Orofaciodigital Syndrome Xiv disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Eye diseases Nephrological diseases Ear diseases Respiratory diseases Skin diseases Oral diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁵⁸

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 615948

OMIM Phenotypic Series ⁵⁶ PS311200

MeSH ⁴³ D009958

ICD10 via Orphanet ³³ Q87.0

Orphanet ⁵⁸ ORPHA434179

MedGen ⁴¹ C4014780 CN207829

UMLS ⁷¹ C4014780

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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

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Related Diseases for Orofaciodigital Syndrome Xiv

Diseases in the Orofaciodigital Syndrome family:

Orofaciodigital Syndrome X	Orofaciodigital Syndrome V
Orofaciodigital Syndrome Iii	Orofaciodigital Syndrome Iv
Orofaciodigital Syndrome Ix	Orofaciodigital Syndrome Vi
Orofaciodigital Syndrome Viii	Orofaciodigital Syndrome I
Orofaciodigital Syndrome Vii	Orofaciodigital Syndrome Xi
Orofaciodigital Syndrome Xiv	Orofaciodigital Syndrome Xv
Orofaciodigital Syndrome Xvi	Orofaciodigital Syndrome Xvii
Orofaciodigital Syndrome Xviii	Orofaciodigital Syndrome 12
Orofaciodigital Syndrome 13

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Symptoms & Phenotypes for Orofaciodigital Syndrome Xiv

Human phenotypes related to Orofaciodigital Syndrome Xiv:

⁵⁸ ³¹ (show top 50) (show all 65)

#	Description	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

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Drugs & Therapeutics for Orofaciodigital Syndrome Xiv

Search Clinical Trials , NIH Clinical Center for Orofaciodigital Syndrome Xiv

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Genetic Tests for Orofaciodigital Syndrome Xiv

Genetic tests related to Orofaciodigital Syndrome Xiv:

#	Genetic test	Affiliating Genes
1	Orofaciodigital Syndrome Xiv ²⁹	C2CD3

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Anatomical Context for Orofaciodigital Syndrome Xiv

MalaCards organs/tissues related to Orofaciodigital Syndrome Xiv:

⁴⁰

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

Sources

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	Boczek NJ...Klee EW	30097616	2018
2	The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. ⁵⁶ ⁶	Thauvin-Robinet C...Nachury MV	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	Cortes CR...Wicking C	27094867	2016
4	Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. ⁵⁶	Srour M...Michaud JL	26477546	2015

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Genes for Orofaciodigital Syndrome Xiv

Genes related to Orofaciodigital Syndrome Xiv (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	C2CD3	C2 Domain Containing 3 Centriole Elongation Regulator	Protein Coding	1668.39	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Summaries Variants (show sections)	24997988 30097616

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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>T	SNV	Pathogenic	144040	rs149366137	11:73796017-73796017	11:74084972-74084972
4	C2CD3	NM_001286577.1(C2CD3):c.1365+1G>A	SNV	Pathogenic	625149	rs1174615027	11:73834032-73834032	11:74122987-74122987
5	C2CD3	NM_001286577.1(C2CD3):c.5090+5G>C	SNV	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

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Expression for Orofaciodigital Syndrome Xiv

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

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Pathways for Orofaciodigital Syndrome Xiv

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GO Terms for Orofaciodigital Syndrome Xiv

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Sources for Orofaciodigital Syndrome Xiv

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

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³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

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⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Orofaciodigital Syndrome Xiv (OFD14)

Aliases & Classifications for Orofaciodigital Syndrome Xiv

MalaCards integrated aliases for Orofaciodigital Syndrome Xiv:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Orofaciodigital Syndrome Xiv

Related Diseases for Orofaciodigital Syndrome Xiv

Diseases in the Orofaciodigital Syndrome family:

Symptoms & Phenotypes for Orofaciodigital Syndrome Xiv

Human phenotypes related to Orofaciodigital Syndrome Xiv:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Orofaciodigital Syndrome Xiv

Genetic Tests for Orofaciodigital Syndrome Xiv

Genetic tests related to Orofaciodigital Syndrome Xiv:

Anatomical Context for Orofaciodigital Syndrome Xiv

MalaCards organs/tissues related to Orofaciodigital Syndrome Xiv:

Publications for Orofaciodigital Syndrome Xiv

Articles related to Orofaciodigital Syndrome Xiv:

Genes for Orofaciodigital Syndrome Xiv

Genes related to Orofaciodigital Syndrome Xiv (1 elite genes):

Variations for Orofaciodigital Syndrome Xiv

ClinVar genetic disease variations for Orofaciodigital Syndrome Xiv:

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

Expression for Orofaciodigital Syndrome Xiv

Pathways for Orofaciodigital Syndrome Xiv

GO Terms for Orofaciodigital Syndrome Xiv

Sources for Orofaciodigital Syndrome Xiv