VHO
MCID: VRT018
MIFTS: 8

Vertebral Hypersegmentation and Orofacial Anomalies (VHO)

Categories: Genetic diseases

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:



External Ids:

OMIM® 57 619122

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).

Related Diseases for Vertebral Hypersegmentation and Orofacial Anomalies

Symptoms & Phenotypes for Vertebral Hypersegmentation and Orofacial Anomalies

Clinical features from OMIM®:

619122 (Updated 05-Mar-2021)

Drugs & Therapeutics for Vertebral Hypersegmentation and Orofacial Anomalies

Search Clinical Trials , NIH Clinical Center 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:

# 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
31215115 2019

Variations for Vertebral Hypersegmentation and Orofacial Anomalies

ClinVar genetic disease variations for Vertebral Hypersegmentation and Orofacial Anomalies:

6
# 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

Expression for Vertebral Hypersegmentation and Orofacial Anomalies

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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