Bardet-Biedl syndrome 19
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BBS19 |
| Number of Symptoms | 9 |
| OrphanetNr: | |
| OMIM Id: |
615996
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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: | 2 cases - PMID: 24488770 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 24488770 [IBIS] |
| Age of onset: |
Neonatal - PMID: 24488770 [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-19 (BBS19) can be caused by homozygous mutation in the IFT27 gene (OMIM). |
Symptom Information:
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(HPO:0000510) | Rod-cone dystrophy | Frequent [IBIS] | 24488770 | IBIS | 266 / 7739 | |
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(HPO:0001513) | Obesity | Frequent [IBIS] | 24488770 | IBIS | 172 / 7739 | |
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(HPO:0001256) | Intellectual disability, mild | Frequent [IBIS] | 24488770 | IBIS | 141 / 7739 | |
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(HPO:0010442) | Polydactyly | Frequent [IBIS] | 24488770 | IBIS | 69 / 7739 | |
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(HPO:0100326) | Immunologic hypersensitivity | 24488770 | IBIS | 28 / 7739 | ||
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(HPO:0001397) | Hepatic steatosis | 24488770 | IBIS | 75 / 7739 | ||
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(HPO:0004409) | Hyposmia | 24488770 | IBIS | 16 / 7739 | ||
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(HPO:0003241) | External genital hypoplasia | 24488770 | IBIS | 25 / 7739 | ||
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(HPO:0000083) | Renal insufficiency | 24488770 | IBIS | 232 / 7739 |
Associated genes:
| IFT27; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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