Vertebral Hypersegmentation and Orofacial Anomalies disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Vertebral Hypersegmentation and Orofacial Anomalies

MalaCards integrated aliases for Vertebral Hypersegmentation and Orofacial Anomalies:

Name: Vertebral Hypersegmentation and Orofacial Anomalies ⁵⁷ ⁶

Vho ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 619122

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Summaries for Vertebral Hypersegmentation and Orofacial Anomalies

OMIM® : ⁵⁷ Vertebral hypersegmentation and orofacial anomalies (VHO) is characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs. Most patients also exhibit orofacial clefting and ear anomalies (Cox et al., 2019). (619122) (Updated 05-Mar-2021)

MalaCards based summary : Vertebral Hypersegmentation and Orofacial Anomalies, is also known as vho. An important gene associated with Vertebral Hypersegmentation and Orofacial Anomalies is GDF11 (Growth Differentiation Factor 11).

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Related Diseases for Vertebral Hypersegmentation and Orofacial Anomalies

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Symptoms & Phenotypes for Vertebral Hypersegmentation and Orofacial Anomalies

Clinical features from OMIM®:

619122 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Vertebral Hypersegmentation and Orofacial Anomalies

Search Clinical Trials , NIH Clinical Center for Vertebral Hypersegmentation and Orofacial Anomalies

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Genetic Tests for Vertebral Hypersegmentation and Orofacial Anomalies

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Anatomical Context for Vertebral Hypersegmentation and Orofacial Anomalies

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Publications for Vertebral Hypersegmentation and Orofacial Anomalies

Articles related to Vertebral Hypersegmentation and Orofacial Anomalies:

#	Title	Authors	PMID	Year
1	Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. ⁵⁷ ⁶	Cox TC...Roscioli T	31215115	2019

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Genes for Vertebral Hypersegmentation and Orofacial Anomalies

Genes related to Vertebral Hypersegmentation and Orofacial Anomalies (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GDF11	Growth Differentiation Factor 11	Protein Coding	957.83	Molecular basis known ⁵⁷ Pathogenic ⁶ Unconfirmed association ⁵⁷ GeneCards inferred via : Variants (show sections)	31215115

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Variations for Vertebral Hypersegmentation and Orofacial Anomalies

ClinVar genetic disease variations for Vertebral Hypersegmentation and Orofacial Anomalies:

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#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GDF11	NM_005811.5(GDF11):c.893G>A (p.Arg298Gln)	SNV	Pathogenic	982234		12:56143335-56143335	12:55749551-55749551

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Expression for Vertebral Hypersegmentation and Orofacial Anomalies

Search GEO for disease gene expression data for Vertebral Hypersegmentation and Orofacial Anomalies.

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Pathways for Vertebral Hypersegmentation and Orofacial Anomalies

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GO Terms for Vertebral Hypersegmentation and Orofacial Anomalies

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Sources for Vertebral Hypersegmentation and Orofacial Anomalies

¹ BioSystems

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁷¹ UMLS

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Vertebral Hypersegmentation and Orofacial Anomalies (VHO)

Aliases & Classifications for Vertebral Hypersegmentation and Orofacial Anomalies

MalaCards integrated aliases for Vertebral Hypersegmentation and Orofacial Anomalies:

Classifications:

External Ids:

Summaries for Vertebral Hypersegmentation and Orofacial Anomalies

Related Diseases for Vertebral Hypersegmentation and Orofacial Anomalies

Symptoms & Phenotypes for Vertebral Hypersegmentation and Orofacial Anomalies

Clinical features from OMIM®:

Drugs & Therapeutics for Vertebral Hypersegmentation and Orofacial Anomalies

Genetic Tests for Vertebral Hypersegmentation and Orofacial Anomalies

Anatomical Context for Vertebral Hypersegmentation and Orofacial Anomalies

Publications for Vertebral Hypersegmentation and Orofacial Anomalies

Articles related to Vertebral Hypersegmentation and Orofacial Anomalies:

Genes for Vertebral Hypersegmentation and Orofacial Anomalies

Genes related to Vertebral Hypersegmentation and Orofacial Anomalies (1 elite genes):

Variations for Vertebral Hypersegmentation and Orofacial Anomalies

ClinVar genetic disease variations for Vertebral Hypersegmentation and Orofacial Anomalies:

Expression for Vertebral Hypersegmentation and Orofacial Anomalies

Pathways for Vertebral Hypersegmentation and Orofacial Anomalies

GO Terms for Vertebral Hypersegmentation and Orofacial Anomalies

Sources for Vertebral Hypersegmentation and Orofacial Anomalies