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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

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: ⁶⁰

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 615948

MeSH ⁴⁵ D009958

ICD10 via Orphanet ³⁵ Q87.0

Orphanet ⁶⁰ ORPHA434179

MedGen ⁴³ C4014780 CN207829

UMLS ⁷⁴ C4014780

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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

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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:

³³ (show all 18)

#	Description	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

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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 ³⁰	C2CD3

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Anatomical Context for Orofaciodigital Syndrome Xiv

MalaCards organs/tissues related to Orofaciodigital Syndrome Xiv:

⁴²

Tongue, Brain, Bone, Liver, Eye

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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 )	Boczek NJ...Klee EW	2018
2	The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation. ( 24997988 )	Thauvin-Robinet C...Nachury MV	2014

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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 Calcium Dependent Domain Containing 3	Protein Coding	1678.04	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Summaries Variants (show sections)	24997988 30097616

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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

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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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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

ClinVar 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