Bardet-Biedl syndrome 7

General Information (adopted from Orphanet):

Synonyms, Signs: BBS7
Number of Symptoms 56
OrphanetNr:
OMIM Id: 615984
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
26518167 [IBIS]
Age of onset: Antenatal
Neonatal
26325687 [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-7 (BBS7) is caused by homozygous mutation in the BBS7 gene (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0001627) Abnormal heart morphology 24849935; 26325687 IBIS 19 / 7739
2
 (HPO:0000510) Rod-cone dystrophy Frequent [IBIS] 24849935; 22353939; 19797195 IBIS 266 / 7739
3
 (HPO:0000546) Retinal degeneration Frequent [IBIS] 19402160 IBIS 61 / 7739
4
 (HPO:0000556) Retinal dystrophy Frequent [IBIS] 19093007 IBIS 65 / 7739
5
 (HPO:0000548) Cone/cone-rod dystrophy Frequent [IBIS] 26518167; 26325687 IBIS 47 / 7739
6
 (HPO:0001513) Obesity Frequent [IBIS] 24849935; 22353939; 19797195; 19402160; 19093007; 26325687 IBIS 172 / 7739
7
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 26325687 IBIS 230 / 7739
8
 (HPO:0001328) Specific learning disability Frequent [IBIS] 19093007 IBIS 114 / 7739
9
 (HPO:0001249) Intellectual disability Frequent [IBIS] 22353939; 19797195 IBIS 1089 / 7739
10
 (HPO:0001256) Intellectual disability, mild 26518167; 19402160 IBIS 141 / 7739
11
 (HPO:0002342) Intellectual disability, moderate 26518167; 19402160 IBIS 37 / 7739
12
 (HPO:0010442) Polydactyly Frequent [IBIS] 26518167; 22353939; 19797195; 19402160; 19093007; 26325687 IBIS 69 / 7739
13
 (HPO:0000135) Hypogonadism Frequent [IBIS] 26518167; 19797195; 19402160 IBIS 89 / 7739
14
 (HPO:0000026) Male hypogonadism Frequent [IBIS] 24849935 IBIS 20 / 7739
15
 (HPO:0000077) Abnormality of the kidney Frequent [IBIS] 24849935; 22353939; 19797195; 19093007 IBIS 73 / 7739
16
 (HPO:0010945) Fetal pyelectasis 26325687 IBIS 1 / 7739
17
 (HPO:0007787) Posterior subcapsular cataract 22410627 IBIS 20 / 7739
18
 (HPO:0007737) Bone spicule pigmentation of the retina 22410627 IBIS 26 / 7739
19
 (HPO:0000496) Abnormality of eye movement 19093007 IBIS 79 / 7739
20
 (HPO:0000639) Nystagmus 26518167; 24849935 IBIS 555 / 7739
21
 (HPO:0000486) Strabismus 19093007; 26325687 IBIS 576 / 7739
22
 (HPO:0000545) Myopia 24849935 IBIS 286 / 7739
23
 (HPO:0000505) Visual impairment 22410627; 19402160 IBIS 297 / 7739
24
 (HPO:0000508) Ptosis 19093007 IBIS 459 / 7739
25
 (HPO:0002099) Asthma 26518167 IBIS 62 / 7739
26
 (HPO:0001608) Abnormality of the voice 19093007 IBIS 126 / 7739
27
 (HPO:0000842) Hyperinsulinemia 26518167 IBIS 39 / 7739
28
 (HPO:0100326) Immunologic hypersensitivity 22353939 IBIS 28 / 7739
29
 (HPO:0003124) Hypercholesterolemia 19402160 IBIS 53 / 7739
30
 (HPO:0002155) Hypertriglyceridemia 26518167; 19402160 IBIS 67 / 7739
31
 (HPO:0001397) Hepatic steatosis 26518167; 19402160 IBIS 75 / 7739
32
 (HPO:0000158) Macroglossia 19093007 IBIS 119 / 7739
33
 (HPO:0001324) Muscle weakness 19093007 IBIS 859 / 7739
34
 (HPO:0002251) Aganglionic megacolon 24849935 IBIS 78 / 7739
35
 (HPO:0000708) Behavioral abnormality 24849935 IBIS 212 / 7739
36
 (HPO:0000712) Emotional lability 26518167; 19093007 IBIS 44 / 7739
37
 (HPO:0000739) Anxiety 26518167 IBIS 67 / 7739
38
 (HPO:0001263) Global developmental delay 26518167; 19797195; 19402160 IBIS 853 / 7739
39
 (HPO:0011344) Severe global developmental delay 19093007 IBIS 46 / 7739
40
 (HPO:0001270) Motor delay 19093007 IBIS 322 / 7739
41
 (HPO:0000750) Delayed speech and language development 26518167; 19093007 IBIS 197 / 7739
42
 (HPO:0002354) Memory impairment 19093007 IBIS 63 / 7739
43
 (HPO:0002167) Neurological speech impairment 24849935 IBIS 308 / 7739
44
 (HPO:0001511) Intrauterine growth retardation 24849935 IBIS 358 / 7739
45
 (HPO:0001161) Hand polydactyly 24849935 IBIS 71 / 7739
46
 (HPO:0009381) Short finger 19797195 IBIS 45 / 7739
47
 (HPO:0001829) Foot polydactyly 24849935 IBIS 41 / 7739
48
 (HPO:0011927) Short digit 26518167; 24849935; 19402160 IBIS 17 / 7739
49
 (HPO:0001159) Syndactyly 26518167 IBIS 140 / 7739
50
 (HPO:0002910) Elevated hepatic transaminases 26518167; 19402160 IBIS 158 / 7739
51
 (HPO:0003241) External genital hypoplasia 22353939; 19093007 IBIS 25 / 7739
52
 (HPO:0001999) Abnormal facial shape 22353939 IBIS 169 / 7739
53
 (HPO:0002705) High, narrow palate 26518167 IBIS 308 / 7739
54
 (HPO:0000678) Dental crowding 26518167; 26325687 IBIS 65 / 7739
55
 (HPO:0000126) Hydronephrosis 26518167 IBIS 119 / 7739
56
 (HPO:0000787) Nephrolithiasis 26518167 IBIS 78 / 7739

Associated genes:

BBS7;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: