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

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Aliases & Classifications for Orofaciodigital Syndrome Xiv

MalaCards integrated aliases for Orofaciodigital Syndrome Xiv:

Name: Orofaciodigital Syndrome Xiv ⁵⁷ ²⁹ ⁶ ⁷²

Ofd14 ⁵⁷ ⁵³ ⁵⁹ ⁷⁴

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 ⁷⁴

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

HPO:

³²

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 Oral diseases Eye diseases Nephrological diseases Ear diseases Respiratory diseases Skin diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 615948 PS311200

MeSH ⁴⁴ D009958

ICD10 via Orphanet ³⁴ Q87.0

Orphanet ⁵⁹ ORPHA434179

MedGen ⁴² C4014780 CN207829

UMLS ⁷² C4014780

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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: 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 bone, and related phenotypes are abnormal facial shape and microcephaly

UniProtKB/Swiss-Prot : ⁷⁴ 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:

³² (show all 18)

#	Description	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	trigonocephaly ³²	HP:0000243
8	micropenis ³²	HP:0000054
9	increased number of teeth ³²	HP:0011069
10	upslanted palpebral fissure ³²	HP:0000582
11	hypoplasia of the corpus callosum ³²	HP:0002079
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
18	retinitis ³²	HP:0032118

Symptoms via clinical synopsis from OMIM:

⁵⁷

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
retinitis
upslanting palpebral fissures

Genitourinary External Genitalia Male:
micropenis
epispadias

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 Mouth:
cleft palate
cleft lip
lobulated tongue
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)

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:

⁴¹

Tongue, Brain, Bone, 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. ³⁸ ⁸ ⁷¹	Boczek NJ...Klee EW	30097616	2018
2	The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. ⁸ ⁷¹	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. ³⁸ ⁸	Cortes CR...Wicking C	27094867	2016
4	Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. ⁸	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	1678.19	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ 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	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	C2CD3	NM_001286577.1(C2CD3): c.184C> T (p.Arg62Ter)	single nucleotide variant	Pathogenic	rs587777653	11:73879530-73879530	11:74168485-74168485
2	C2CD3	NM_001286577.1(C2CD3): c.3085T> G (p.Cys1029Gly)	single nucleotide variant	Pathogenic	rs587777654	11:73806348-73806348	11:74095303-74095303
3	C2CD3	NM_001286577.1(C2CD3): c.3911-2A> T	single nucleotide variant	Pathogenic	rs149366137	11:73796017-73796017	11:74084972-74084972
4	C2CD3	NM_001286577.1(C2CD3): c.1365+1G> A	single nucleotide variant	Pathogenic		11:73834032-73834032	11:74122987-74122987
5	C2CD3	NM_001286577.1(C2CD3): c.5090+5G> C	single nucleotide variant	Pathogenic		11:73768446-73768446	11:74057401-74057401
6	C2CD3	NM_001286577.1(C2CD3): c.6968G> A (p.Arg2323His)	single nucleotide variant	Uncertain significance	rs958229850	11:73724524-73724524	11:74013479-74013479

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

⁷⁴

#	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

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⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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