Bardet-Biedl syndrome 8
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BBS8 |
| Number of Symptoms | 18 |
| OrphanetNr: | |
| OMIM Id: |
615985
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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: | 6 families - PMID: 16308660 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 16308660 [IBIS] |
| Age of onset: |
Childhood - PMID: 23432027 [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-8 (BBS8) is caused by homozygous mutations in the TTC8 gene (OMIM). |
Symptom Information:
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(HPO:0000510) | Rod-cone dystrophy | Frequent [IBIS] | 23432027; 16308660; 19797195 | IBIS | 266 / 7739 | |
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(HPO:0001513) | Obesity | Frequent [IBIS] | 23432027; 19797195 | IBIS | 172 / 7739 | |
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(HPO:0001249) | Intellectual disability | Frequent [IBIS] | 19797195 | IBIS | 1089 / 7739 | |
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(HPO:0100543) | Cognitive impairment | Frequent [IBIS] | 16308660 | IBIS | 230 / 7739 | |
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(HPO:0010442) | Polydactyly | Frequent [IBIS] | 23432027; 16308660; 19797195 | IBIS | 69 / 7739 | |
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(HPO:0000135) | Hypogonadism | Frequent [IBIS] | 19797195 | IBIS | 89 / 7739 | |
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(HPO:0000077) | Abnormality of the kidney | Frequent [IBIS] | 23432027 | IBIS | 73 / 7739 | |
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(HPO:0001696) | Situs inversus totalis | 14520415 | IBIS | 44 / 7739 | ||
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(HPO:0000822) | Hypertension | 23432027 | IBIS | 224 / 7739 | ||
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(HPO:0001324) | Muscle weakness | 19797195 | IBIS | 859 / 7739 | ||
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(HPO:0001263) | Global developmental delay | 19797195 | IBIS | 853 / 7739 | ||
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(HPO:0000248) | Brachycephaly | 19797195 | IBIS | 222 / 7739 | ||
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(HPO:0000054) | Micropenis | 16308660 | IBIS | 257 / 7739 | ||
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(HPO:0003241) | External genital hypoplasia | 23432027 | IBIS | 25 / 7739 | ||
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(HPO:0000164) | Abnormality of the teeth | 23432027 | IBIS | 291 / 7739 | ||
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(HPO:0000110) | Renal dysplasia | 16308660 | IBIS | 44 / 7739 | ||
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(HPO:0000083) | Renal insufficiency | 16308660 | IBIS | 232 / 7739 | ||
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(HPO:0030010) | Hydrometrocolpos | 16308660 | IBIS | 6 / 7739 |
Associated genes:
| TTC8; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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