Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification
Congenital upper-limb anomalies (CULA) can present as a part of a syndrome or association. There is a wide spectrum of CULA, each of which might be related to different diseases. The structure provided by the Oberg, Manske, and Tonkin (OMT) classification could aid in differential diagnosis formulat...
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Veröffentlicht in: | The Journal of hand surgery (American ed.) 2017-07, Vol.42 (7), p.533-545.e4 |
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container_title | The Journal of hand surgery (American ed.) |
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creator | Baas, Martijn Stubbs, Andrew P. van Zessen, David B. Galjaard, Robert-Jan H. van der Spek, Peter J. Hovius, Steven E.R. van Nieuwenhoven, Christianne A. |
description | Congenital upper-limb anomalies (CULA) can present as a part of a syndrome or association. There is a wide spectrum of CULA, each of which might be related to different diseases. The structure provided by the Oberg, Manske, and Tonkin (OMT) classification could aid in differential diagnosis formulation in patients with CULA. The aims of this study were to review the Human Phenotype Ontology (HPO) project database for diseases and causative genes related to the CULA described in the OMT classification and to develop a methodology for differential diagnosis formulation based on the observed congenital anomalies, CulaPhen.
We reviewed the HPO database for all diseases, including causative genes related to CULA. All CULA were classified according to the OMT classification; associated non-hand phenotypes were classified into 12 anatomical groups. We analyzed the contribution of each anatomical group to a given disease and developed a tool for differential diagnosis formulation based on these contributions. We compared our results with cases from the literature and with a current HPO tool, Phenomizer.
In total, 514 hand phenotypes were obtained, 384 of which could be classified in the OMT classification. A total of 1,403 diseases could be related to those CULA. A comparison with 10 recently published cases with CULA revealed that the presented phenotype matched the descriptions in our dataset. The differential diagnosis produced using our methodology was more accurate than Phenomizer in 4 of 5 examples.
The OMT classification can be used to describe hand anomalies that may present in over 1,400 diseases. CulaPhen was developed to provide a (hand) phenotype-based differential diagnosis. Differential diagnosis formulation based on the proposed system outperforms the system in current use.
This study illustrates that the OMT diagnoses, either individually or combined, can be cross-referenced with different diseases and syndromes. Therefore, use of the OMT classification can aid differential diagnosis formulation for CULA patients. |
doi_str_mv | 10.1016/j.jhsa.2017.03.043 |
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We reviewed the HPO database for all diseases, including causative genes related to CULA. All CULA were classified according to the OMT classification; associated non-hand phenotypes were classified into 12 anatomical groups. We analyzed the contribution of each anatomical group to a given disease and developed a tool for differential diagnosis formulation based on these contributions. We compared our results with cases from the literature and with a current HPO tool, Phenomizer.
In total, 514 hand phenotypes were obtained, 384 of which could be classified in the OMT classification. A total of 1,403 diseases could be related to those CULA. A comparison with 10 recently published cases with CULA revealed that the presented phenotype matched the descriptions in our dataset. The differential diagnosis produced using our methodology was more accurate than Phenomizer in 4 of 5 examples.
The OMT classification can be used to describe hand anomalies that may present in over 1,400 diseases. CulaPhen was developed to provide a (hand) phenotype-based differential diagnosis. Differential diagnosis formulation based on the proposed system outperforms the system in current use.
