Bardet-Biedl syndrome 14
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BBS14 |
| Number of Symptoms | 6 |
| OrphanetNr: | |
| OMIM Id: |
615991
|
| ICD-10: |
|
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | 1 cases - PMID: 18327255 [IBIS] |
| Inheritance: |
Autosomal recessive - PMID: 18327255 [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-14 (BBS14) is caused by homozygous mutation in the CEP290 gene. One such patient has been reported, the proband also carried a complex allele of the TMEM67 (MKS3) gene in heterozygosity (OMIM). In a consanguineous Saudi Arabian family (KK51) with a complex TMEM67 (MKS3) allele, a homozygous nonsense mutation was found in the proband, encoding the amino acid alteration E1903X, that was predicted to truncate the C-terminal 576 amino acids of CEP290. This allele was not present in 96 ethnically matched controls, in 184 European-descended controls or in any publicly available SNP database, suggesting that mutations in CEP290 can also be associated causally with BBS, defining the 14th locus for the disorder and extending the CEP290 disease spectrum (PMID:18327255). |
Symptom Information:
|
|
(HPO:0000510) | Rod-cone dystrophy | Frequent [IBIS] | 18327255 | IBIS | 266 / 7739 | |
|
|
(HPO:0001513) | Obesity | Frequent [IBIS] | 18327255 | IBIS | 172 / 7739 | |
|
|
(HPO:0100543) | Cognitive impairment | Frequent [IBIS] | 18327255 | IBIS | 230 / 7739 | |
|
|
(HPO:0000077) | Abnormality of the kidney | Frequent [IBIS] | 18327255 | IBIS | 73 / 7739 | |
|
|
(HPO:0000639) | Nystagmus | 18327255 | IBIS | 555 / 7739 | ||
|
|
(HPO:0001263) | Global developmental delay | 18327255 | IBIS | 853 / 7739 |
Associated genes:
| CEP290; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|