OFD14
MCID: ORF036
MIFTS: 27

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

Aliases & Classifications for Orofaciodigital Syndrome Xiv

MalaCards integrated aliases for Orofaciodigital Syndrome Xiv:

Name: Orofaciodigital Syndrome Xiv 58 30 6 74
Ofd14 58 54 60 76
Microcephaly-Cerebral Malformation-Orofaciodigital Syndrome 54 60
Oral-Facial-Digital Syndrome Type 14 54 60
Orofaciodigital Syndrome Type 14 54 60
Orofaciodigital Syndrome 14 54 76
Orofaciodigital Syndrome, Type Xiv 41

Characteristics:

Orphanet epidemiological data:

60
orofaciodigital syndrome type 14
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero


HPO:

33
orofaciodigital syndrome xiv:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Orofaciodigital Syndrome Xiv

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 434179Disease definitionOrofaciodigital 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 Calcium Dependent Domain Containing 3). Affiliated tissues include tongue, brain and bone, and related phenotypes are abnormal facial shape and microcephaly

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 615948

Related Diseases for Orofaciodigital Syndrome Xiv

Symptoms & Phenotypes for Orofaciodigital Syndrome Xiv

Human phenotypes related to Orofaciodigital Syndrome Xiv:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 33 HP:0001999
2 microcephaly 33 HP:0000252
3 intellectual disability, severe 33 HP:0010864
4 cleft palate 33 HP:0000175
5 absent speech 33 HP:0001344
6 telecanthus 33 HP:0000506
7 trigonocephaly 33 HP:0000243
8 increased number of teeth 33 HP:0011069
9 upslanted palpebral fissure 33 HP:0000582
10 micropenis 33 HP:0000054
11 hypoplasia of the corpus callosum 33 HP:0002079
12 molar tooth sign on mri 33 HP:0002419
13 bifid tongue 33 HP:0010297
14 hamartoma of tongue 33 HP:0011802
15 lobulated tongue 33 HP:0000180
16 postaxial polydactyly 33 HP:0100259
17 retinitis 33 HP:0032118
18 aplasia of the epiglottis 33 HP:0008753

Symptoms via clinical synopsis from OMIM:

58
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
upslanting palpebral fissures
retinitis

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

Neurologic Central Nervous System:
global developmental delay
intellectual disability, severe
cerebellar hypoplasia
holoprosencephaly
polymicrogyria
more
Head And Neck Mouth:
cleft palate
lobulated tongue
cleft lip
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)

Genitourinary External Genitalia Male:
epispadias
micropenis

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 30 C2CD3

Anatomical Context for Orofaciodigital Syndrome Xiv

MalaCards organs/tissues related to Orofaciodigital Syndrome Xiv:

42
Tongue, Brain, Bone, Liver, Eye

Publications for Orofaciodigital Syndrome Xiv

Articles related to Orofaciodigital Syndrome Xiv:

# Title Authors Year
1
Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants. ( 30097616 )
2018
2
The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. ( 24997988 )
2014

Variations for Orofaciodigital Syndrome Xiv

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

76
# Symbol AA change Variation ID SNP ID
1 C2CD3 p.Cys1029Gly VAR_071196 rs587777654

ClinVar genetic disease variations for Orofaciodigital Syndrome Xiv:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 C2CD3 NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs587777653 GRCh38 Chromosome 11, 74168485: 74168485
2 C2CD3 NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter) single nucleotide variant Pathogenic rs587777653 GRCh37 Chromosome 11, 73879530: 73879530
3 C2CD3 NM_001286577.1(C2CD3): c.3085T> G (p.Cys1029Gly) single nucleotide variant Pathogenic rs587777654 GRCh38 Chromosome 11, 74095303: 74095303
4 C2CD3 NM_001286577.1(C2CD3): c.3085T> G (p.Cys1029Gly) single nucleotide variant Pathogenic rs587777654 GRCh37 Chromosome 11, 73806348: 73806348
5 C2CD3 NM_015531.5(C2CD3): c.3911-2A> T single nucleotide variant Pathogenic rs149366137 GRCh37 Chromosome 11, 73796017: 73796017
6 C2CD3 NM_015531.5(C2CD3): c.3911-2A> T single nucleotide variant Pathogenic rs149366137 GRCh38 Chromosome 11, 74084972: 74084972
7 C2CD3 NM_001286577.1(C2CD3): c.6968G> A (p.Arg2323His) single nucleotide variant Uncertain significance rs958229850 GRCh38 Chromosome 11, 74013479: 74013479
8 C2CD3 NM_001286577.1(C2CD3): c.6968G> A (p.Arg2323His) single nucleotide variant Uncertain significance rs958229850 GRCh37 Chromosome 11, 73724524: 73724524
9 C2CD3 NM_001286577.1(C2CD3): c.1365+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 11, 73834032: 73834032
10 C2CD3 NM_001286577.1(C2CD3): c.1365+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 11, 74122987: 74122987
11 C2CD3 NM_001286577.1(C2CD3): c.5090+5G> C single nucleotide variant Pathogenic GRCh38 Chromosome 11, 74057401: 74057401
12 C2CD3 NM_001286577.1(C2CD3): c.5090+5G> C single nucleotide variant Pathogenic GRCh37 Chromosome 11, 73768446: 73768446

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
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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