This study illustrates that the OMT diagnoses, either individually or combined, can be cross-referenced with different diseases and syndromes. Therefore, use of the OMT classification can aid differential diagnosis formulation for CULA patients.</description><identifier>ISSN: 0363-5023</identifier><identifier>EISSN: 1531-6564</identifier><identifier>DOI: 10.1016/j.jhsa.2017.03.043</identifier><identifier>PMID: 28669419</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Databases, Genetic ; Gene Ontology ; genetic disorders ; hand anomalies ; Humans ; Mendelian diseases ; OMT classification ; Phenotype ; Upper Extremity Deformities, Congenital - classification ; Upper Extremity Deformities, Congenital - diagnosis ; Upper Extremity Deformities, Congenital - genetics</subject><ispartof>The Journal of hand surgery (American ed.), 2017-07, Vol.42 (7), p.533-545.e4</ispartof><rights>2017 American Society for Surgery of the Hand</rights><rights>Copyright © 2017 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-5b1775a1beaac3483f62fc75bdfc3b5bc83050cdd17e500d0001578a35c128273</citedby><cites>FETCH-LOGICAL-c356t-5b1775a1beaac3483f62fc75bdfc3b5bc83050cdd17e500d0001578a35c128273</cites><orcidid>0000-0001-5173-2154</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0363502317305890$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28669419$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Baas, Martijn</creatorcontrib><creatorcontrib>Stubbs, Andrew P.</creatorcontrib><creatorcontrib>van Zessen, David B.</creatorcontrib><creatorcontrib>Galjaard, Robert-Jan H.</creatorcontrib><creatorcontrib>van der Spek, Peter J.</creatorcontrib><creatorcontrib>Hovius, Steven E.R.</creatorcontrib><creatorcontrib>van Nieuwenhoven, Christianne A.</creatorcontrib><title>Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification</title><title>The Journal of hand surgery (American ed.)</title><addtitle>J Hand Surg Am</addtitle><description>Congenital upper-limb anomalies (CULA) can present as a part of a syndrome or association. There is a wide spectrum of CULA, each of which might be related to different diseases. The structure provided by the Oberg, Manske, and Tonkin (OMT) classification could aid in differential diagnosis formulation in patients with CULA. The aims of this study were to review the Human Phenotype Ontology (HPO) project database for diseases and causative genes related to the CULA described in the OMT classification and to develop a methodology for differential diagnosis formulation based on the observed congenital anomalies, CulaPhen.
We reviewed the HPO database for all diseases, including causative genes related to CULA. All CULA were classified according to the OMT classification; associated non-hand phenotypes were classified into 12 anatomical groups. We analyzed the contribution of each anatomical group to a given disease and developed a tool for differential diagnosis formulation based on these contributions. We compared our results with cases from the literature and with a current HPO tool, Phenomizer.
In total, 514 hand phenotypes were obtained, 384 of which could be classified in the OMT classification. A total of 1,403 diseases could be related to those CULA. A comparison with 10 recently published cases with CULA revealed that the presented phenotype matched the descriptions in our dataset. The differential diagnosis produced using our methodology was more accurate than Phenomizer in 4 of 5 examples.
The OMT classification can be used to describe hand anomalies that may present in over 1,400 diseases. CulaPhen was developed to provide a (hand) phenotype-based differential diagnosis. Differential diagnosis formulation based on the proposed system outperforms the system in current use.
This study illustrates that the OMT diagnoses, either individually or combined, can be cross-referenced with different diseases and syndromes. Therefore, use of the OMT classification can aid differential diagnosis formulation for CULA patients.</description><subject>Databases, Genetic</subject><subject>Gene Ontology</subject><subject>genetic disorders</subject><subject>hand anomalies</subject><subject>Humans</subject><subject>Mendelian diseases</subject><subject>OMT classification</subject><subject>Phenotype</subject><subject>Upper Extremity Deformities, Congenital - classification</subject><subject>Upper Extremity Deformities, Congenital - diagnosis</subject><subject>Upper Extremity Deformities, Congenital - genetics</subject><issn>0363-5023</issn><issn>1531-6564</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kc1u1DAUhS1ERYfCC7BAXrJJasdjJ4PYRFNoK01bFq1YWo59w3iU2CHXU4mn4JXxaErFqqurK33n3J9DyAfOSs64Ot-Vuy2asmK8Lpko2VK8IgsuBS-UVMvXZMGEEoVklTglbxF3jGWVkG_IadUotVry1YL8uXYQku-9NcnHQGNPW8RovUng6CUEQGqCoxcewWBufKDfM5pFSH_4tKXrGH5C8MkM9GGaYC42fuxoG-JoBg_4mbb0Nj7CQNtpGv4bk7ZA727u6XowiM8LvCMnvRkQ3j_VM_Lw7ev9-qrY3F1er9tNYYVUqZAdr2tpeAfGWLFsRK-q3tayc70VnexsI5hk1jleg2TMHU6XdWOEtLxqqlqckU9H32mOv_aASY8eLQyDCRD3qPmKSymVZCqj1RG1c0ScodfT7Ecz_9ac6UMQeqcPQehDEJoJnYPIoo9P_vtuBPcs-ff5DHw5ApCvfPQwa7T5qxacn8Em7aJ_yf8vqt2anw</recordid><startdate>201707</startdate><enddate>201707</enddate><creator>Baas, Martijn</creator><creator>Stubbs, Andrew P.