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 global developmental delay and abnormal facial shape

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 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 Frequent (79-30%) HP:0001263
2 abnormal facial shape 58 31 Frequent (79-30%) HP:0001999
3 ventricular septal defect 58 31 Frequent (79-30%) HP:0001629
4 microcephaly 58 31 Frequent (79-30%) HP:0000252
5 cleft palate 58 31 Frequent (79-30%) HP:0000175
6 patent ductus arteriosus 58 31 Frequent (79-30%) HP:0001643
7 telecanthus 58 31 Frequent (79-30%) HP:0000506
8 upslanted palpebral fissure 58 31 Frequent (79-30%) HP:0000582
9 dandy-walker malformation 58 31 Frequent (79-30%) HP:0001305
10 trigonocephaly 58 31 Frequent (79-30%) HP:0000243
11 increased number of teeth 58 31 Frequent (79-30%) HP:0011069
12 hypoplasia of the corpus callosum 58 31 Frequent (79-30%) HP:0002079
13 microretrognathia 58 31 Frequent (79-30%) HP:0000308
14 epispadias 58 31 Frequent (79-30%) HP:0000039
15 molar tooth sign on mri 58 31 Frequent (79-30%) HP:0002419
16 bifid tongue 58 31 Frequent (79-30%) HP:0010297
17 hamartoma of tongue 58 31 Frequent (79-30%) HP:0011802
18 retinal coloboma 58 31 Frequent (79-30%) HP:0000480
19 lobulated tongue 58 31 Frequent (79-30%) HP:0000180
20 aplasia of the epiglottis 58 31 Frequent (79-30%) HP:0008753
21 low-set ears 31 HP:0000369
22 short neck 58 Frequent (79-30%)
23 intellectual disability 58 Frequent (79-30%)
24 sleep apnea 58 Frequent (79-30%)
25 muscular hypotonia 58 Frequent (79-30%)
26 cryptorchidism 31 HP:0000028
27 sloping forehead 58 Frequent (79-30%)
28 intellectual disability, severe 31 HP:0010864
29 generalized hypotonia 31 HP:0001290
30 absent speech 31 HP:0001344
31 webbed neck 58 Frequent (79-30%)
32 atrial septal defect 31 HP:0001631
33 abnormality of the pinna 31 HP:0000377
34 cerebellar hypoplasia 31 HP:0001321
35 posteriorly rotated ears 31 HP:0000358
36 micropenis 31 HP:0000054
37 low-set, posteriorly rotated ears 58 Frequent (79-30%)
38 holoprosencephaly 31 HP:0001360
39 bulbous nose 58 Frequent (79-30%)
40 anteriorly placed anus 31 HP:0001545
41 polymicrogyria 31 HP:0002126
42 optic nerve coloboma 31 HP:0000588
43 partial agenesis of the corpus callosum 58 Frequent (79-30%)
44 postaxial hand polydactyly 58 Frequent (79-30%)
45 postaxial foot polydactyly 58 Frequent (79-30%)
46 bilateral cryptorchidism 58 Frequent (79-30%)
47 abnormal myelination 58 Frequent (79-30%)
48 occipital encephalocele 31 HP:0002085
49 gastrostomy tube feeding in infancy 58 Frequent (79-30%)
50 cleft lip 31 HP:0410030

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
posteriorly rotated ears
dysplastic ears

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Heart:
ventricular septal defect
atrial septal defect
cardiac malformation

Head And Neck Mouth:
cleft palate
cleft lip
lobulated tongue
cleft tongue
maxillary alveolar clefting
more
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

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 Face:
micrognathia
microretrognathia
facial dysmorphism

Skeletal Skull:
microcephaly

Cardiovascular Vascular:
patent ductus arteriosus

Genitourinary External Genitalia Male:
micropenis
epispadias

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:

40
Tongue, Brain, Bone, Liver, Lung, Eye, Skin

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. 61 56 6
30097616 2018
2
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. 56 6
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 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 C2CD3 NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter)SNV Pathogenic 144038 rs587777653 11:73879530-73879530 11:74168485-74168485
2 C2CD3 NM_001286577.1(C2CD3):c.3085T>G (p.Cys1029Gly)SNV Pathogenic 144039 rs587777654 11:73806348-73806348 11:74095303-74095303
3 C2CD3 NM_001286577.1(C2CD3):c.3911-2A>TSNV Pathogenic 144040 rs149366137 11:73796017-73796017 11:74084972-74084972
4 C2CD3 NM_001286577.1(C2CD3):c.1365+1G>ASNV Pathogenic 625149 rs1174615027 11:73834032-73834032 11:74122987-74122987
5 C2CD3 NM_001286577.1(C2CD3):c.5090+5G>CSNV Pathogenic 625150 rs1565237232 11:73768446-73768446 11:74057401-74057401
6 C2CD3 NM_001286577.1(C2CD3):c.4658G>A (p.Arg1553Gln)SNV Uncertain significance 800747 11:73785591-73785591 11:74074546-74074546
7 C2CD3 NM_001286577.1(C2CD3):c.195G>C (p.Trp65Cys)SNV Uncertain significance 800804 11:73879519-73879519 11:74168474-74168474
8 C2CD3 NM_001286577.1(C2CD3):c.5500G>T (p.Asp1834Tyr)SNV Uncertain significance 802699 11:73753259-73753259 11:74042214-74042214
9 C2CD3 NM_001286577.1(C2CD3):c.6968G>A (p.Arg2323His)SNV Uncertain significance 548589 rs958229850 11:73724524-73724524 11:74013479-74013479

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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