Bardet-Biedl syndrome 16

General Information (adopted from Orphanet):

Synonyms, Signs: BBS16
Number of Symptoms 17
OrphanetNr:
OMIM Id: 615993
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Monogenic
22190896 [IBIS]
Age of onset: Childhood
22626039 [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-16 (BBS16) is caused by homozygous or compound heterozygous mutations in the SDCCAG8 gene (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0000556) Retinal dystrophy Frequent [IBIS] 22626039 IBIS 65 / 7739
2
 (HPO:0000548) Cone/cone-rod dystrophy Frequent [IBIS] 22190896 IBIS 47 / 7739
3
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 22626039 IBIS 230 / 7739
4
 (HPO:0001513) Obesity Frequent [IBIS] 22626039; 22190896 IBIS 172 / 7739
5
 (HPO:0003241) External genital hypoplasia 22190896 IBIS 25 / 7739
6
 (HPO:0003774) Stage 5 chronic kidney disease 22626039; 22190896 IBIS 78 / 7739
7
 (HPO:0000405) Conductive hearing impairment 22190896 IBIS 164 / 7739
8
 (HPO:0001276) Hypertonia 22626039 IBIS 317 / 7739
9
 (HPO:0001263) Global developmental delay 22190896 IBIS 853 / 7739
10
 (HPO:0004691) 2-3 toe syndactyly 22626039 IBIS 50 / 7739
11
 (HPO:0002750) Delayed skeletal maturation 22626039 IBIS 250 / 7739
12
 (HPO:0001397) Hepatic steatosis 22626039 IBIS 75 / 7739
13
 (HPO:0004322) Short stature 22626039 IBIS 1232 / 7739
14
 (HPO:0002093) Respiratory insufficiency 22190896 IBIS 410 / 7739
15
 (HPO:0006532) Recurrent pneumonia 22626039 IBIS 48 / 7739
16
 (HPO:0002099) Asthma 22626039; 22190896 IBIS 62 / 7739
17
 (HPO:0011947) Respiratory tract infection 22190896 IBIS 28 / 7739

Associated genes:

SDCCAG8;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: