OFD14
MCID: ORF036
MIFTS: 25

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 57 29 6 73
Ofd14 57 53 59 75
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 75
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
one living patient and 1 unrelated fetus have been reported (last curated august, 2014)


HPO:

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


Classifications:



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: 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability, severe
molar tooth sign
lack of speech
corpus callosum hypoplasia
vermian hypoplasia
more
Head And Neck Eyes:
telecanthus
upslanting palpebral fissures
retinitis

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

Head And Neck Face:
facial dysmorphism

Skeletal Feet:
broad, duplicated halluces

Head And Neck Mouth:
cleft palate
lobulated tongue
cleft tongue
lingual hamartoma
buccal frenulae
more
Genitourinary External Genitalia Male:
micropenis

Skeletal Hands:
postaxial polydactyly

Head And Neck Teeth:
supernumerary teeth


Clinical features from OMIM:

615948

Human phenotypes related to Orofaciodigital Syndrome Xiv:

32 (show all 17)
# 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 increased number of teeth 32 HP:0011069
8 upslanted palpebral fissure 32 HP:0000582
9 micropenis 32 HP:0000054
10 hypoplasia of the corpus callosum 32 HP:0002079
11 trigonocephaly 32 HP:0000243
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

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, Eye

Publications for Orofaciodigital Syndrome Xiv

Variations for Orofaciodigital Syndrome Xiv

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

75
# Symbol AA change Variation ID SNP ID
1 C2CD3 p.Cys1029Gly VAR_071196 rs587777654

ClinVar genetic disease variations for Orofaciodigital Syndrome Xiv:

6
# 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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