Bardet-Biedl syndrome 10
General Information (adopted from Orphanet):
Synonyms, Signs: |
BBS10 |
Number of Symptoms | 76 |
OrphanetNr: | |
OMIM Id: |
615987
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal recessive 20472660 [IBIS] |
Age of onset: |
Infancy Childhood 26082521 [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-10 (BBS10) is caused by homozygous or compound heterozygous mutation in the BBS10 gene (OMIM). We initially mapped a novel BBS locus to chromosome 12q21.2 and then detected inactivating mutations in FLJ23560 in five BBS kindreds. Thus, our study confirms that FLJ23560 is the BBS10 gene (PMID:17106446). |
Symptom Information:
|
(HPO:0000510) | Rod-cone dystrophy | Frequent [IBIS] | 23403234; 23219996; 19797195 | IBIS | 266 / 7739 | |
|
(HPO:0000556) | Retinal dystrophy | Very frequent [IBIS] | 20472660; 26082521 | IBIS | 65 / 7739 | |
|
(HPO:0000548) | Cone/cone-rod dystrophy | Frequent [IBIS] | 26518167; 25982971 | IBIS | 47 / 7739 | |
|
(HPO:0001513) | Obesity | Frequent [IBIS] | 20472660; 26082521; 25982971; 23403234; 23219996; 19797195 | IBIS | 172 / 7739 | |
|
(HPO:0001956) | Truncal obesity | Frequent [IBIS] | 17106446 | IBIS | 39 / 7739 | |
|
(HPO:0001328) | Specific learning disability | Frequent [IBIS] | 23403234 | IBIS | 114 / 7739 | |
|
(HPO:0001256) | Intellectual disability, mild | 26518167 | IBIS | 141 / 7739 | ||
|
(HPO:0002342) | Intellectual disability, moderate | 26518167; 17106446 | IBIS | 37 / 7739 | ||
|
(HPO:0100543) | Cognitive impairment | Frequent [IBIS] | 20472660; 26082521; 23219996 | IBIS | 230 / 7739 | |
|
(HPO:0000135) | Hypogonadism | Frequent [IBIS] | 26518167; 25982971; 23403234; 19797195 | IBIS | 89 / 7739 | |
|
(HPO:0000077) | Abnormality of the kidney | Frequent [IBIS] | 26082521 | IBIS | 73 / 7739 | |
|
(HPO:0012210) | Abnormal renal morphology | Frequent [IBIS] | 20472660 | IBIS | 18 / 7739 | |
|
(HPO:0010442) | Polydactyly | Very frequent [IBIS] | 26082521; 26518167; 25982971; 23219996; 17106446; 19797195 | IBIS | 69 / 7739 | |
|
(HPO:0000119) | Abnormality of the genitourinary system | Frequent [IBIS] | 26082521 | IBIS | 34 / 7739 | |
|
(HPO:0007401) | Macular atrophy | 25982971 | IBIS | 14 / 7739 | ||
|
(HPO:0000483) | Astigmatism | 23403234; 17106446 | IBIS | 67 / 7739 | ||
|
(HPO:0007787) | Posterior subcapsular cataract | 22410627 | IBIS | 20 / 7739 | ||
|
(HPO:0007737) | Bone spicule pigmentation of the retina | 22410627 | IBIS | 26 / 7739 | ||
|
(HPO:0000639) | Nystagmus | 26082521 | IBIS | 555 / 7739 | ||
|
(HPO:0000545) | Myopia | 26518167; 23403234 | IBIS | 286 / 7739 | ||
|
(HPO:0007641) | Dyschromatopsia | 25982971 | IBIS | 19 / 7739 | ||
|
(HPO:0000642) | Red-green dyschromatopsia | 25982971 | IBIS | 25 / 7739 | ||
|
(HPO:0000662) | Nyctalopia | 23403234; 17106446 | IBIS | 92 / 7739 | ||
|
(HPO:0000613) | Photophobia | 25982971 | IBIS | 158 / 7739 | ||
|
(HPO:0000505) | Visual impairment | 22410627; 25982971; 17106446 | IBIS | 297 / 7739 | ||
|
(HPO:0002099) | Asthma | 20472660; 26518167 | IBIS | 62 / 7739 | ||
|
(HPO:0000842) | Hyperinsulinemia | 26518167 | IBIS | 39 / 7739 | ||
|
(HPO:0004361) | Abnormality of circulating leptin level | 21209035 | IBIS | 2 / 7739 | ||
|
(HPO:0000010) | Recurrent urinary tract infections | 17106446 | IBIS | 56 / 7739 | ||
|
(HPO:0003119) | Abnormality of lipid metabolism | 20472660 | IBIS | 60 / 7739 | ||
|
(HPO:0003124) | Hypercholesterolemia | 26518167 | IBIS | 53 / 7739 | ||
|
(HPO:0002155) | Hypertriglyceridemia | 26518167 | IBIS | 67 / 7739 | ||
