OROFACIAL CLEFT 10
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 10 OFC10 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
613705
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0100334) | Unilateral cleft palate | 1 / 7739 | ||||
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(HPO:0100333) | Unilateral cleft lip | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM | Alkuraya et al. (2006) identified a 5-year-old Caucasian girl with a unilateral cleft lip and palate (primary and secondary) who was otherwise phenotypically normal. Her karyotype was 46,XX,t(2;8)(q33.1;q24.3), and array CGH analysis was normal. |
| Molecular genetics OMIM | Alkuraya et al. (2006) showed that the balanced translocation in a girl with orofacial cleft disrupted the SUMO1 gene, leading to haploinsufficiency confirmed by RNA and protein studies (601912.0001). |