Bardet-Biedl syndrome 1

General Information (adopted from Orphanet):

Synonyms, Signs: BBS1
Number of Symptoms 64
OrphanetNr:
OMIM Id: 209900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
26518167 [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-1 (BBS1) is caused by homozygous mutation in the BBS1 gene (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0000556) Retinal dystrophy Very frequent [IBIS] 26082521 IBIS 65 / 7739
2
 (HPO:0000548) Cone/cone-rod dystrophy Frequent [IBIS] 26518167; 25982971 IBIS 47 / 7739
3
 (HPO:0000510) Rod-cone dystrophy Frequent [IBIS] 23432027; 19797195; 26082521 IBIS 266 / 7739
4
 (HPO:0001513) Obesity Frequent [IBIS] 26082521; 23432027; 19797195 IBIS 172 / 7739
5
 (HPO:0010442) Polydactyly Frequent [IBIS] 26082521; 26518167; 25982971; 23432027; 19797195 IBIS 69 / 7739
6
 (HPO:0001249) Intellectual disability Frequent [IBIS] 23432027; 19797195 IBIS 1089 / 7739
7
 (HPO:0001328) Specific learning disability Frequent [IBIS] 25982971 IBIS 114 / 7739
8
 (HPO:0000135) Hypogonadism Frequent [IBIS] 26518167; 19797195 IBIS 89 / 7739
9
 (HPO:0000077) Abnormality of the kidney Occasional [IBIS] 26082521; 19797195 IBIS 73 / 7739
10
 (HPO:0001084) Corneal arcus 26082521 IBIS 8 / 7739
11
 (HPO:0000483) Astigmatism 26082521 IBIS 67 / 7739
12
 (HPO:0000518) Cataract 26082521 IBIS 454 / 7739
13
 (HPO:0007787) Posterior subcapsular cataract 22410627 IBIS 20 / 7739
14
 (HPO:0007401) Macular atrophy 25982971 IBIS 14 / 7739
15
 (HPO:0007737) Bone spicule pigmentation of the retina 22410627 IBIS 26 / 7739
16
 (HPO:0000639) Nystagmus 26082521 IBIS 555 / 7739
17
 (HPO:0000577) Exotropia 26082521 IBIS 43 / 7739
18
 (HPO:0000545) Myopia 26082521 IBIS 286 / 7739
19
 (HPO:0007641) Dyschromatopsia 26082521 IBIS 19 / 7739
20
 (HPO:0000642) Red-green dyschromatopsia 25982971 IBIS 25 / 7739
21
 (HPO:0001123) Visual field defect 26082521 IBIS 30 / 7739
22
 (HPO:0000505) Visual impairment 22410627; 25982971; 23432027 IBIS 297 / 7739
23
 (HPO:0002099) Asthma 26082521; 26518167 IBIS 62 / 7739
24
 (HPO:0004322) Short stature 19797195 IBIS 1232 / 7739
25
 (HPO:0000842) Hyperinsulinemia 26518167 IBIS 39 / 7739
26
 (HPO:0004361) Abnormality of circulating leptin level 21209035 IBIS 2 / 7739
27
 (HPO:0003124) Hypercholesterolemia 26518167 IBIS 53 / 7739
28
 (HPO:0002155) Hypertriglyceridemia 26518167 IBIS 67 / 7739
29
 (HPO:0001397) Hepatic steatosis 26082521; 26518167 IBIS 75 / 7739
30
 (HPO:0001324) Muscle weakness 19797195 IBIS 859 / 7739
31
 (HPO:0001276) Hypertonia 26082521 IBIS 317 / 7739
32
 (HPO:0000718) Aggressive behavior 26518167 IBIS 109 / 7739
33
 (HPO:0000739) Anxiety 26518167 IBIS 67 / 7739
34
 (HPO:0001263) Global developmental delay 26082521; 26518167; 19797195 IBIS 853 / 7739
35
 (HPO:0001256) Intellectual disability, mild 26518167 IBIS 141 / 7739
36
 (HPO:0002342) Intellectual disability, moderate 26518167 IBIS 37 / 7739
37
 (HPO:0000716) Depression 26518167 IBIS 99 / 7739
38
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 26082521 IBIS 230 / 7739
39
 (HPO:0000750) Delayed speech and language development 26518167 IBIS 197 / 7739
40
 (HPO:0001250) Seizures 19797195 IBIS 1245 / 7739
41
 (HPO:0011927) Short digit 26082521; 26518167 IBIS 17 / 7739
42
 (HPO:0001159) Syndactyly 26082521; 26518167 IBIS 140 / 7739
43
 (HPO:0000248) Brachycephaly 19797195 IBIS 222 / 7739
44
 (HPO:0002910) Elevated hepatic transaminases 26518167 IBIS 158 / 7739
45
 (HPO:0002240) Hepatomegaly 26518167 IBIS 467 / 7739
46
 (HPO:0001433) Hepatosplenomegaly 26518167 IBIS 78 / 7739
47
 (HPO:0001626) Abnormality of the cardiovascular system 26082521 IBIS 73 / 7739
48
 (HPO:0000823) Delayed puberty 19797195 IBIS 65 / 7739
49
 (HPO:0000028) Cryptorchidism 26518167 IBIS 347 / 7739
50
 (HPO:0003241) External genital hypoplasia 23432027 IBIS 25 / 7739
51
 (HPO:0000119) Abnormality of the genitourinary system Occasional [IBIS] 26082521 IBIS 34 / 7739
52
 (HPO:0000689) Dental malocclusion 26518167 IBIS 114 / 7739
53
 (HPO:0000704) Periodontitis 26518167 IBIS 24 / 7739
54
 (HPO:0002705) High, narrow palate 26518167 IBIS 308 / 7739
55
 (HPO:0000164) Abnormality of the teeth 23432027 IBIS 291 / 7739
56
 (HPO:0000678) Dental crowding 26518167 IBIS 65 / 7739
57
 (HPO:0000389) Chronic otitis media 19797195 IBIS 64 / 7739
58
 (HPO:0000126) Hydronephrosis 26518167 IBIS 119 / 7739
59
 (HPO:0000107) Renal cyst 26518167 IBIS 126 / 7739
60
 (HPO:0000819) Diabetes mellitus 26518167; 23432027 IBIS 131 / 7739
61
 (HPO:0005978) Type II diabetes mellitus 26082521 IBIS 68 / 7739
62
 (HPO:0000365) Hearing impairment 26082521 IBIS 539 / 7739
63
 (HPO:0040049) Macular edema 26082521 IBIS 5 / 7739
64
 (HPO:0030529) Ring scotoma 26082521 IBIS 1 / 7739

Associated genes:

BBS1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: