Bardet-Biedl syndrome 18
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BBS18 |
| Number of Symptoms | 7 |
| OrphanetNr: | |
| OMIM Id: |
615995
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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 cases - PMID: 24026985 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 24026985 [IBIS] |
| Age of onset: |
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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-18 (BBS18) can be caused by homozygous mutation in the BBIP1 gene (OMIM). |
Symptom Information:
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(HPO:0000510) | Rod-cone dystrophy | Frequent [IBIS] | 24026985 | IBIS | 266 / 7739 | |
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(HPO:0100543) | Cognitive impairment | Frequent [IBIS] | 24026985 | IBIS | 230 / 7739 | |
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(HPO:0001513) | Obesity | Frequent [IBIS] | 24026985 | IBIS | 172 / 7739 | |
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(HPO:0000083) | Renal insufficiency | 24026985 | IBIS | 232 / 7739 | ||
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(HPO:0000518) | Cataract | 24026985 | IBIS | 454 / 7739 | ||
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(HPO:0000505) | Visual impairment | 24026985 | IBIS | 297 / 7739 | ||
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(HPO:0011927) | Short digit | 24026985 | IBIS | 17 / 7739 |
Associated genes:
| BBIP1; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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