Bardet-Biedl syndrome 13
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BBS13 |
| Number of Symptoms | 13 |
| OrphanetNr: | |
| OMIM Id: |
615990
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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: | 3 cases - PMID: 24608809; 18327255; 22353939 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 24608809 [IBIS] |
| Age of onset: |
Childhood - PMID: 18327255 [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:
| Bardet-Biedl syndrome-13 (BBS13) is caused by compound heterozygous mutation in the MKS1 gene (OMIM). Each BBS patient in this study displayed typical symptoms such as retinitis pigmentosa, obesity, and polydactyly. BBS was diagnosed primarily by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, cognitive impairment, and delayed development of motor skills. Compound heterozygous MKS1 mutations (c.1382A.G, c.1601G.A) were revealed in pedigree RP467 (PMID:24608809). |
Symptom Information:
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(HPO:0000510) | Rod-cone dystrophy | Frequent [IBIS] | 24608809 | IBIS | 266 / 7739 | |
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(HPO:0001513) | Obesity | Frequent [IBIS] | 24608809; 18327255; 22353939 | IBIS | 172 / 7739 | |
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(HPO:0100543) | Cognitive impairment | Frequent [IBIS] | 24608809 | IBIS | 230 / 7739 | |
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(HPO:0010442) | Polydactyly | Frequent [IBIS] | 24608809; 18327255; 22353939 | IBIS | 69 / 7739 | |
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(HPO:0000077) | Abnormality of the kidney | Frequent [IBIS] | 22353939 | IBIS | 73 / 7739 | |
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(HPO:0000639) | Nystagmus | 18327255 | IBIS | 555 / 7739 | ||
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(HPO:0100326) | Immunologic hypersensitivity | 22353939 | IBIS | 28 / 7739 | ||
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(HPO:0000458) | Anosmia | 22353939 | IBIS | 49 / 7739 | ||
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(HPO:0001270) | Motor delay | 24608809 | IBIS | 322 / 7739 | ||
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(HPO:0001392) | Abnormality of the liver | 22353939 | IBIS | 28 / 7739 | ||
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(HPO:0001626) | Abnormality of the cardiovascular system | 22353939 | IBIS | 73 / 7739 | ||
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(HPO:0003241) | External genital hypoplasia | 24608809 | IBIS | 25 / 7739 | ||
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(HPO:0001999) | Abnormal facial shape | 22353939 | IBIS | 169 / 7739 |
Associated genes:
| MKS1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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