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 ⁵⁷ ²⁹ ⁶ ⁷¹

Ofd14 ⁵⁷ ²⁰ ⁵⁸ ⁷³

Microcephaly-Cerebral Malformation-Orofaciodigital Syndrome ²⁰ ⁵⁸

Oral-Facial-Digital Syndrome Type 14 ²⁰ ⁵⁸

Orofaciodigital Syndrome Type 14 ²⁰ ⁵⁸

Orofaciodigital Syndrome 14 ²⁰ 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®:

⁵⁷ (Updated 05-Mar-2021)

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® ⁵⁷ 615948

OMIM Phenotypic Series ⁵⁷ PS311200

MeSH ⁴⁴ 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

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 434179DefinitionOrofaciodigital 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 liver, and related phenotypes are intellectual disability and sleep apnea

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	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	intellectual disability ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001249
2	sleep apnea ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010535
3	short neck ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000470
4	global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001263
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	microretrognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000308
18	partial agenesis of the corpus callosum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001338
19	epispadias ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000039
20	postaxial hand polydactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001162
21	postaxial foot polydactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001830
22	sloping forehead ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000340
23	trigonocephaly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000243
24	hypoplasia of the corpus callosum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002079
25	molar tooth sign on mri ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002419
26	gastrostomy tube feeding in infancy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011471
27	accessory oral frenulum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000191
28	bifid tongue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010297
29	hamartoma of tongue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0011802
30	lobulated tongue ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000180
31	retinal coloboma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000480
32	bilateral cryptorchidism ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008689
33	periventricular heterotopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007165
34	broad hallux ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010055
35	abnormal myelination ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012447
36	dilated third ventricle ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007082
37	open operculum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100954
38	aplasia of the epiglottis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0008753
39	deviation of the hallux ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010051
40	duplication of phalanx of hallux ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010066
41	hypotonia ³¹	frequent (33%)		HP:0001252
42	muscular hypotonia ⁵⁸		Frequent (79-30%)
43	intellectual disability, severe ³¹			HP:0010864
44	absent speech ³¹			HP:0001344
45	cryptorchidism ³¹			HP:0000028
46	low-set ears ³¹			HP:0000369
47	atrial septal defect ³¹			HP:0001631
48	micropenis ³¹			HP:0000054
49	holoprosencephaly ³¹			HP:0001360
50	polymicrogyria ³¹			HP:0002126

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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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, Liver, Lung

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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 ⁶ ⁵⁷	Boczek NJ...Klee EW	30097616	2018
2	The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. ⁶ ⁵⁷	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. ⁵⁷ ⁶¹	Cortes CR...Wicking C	27094867	2016
4	Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. ⁵⁷	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	PubMed IDs
1	C2CD3	C2 Domain Containing 3 Centriole Elongation Regulator	Protein Coding	1668.21	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Summaries Variants (show sections)	24997988

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Variations for Orofaciodigital Syndrome Xiv

ClinVar genetic disease variations for Orofaciodigital Syndrome Xiv:

⁶ (show all 13)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	C2CD3	NM_015531.6(C2CD3):c.1365+1G>A	SNV	Pathogenic	625149	rs1174615027	11:73834032-73834032	11:74122987-74122987
2	C2CD3	NM_015531.6(C2CD3):c.5090+5G>C	SNV	Pathogenic	625150	rs1565237232	11:73768446-73768446	11:74057401-74057401
3	C2CD3	NM_015531.6(C2CD3):c.3085T>G (p.Cys1029Gly)	SNV	Pathogenic	144039	rs587777654	11:73806348-73806348	11:74095303-74095303
4	C2CD3	NM_015531.6(C2CD3):c.3911-2A>T	SNV	Pathogenic	144040	rs149366137	11:73796017-73796017	11:74084972-74084972
5	C2CD3	NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter)	SNV	Pathogenic	144038	rs587777653	11:73879530-73879530	11:74168485-74168485
6	C2CD3	NM_001286577.2(C2CD3):c.2220G>A (p.Met740Ile)	SNV	Uncertain significance	931443		11:73814536-73814536	11:74103491-74103491
7	C2CD3	NM_001286577.1(C2CD3):c.6968G>A (p.Arg2323His)	SNV	Uncertain significance	548589	rs958229850	11:73724524-73724524	11:74013479-74013479
8	C2CD3	NM_001286577.1(C2CD3):c.4658G>A (p.Arg1553Gln)	SNV	Uncertain significance	800747	rs542660333	11:73785591-73785591	11:74074546-74074546
9	C2CD3	NM_001286577.1(C2CD3):c.195G>C (p.Trp65Cys)	SNV	Uncertain significance	800804	rs1590991247	11:73879519-73879519	11:74168474-74168474
10	C2CD3	NM_015531.6(C2CD3):c.5500G>T (p.Asp1834Tyr)	SNV	Uncertain significance	802699	rs1591315135	11:73753259-73753259	11:74042214-74042214
11	C2CD3	NM_001286577.1(C2CD3):c.5929C>T (p.Arg1977Ter)	SNV	Uncertain significance	828028	rs748668786	11:73745276-73745276	11:74034231-74034231
12	C2CD3	NM_001286577.1(C2CD3):c.185G>C (p.Arg62Pro)	SNV	Uncertain significance	828029	rs138748539	11:73879529-73879529	11:74168484-74168484
13	C2CD3	NM_015531.6(C2CD3):c.704C>T (p.Pro235Leu)	SNV	Benign	599461	rs149910292	11:73850653-73850653	11:74139608-74139608

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

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⁸ Cochrane Library

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²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

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²⁷ GEO DataSets

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³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

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³⁷ LifeMap

³⁸ LncRNADisease

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⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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⁴⁴ MeSH

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⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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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