|
(HPO:0100962) | Shyness | 23403234 | IBIS | 2 / 7739 | ||
|
(HPO:0000718) | Aggressive behavior | 26518167 | IBIS | 109 / 7739 | ||
|
(HPO:0000739) | Anxiety | 23403234 | IBIS | 67 / 7739 | ||
|
(HPO:0007018) | Attention deficit hyperactivity disorder | 17106446 | IBIS | 56 / 7739 | ||
|
(HPO:0001263) | Global developmental delay | 20472660; 26082521; 26518167; 23403234 | IBIS | 853 / 7739 | ||
|
(HPO:0001270) | Motor delay | 17106446 | IBIS | 322 / 7739 | ||
|
(HPO:0000716) | Depression | 26518167 | IBIS | 99 / 7739 | ||
|
(HPO:0001959) | Polydipsia | 25982971 | IBIS | 43 / 7739 | ||
|
(HPO:0010535) | Sleep apnea | 26518167 | IBIS | 24 / 7739 | ||
|
(HPO:0000750) | Delayed speech and language development | 26518167; 17106446 | IBIS | 197 / 7739 | ||
|
(HPO:0001250) | Seizures | 26518167 | IBIS | 1245 / 7739 | ||
|
(HPO:0011297) | Abnormality of digit | 20472660 | IBIS | 4 / 7739 | ||
|
(HPO:0001162) | Postaxial hand polydactyly | 23403234; 23219996 | IBIS | 119 / 7739 | ||
|
(HPO:0001830) | Postaxial foot polydactyly | 23219996 | IBIS | 37 / 7739 | ||
|
(HPO:0004691) | 2-3 toe syndactyly | 23219996 | IBIS | 50 / 7739 | ||
|
(HPO:0011927) | Short digit | 26082521; 26518167; 17106446 | IBIS | 17 / 7739 | ||
|
(HPO:0001159) | Syndactyly | 26082521; 26518167; 17106446 | IBIS | 140 / 7739 | ||
|
(HPO:0001392) | Abnormality of the liver | 20472660 | IBIS | 28 / 7739 | ||
|
(HPO:0002910) | Elevated hepatic transaminases | 20472660; 26518167; 23403234 | IBIS | 158 / 7739 | ||
|
(HPO:0001626) | Abnormality of the cardiovascular system | 26082521 | IBIS | 73 / 7739 | ||
|
(HPO:0000054) | Micropenis | 23403234; 17106446 | IBIS | 257 / 7739 | ||
|
(HPO:0000028) | Cryptorchidism | 20472660; 23403234; 17106446 | IBIS | 347 / 7739 | ||
|
(HPO:0003241) | External genital hypoplasia | 17106446 | IBIS | 25 / 7739 | ||
|
(HPO:0000812) | Abnormal internal genitalia | 20472660 | IBIS | 5 / 7739 | ||
|
(HPO:0000140) | Abnormality of the menstrual cycle | 20472660 | IBIS | 7 / 7739 | ||
|
(HPO:0000141) | Amenorrhea | 25982971 | IBIS | 16 / 7739 | ||
|
(HPO:0000148) | Vaginal atresia | 20472660 | IBIS | 16 / 7739 | ||
|
(HPO:0000798) | Oligospermia | 25982971 | IBIS | 13 / 7739 | ||
|
(HPO:0000689) | Dental malocclusion | 26518167 | IBIS | 114 / 7739 | ||
|
(HPO:0000311) | Round face | 17106446 | IBIS | 104 / 7739 | ||
|
(HPO:0000704) | Periodontitis | 26518167 | IBIS | 24 / 7739 | ||
|
(HPO:0002705) | High, narrow palate | 26518167 | IBIS | 308 / 7739 | ||
|
(HPO:0000682) | Abnormality of dental enamel | 26518167 | IBIS | 102 / 7739 | ||
|
(HPO:0000678) | Dental crowding | 26518167 | IBIS | 65 / 7739 | ||
|
(HPO:0000956) | Acanthosis nigricans | 20472660 | IBIS | 54 / 7739 | ||
|
(HPO:0000020) | Urinary incontinence | 17106446 | IBIS | 75 / 7739 | ||
|
(HPO:0000126) | Hydronephrosis | 26518167 | IBIS | 119 / 7739 | ||
|
(HPO:0000107) | Renal cyst | 26518167 | IBIS | 126 / 7739 | ||
|
(HPO:0012211) | Abnormal renal physiology | 20472660 | IBIS | 23 / 7739 | ||
|
(HPO:0012303) | Abnormality of the aortic arch | 26518167 | IBIS | 57 / 7739 | ||
|
(HPO:0000819) | Diabetes mellitus | 20472660; 26518167; 25982971 | IBIS | 131 / 7739 | ||
|
(HPO:0002135) | Basal ganglia calcification | 23403234 | IBIS | 37 / 7739 | ||
|
(HPO:0000365) | Hearing impairment | 20472660; 26518167 | IBIS | 539 / 7739 | ||
|
(HPO:0030010) | Hydrometrocolpos | 20472660 | IBIS | 6 / 7739 |
Associated genes:
BBS10; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|