 58
Orofaciodigital Syndrome Type 14 52 58
Orofaciodigital Syndrome 14 52 73
Orofaciodigital Syndrome, Type Xiv 39

Characteristics:

Orphanet epidemiological data:

58
orofaciodigital syndrome type 14
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero


HPO:

31
orofaciodigital syndrome xiv:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Orofaciodigital Syndrome Xiv

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 434179 Definition Orofaciodigital 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 intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 73 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:

58 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
4 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
5 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
8 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
9 increased number of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0011069
10 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
11 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
12 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
13 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
14 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
15 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
16 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
17 sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0010535
18 microretrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000308
19 partial agenesis of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001338
20 epispadias 58 31 frequent (33%) Frequent (79-30%) HP:0000039
21 postaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001162
22 postaxial foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001830
23 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
24 trigonocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000243
25 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
26 molar tooth sign on mri 58 31 frequent (33%) Frequent (79-30%) HP:0002419
27 gastrostomy tube feeding in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0011471
28 accessory oral frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000191
29 bifid tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010297
30 hamartoma of tongue 58 31 frequent (33%) Frequent (79-30%) HP:0011802
31 lobulated tongue 58 31 frequent (33%) Frequent (79-30%) HP:0000180
32 retinal coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000480
33 bilateral cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0008689
34 periventricular heterotopia 58 31 frequent (33%) Frequent (79-30%) HP:0007165
35 broad hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010055
36 abnormal myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012447
37 dilated third ventricle 58 31 frequent (33%) Frequent (79-30%) HP:0007082
38 open operculum 58 31 frequent (33%) Frequent (79-30%) HP:0100954
39 aplasia of the epiglottis 58 31 frequent (33%) Frequent (79-30%) HP:0008753
40 deviation of the hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010051
41 duplication of phalanx of hallux 58 31 frequent (33%) Frequent (79-30%) HP:0010066
42 intellectual disability, severe 31 HP:0010864
43 absent speech 31 HP:0001344
44 cryptorchidism 31 HP:0000028
45 low-set ears 31 HP:0000369
46 atrial septal defect 31 HP:0001631
47 micropenis 31 HP:0000054
48 holoprosencephaly 31 HP:0001360
49 polymicrogyria 31 HP:0002126
50 anteriorly placed anus 31 HP:0001545

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
intellectual disability, severe
dandy-walker malformation
holoprosencephaly
polymicrogyria
more
Head And Neck Mouth:
cleft palate
lobulated tongue
cleft lip
cleft tongue
maxillary alveolar clefting
more
Head And Neck Face:
micrognathia
microretrognathia
facial dysmorphism

Cardiovascular Heart:
atrial septal defect
ventricular septal defect
cardiac malformation

Cardiovascular Vascular:
patent ductus arteriosus

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

Chest Ribs Sternum Clavicles And Scapulae:
short ribs

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

Skeletal Skull:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Genitourinary External Genitalia Male:
micropenis
epispadias

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

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

Skeletal Hands:
preaxial polydactyly
postaxial polydactyly

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:

40
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. 6 56 61
30097616 2018
2
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 6 56
24997988 2014
3
Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. 61 56
27094867 2016
4
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 56
26477546 2015

Variations for Orofaciodigital Syndrome Xiv

ClinVar genetic disease variations for Orofaciodigital Syndrome Xiv:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C2CD3 NM_015531.6(C2CD3):c.1365+1G>ASNV Pathogenic 625149 rs1174615027 11:73834032-73834032 11:74122987-74122987
2 C2CD3 NM_015531.6(C2CD3):c.5090+5G>CSNV Pathogenic 625150 rs1565237232 11:73768446-73768446 11:74057401-74057401
3 C2CD3 NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter)SNV Pathogenic 144038 rs587777653 11:73879530-73879530 11:74168485-74168485
4 C2CD3 NM_015531.6(C2CD3):c.3085T>G (p.Cys1029Gly)SNV Pathogenic 144039 rs587777654 11:73806348-73806348 11:74095303-74095303
5 C2CD3 NM_015531.6(C2CD3):c.3911-2A>TSNV Pathogenic 144040 rs149366137 11:73796017-73796017 11:74084972-74084972
6 C2CD3 NM_001286577.1(C2CD3):c.6968G>A (p.Arg2323His)SNV Uncertain significance 548589 rs958229850 11:73724524-73724524 11:74013479-74013479
7 C2CD3 NM_001286577.1(C2CD3):c.4658G>A (p.Arg1553Gln)SNV Uncertain significance 800747 11:73785591-73785591 11:74074546-74074546
8 C2CD3 NM_001286577.1(C2CD3):c.195G>C (p.Trp65Cys)SNV Uncertain significance 800804 11:73879519-73879519 11:74168474-74168474
9 C2CD3 NM_015531.6(C2CD3):c.5500G>T (p.Asp1834Tyr)SNV Uncertain significance 802699 11:73753259-73753259 11:74042214-74042214
10 C2CD3 NM_001286577.1(C2CD3):c.5929C>T (p.Arg1977Ter)SNV Uncertain significance 828028 11:73745276-73745276 11:74034231-74034231
11 C2CD3 NM_001286577.1(C2CD3):c.185G>C (p.Arg62Pro)SNV Uncertain significance 828029 11:73879529-73879529 11:74168484-74168484

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

73
# 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

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72 UMLS via Orphanet
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