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 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:

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: 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

Orphanet ⁵⁹ ORPHA434179

ICD10 via Orphanet ³⁴ Q87.0

MedGen ⁴² C4014780 CN207829

MeSH ⁴⁴ D009958

UMLS ⁷³ C4014780

Sources

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

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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

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 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

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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, Eye

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Publications for Orofaciodigital Syndrome Xiv

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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	1727.9	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Unconfirmed association ⁵⁷ GeneCards inferred via : Summaries Variants (show sections)	24997988

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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

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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

⁹ Cosmic

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²⁵ Genetics Home Reference

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²⁷ GEO DataSets

²⁸ GO

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³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

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⁴⁴ MeSH

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⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Orofaciodigital Syndrome Xiv:

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

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