CIDeRplusGeneral Information:
| Id: | 14,513 |
| Diseases: |
Hearing loss
Neurological Sensorineural deafness |
| Homo sapiens | |
| article/cited | |
| Reference: | [PMID: 27125467] |
Interaction Information:
| Comment | Distal deletion of the chromosome 10 long arm with breakpoints near 10q26 is an established diagnostic entity (OMIM609625). Up to date, twenty‚Äźthree reported 10q26 deletion cases were diagnosed by array testing. The size of the deleted region varies greatly among patients, ranging from 3.5 to 17.4‚ÄČMb. Through comparing clinical presentation and the genomic content of the deletion in different individuals, multiple genomic regions and genes have been proposed to be responsible for specific features, such as developmental delay, intellectual disability, craniofacial features, hearing loss, neurobehavioral concerns, cardiac, and urogenital abnormalities. (cited information) |
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Formal Description Interaction-ID: 136919 |
affects_activity of phenotype developmental delay |
| Comment | The 5.5‚ÄČMb interstitial deletion identified in the proband for this paper overlaps with ten array‚Äźbased 10q26 deletions. Hearing loss is a main clinical feature of this proband, who failed newborn hearing screen and was confirmed to have mild sensorineural hearing loss in the right ear and severe to profound sensorineural hearing loss in the left ear. Hearing loss is also seen in other 10q26 deletion cases. |
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Formal Description Interaction-ID: 136920 |
increases_activity of phenotype |
| Comment | Miller et al. postulated that a 2.5Mb region on 10q26.12q26.13 deleted in both of their patients with hearing loss is the critical region for deafness. This region contains over 20 genes, including FGFR2, ARMS2, HTRA1, ACADSB and PLEKHA1. (cited information) |
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Formal Description Interaction-ID: 136921 |
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| Drugbank entries | Show/Hide entries for PLEKHA1 |
| Comment | Distal deletion of the chromosome 10 long arm with breakpoints near 10q26 is an established diagnostic entity (OMIM609625). Up to date, twenty‚Äźthree reported 10q26 deletion cases were diagnosed by array testing. The size of the deleted region varies greatly among patients, ranging from 3.5 to 17.4‚ÄČMb. Through comparing clinical presentation and the genomic content of the deletion in different individuals, multiple genomic regions and genes have been proposed to be responsible for specific features, such as developmental delay, intellectual disability, craniofacial features, hearing loss, neurobehavioral concerns, cardiac, and urogenital abnormalities. (cited information) |
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Formal Description Interaction-ID: 136922 |
affects_activity of phenotype intellectual disability |
| Comment | Distal deletion of the chromosome 10 long arm with breakpoints near 10q26 is an established diagnostic entity (OMIM609625). Up to date, twenty‚Äźthree reported 10q26 deletion cases were diagnosed by array testing. The size of the deleted region varies greatly among patients, ranging from 3.5 to 17.4‚ÄČMb. Through comparing clinical presentation and the genomic content of the deletion in different individuals, multiple genomic regions and genes have been proposed to be responsible for specific features, such as developmental delay, intellectual disability, craniofacial features, hearing loss, neurobehavioral concerns, cardiac, and urogenital abnormalities. (cited information) |
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Formal Description Interaction-ID: 136923 |
affects_activity of phenotype altered craniofacial features |
| Comment | Distal deletion of the chromosome 10 long arm with breakpoints near 10q26 is an established diagnostic entity (OMIM609625). Up to date, twenty‚Äźthree reported 10q26 deletion cases were diagnosed by array testing. The size of the deleted region varies greatly among patients, ranging from 3.5 to 17.4‚ÄČMb. Through comparing clinical presentation and the genomic content of the deletion in different individuals, multiple genomic regions and genes have been proposed to be responsible for specific features, such as developmental delay, intellectual disability, craniofacial features, hearing loss, neurobehavioral concerns, cardiac, and urogenital abnormalities. (cited information) |
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Formal Description Interaction-ID: 136924 |
affects_activity of phenotype |
| Comment | Distal deletion of the chromosome 10 long arm with breakpoints near 10q26 is an established diagnostic entity (OMIM609625). Up to date, twenty‚Äźthree reported 10q26 deletion cases were diagnosed by array testing. The size of the deleted region varies greatly among patients, ranging from 3.5 to 17.4‚ÄČMb. Through comparing clinical presentation and the genomic content of the deletion in different individuals, multiple genomic regions and genes have been proposed to be responsible for specific features, such as developmental delay, intellectual disability, craniofacial features, hearing loss, neurobehavioral concerns, cardiac, and urogenital abnormalities. (cited information) |
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Formal Description Interaction-ID: 136925 |
affects_activity of phenotype |
| Comment | Distal deletion of the chromosome 10 long arm with breakpoints near 10q26 is an established diagnostic entity (OMIM609625). Up to date, twenty‚Äźthree reported 10q26 deletion cases were diagnosed by array testing. The size of the deleted region varies greatly among patients, ranging from 3.5 to 17.4‚ÄČMb. Through comparing clinical presentation and the genomic content of the deletion in different individuals, multiple genomic regions and genes have been proposed to be responsible for specific features, such as developmental delay, intellectual disability, craniofacial features, hearing loss, neurobehavioral concerns, cardiac, and urogenital abnormalities. (cited information) |
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Formal Description Interaction-ID: 136926 |
affects_activity of phenotype abnormal urogenital morphology |
| Comment | Miller et al. postulated that a 2.5Mb region on 10q26.12q26.13 deleted in both of their patients with hearing loss is the critical region for deafness. This region contains over 20 genes, including FGFR2, ARMS2, HTRA1, ACADSB and PLEKHA1. (cited information) |
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Formal Description Interaction-ID: 136927 |
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| Drugbank entries | Show/Hide entries for FGFR2 |
| Comment | Miller et al. postulated that a 2.5Mb region on 10q26.12q26.13 deleted in both of their patients with hearing loss is the critical region for deafness. This region contains over 20 genes, including FGFR2, ARMS2, HTRA1, ACADSB and PLEKHA1. (cited information) |
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Formal Description Interaction-ID: 136928 |
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| Comment | Miller et al. postulated that a 2.5Mb region on 10q26.12q26.13 deleted in both of their patients with hearing loss is the critical region for deafness. This region contains over 20 genes, including FGFR2, ARMS2, HTRA1, ACADSB and PLEKHA1. (cited information) |
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Formal Description Interaction-ID: 136929 |
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| Comment | Miller et al. postulated that a 2.5Mb region on 10q26.12q26.13 deleted in both of their patients with hearing loss is the critical region for deafness. This region contains over 20 genes, including FGFR2, ARMS2, HTRA1, ACADSB and PLEKHA1. (cited information) |
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Formal Description Interaction-ID: 136930 |
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| Drugbank entries | Show/Hide entries for ACADSB |
| Comment | The 5.5‚ÄČMb interstitial deletion identified in the proband for this paper overlaps with ten array‚Äźbased 10q26 deletions. Hearing loss is a main clinical feature of this proband, who failed newborn hearing screen and was confirmed to have mild sensorineural hearing loss in the right ear and severe to profound sensorineural hearing loss in the left ear. Hearing loss is also seen in other 10q26 deletion cases. |
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Formal Description Interaction-ID: 137087 |
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