Bardet-Biedl syndrome 11
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BBS11 |
| Number of Symptoms | 7 |
| OrphanetNr: | |
| OMIM Id: |
615988
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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: | 1 family - PMID: 16606853 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 16606853 [IBIS] |
| Age of onset: |
Antenatal Neonatal - PMID: 16606853 [IBIS] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Bardet-Biedl syndrome
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare endocrine disease -Rare eye disease -Rare genetic disease -Rare gynecologic or obstetric disease -Rare renal disease |
Comment:
| Mutation analysis in the region of homozygosity identified a conserved homozygous missense mutation in the TRIM32 gene, a gene coding for an E3 ubiquitin ligase. Functional analysis of this gene in zebrafish and expression correlation analyses among other BBS genes in an expression quantitative trait loci data set demonstrate that TRIM32 is a BBS gene (PMID:16606853). |
Symptom Information:
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(HPO:0001627) | Abnormal heart morphology | 16606853 | IBIS | 19 / 7739 | ||
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(HPO:0000510) | Rod-cone dystrophy | Frequent [IBIS] | 16606853 | IBIS | 266 / 7739 | |
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(HPO:0001513) | Obesity | Frequent [IBIS] | 16606853 | IBIS | 172 / 7739 | |
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(HPO:0100543) | Cognitive impairment | Frequent [IBIS] | 16606853 | IBIS | 230 / 7739 | |
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(HPO:0010442) | Polydactyly | Frequent [IBIS] | 16606853 | IBIS | 69 / 7739 | |
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(HPO:0000135) | Hypogonadism | Frequent [IBIS] | 16606853 | IBIS | 89 / 7739 | |
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(HPO:0000077) | Abnormality of the kidney | Frequent [IBIS] | 16606853 | IBIS | 73 / 7739 |
Associated genes:
| TRIM32; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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