</creator><creator>van Zessen, David B.</creator><creator>Galjaard, Robert-Jan H.</creator><creator>van der Spek, Peter J.</creator><creator>Hovius, Steven E.R.</creator><creator>van Nieuwenhoven, Christianne A.</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-5173-2154</orcidid></search><sort><creationdate>201707</creationdate><title>Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification</title><author>Baas, Martijn ; Stubbs, Andrew P. ; van Zessen, David B. ; Galjaard, Robert-Jan H. ; van der Spek, Peter J. ; Hovius, Steven E.R. ; van Nieuwenhoven, Christianne A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-5b1775a1beaac3483f62fc75bdfc3b5bc83050cdd17e500d0001578a35c128273</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Databases, Genetic</topic><topic>Gene Ontology</topic><topic>genetic disorders</topic><topic>hand anomalies</topic><topic>Humans</topic><topic>Mendelian diseases</topic><topic>OMT classification</topic><topic>Phenotype</topic><topic>Upper Extremity Deformities, Congenital - classification</topic><topic>Upper Extremity Deformities, Congenital - diagnosis</topic><topic>Upper Extremity Deformities, Congenital - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Baas, Martijn</creatorcontrib><creatorcontrib>Stubbs, Andrew P.</creatorcontrib><creatorcontrib>van Zessen, David B.</creatorcontrib><creatorcontrib>Galjaard, Robert-Jan H.</creatorcontrib><creatorcontrib>van der Spek, Peter J.</creatorcontrib><creatorcontrib>Hovius, Steven E.R.</creatorcontrib><creatorcontrib>van Nieuwenhoven, Christianne A.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The Journal of hand surgery (American ed.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Baas, Martijn</au><au>Stubbs, Andrew P.</au><au>van Zessen, David B.</au><au>Galjaard, Robert-Jan H.</au><au>van der Spek, Peter J.</au><au>Hovius, Steven E.R.</au><au>van Nieuwenhoven, Christianne A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification</atitle><jtitle>The Journal of hand surgery (American ed.)</jtitle><addtitle>J Hand Surg Am</addtitle><date>2017-07</date><risdate>2017</risdate><volume>42</volume><issue>7</issue><spage>533</spage><epage>545.e4</epage><pages>533-545.e4</pages><issn>0363-5023</issn><eissn>1531-6564</eissn><abstract>Congenital upper-limb anomalies (CULA) can present as a part of a syndrome or association. There is a wide spectrum of CULA, each of which might be related to different diseases. The structure provided by the Oberg, Manske, and Tonkin (OMT) classification could aid in differential diagnosis formulation in patients with CULA. The aims of this study were to review the Human Phenotype Ontology (HPO) project database for diseases and causative genes related to the CULA described in the OMT classification and to develop a methodology for differential diagnosis formulation based on the observed congenital anomalies, CulaPhen.
We reviewed the HPO database for all diseases, including causative genes related to CULA. All CULA were classified according to the OMT classification; associated non-hand phenotypes were classified into 12 anatomical groups. We analyzed the contribution of each anatomical group to a given disease and developed a tool for differential diagnosis formulation based on these contributions. We compared our results with cases from the literature and with a current HPO tool, Phenomizer.
In total, 514 hand phenotypes were obtained, 384 of which could be classified in the OMT classification. A total of 1,403 diseases could be related to those CULA. A comparison with 10 recently published cases with CULA revealed that the presented phenotype matched the descriptions in our dataset. The differential diagnosis produced using our methodology was more accurate than Phenomizer in 4 of 5 examples.
The OMT classification can be used to describe hand anomalies that may present in over 1,400 diseases. CulaPhen was developed to provide a (hand) phenotype-based differential diagnosis. Differential diagnosis formulation based on the proposed system outperforms the system in current use.
This study illustrates that the OMT diagnoses, either individually or combined, can be cross-referenced with different diseases and syndromes. Therefore, use of the OMT classification can aid differential diagnosis formulation for CULA patients.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>28669419</pmid><doi>10.1016/j.jhsa.2017.03.043</doi><orcidid>https://orcid.org/0000-0001-5173-2154</orcidid></addata></record> |
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subjects | Databases, Genetic Gene Ontology genetic disorders hand anomalies Humans Mendelian diseases OMT classification Phenotype Upper Extremity Deformities, Congenital - classification Upper Extremity Deformities, Congenital - diagnosis Upper Extremity Deformities, Congenital - genetics |
title | Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification |
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