Bardet-Biedl syndrome 17

General Information (adopted from Orphanet):

Synonyms, Signs: BBS17
Number of Symptoms 36
OrphanetNr:
OMIM Id: 615994
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases
Inheritance: Autosomal recessive
22510444 [IBIS]
Age of onset: Childhood
22510444 [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-17 (BBS17) is caused by homozygous or compound heterozygous mutation in the LZTFL1 gene (OMIM).

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy Frequent [IBIS] 23692385 IBIS 266 / 7739
2
 (HPO:0000546) Retinal degeneration Frequent [IBIS] 22510444 IBIS 61 / 7739
3
 (HPO:0100543) Cognitive impairment Frequent [IBIS] 22510444; 23692385; 17163542 IBIS 230 / 7739
4
 (HPO:0000135) Hypogonadism Frequent [IBIS] 22510444; 17163542 IBIS 89 / 7739
5
 (HPO:0001513) Obesity Frequent [IBIS] 22510444; 17163542 IBIS 172 / 7739
6
 (HPO:0100259) Postaxial polydactyly Frequent [IBIS] 23692385; 17163542 IBIS 85 / 7739
7
 (HPO:0001830) Postaxial foot polydactyly 23692385; 17163542 IBIS 37 / 7739
8
 (HPO:0001162) Postaxial hand polydactyly 23692385 IBIS 119 / 7739
9
 (HPO:0000103) Polyuria 22510444; 23692385; 17163542 IBIS 60 / 7739
10
 (HPO:0012594) Microalbuminuria 17163542 IBIS 6 / 7739
11
 (HPO:0000083) Renal insufficiency 22510444; 23692385; 17163542 IBIS 232 / 7739
12
 (HPO:0012211) Abnormal renal physiology 23692385 IBIS 23 / 7739
13
 (HPO:0005562) Multiple renal cysts 23692385 IBIS 16 / 7739
14
 (HPO:0000343) Long philtrum 17163542 IBIS 262 / 7739
15
 (HPO:0000218) High palate 17163542 IBIS 356 / 7739
16
 (HPO:0000470) Short neck 17163542 IBIS 345 / 7739
17
 (HPO:0000316) Hypertelorism 17163542 IBIS 644 / 7739
18
 (HPO:0010632) Total anosmia 23692385 IBIS 6 / 7739
19
 (HPO:0000463) Anteverted nares 17163542 IBIS 305 / 7739
20
 (HPO:0000678) Dental crowding 17163542 IBIS 65 / 7739
21
 (HPO:0004409) Hyposmia 23692385 IBIS 16 / 7739
22
 (HPO:0000219) Thin upper lip vermilion 17163542 IBIS 112 / 7739
23
 (HPO:0012368) Flat face 17163542 IBIS 106 / 7739
24
 (HPO:0005272) Prominent nasolabial fold 17163542 IBIS 4 / 7739
25
 (HPO:0000494) Downslanted palpebral fissures 17163542 IBIS 328 / 7739
26
 (HPO:0007641) Dyschromatopsia 17163542 IBIS 19 / 7739
27
 (HPO:0000662) Nyctalopia 17163542 IBIS 92 / 7739
28
 (HPO:0000618) Blindness 17163542 IBIS 124 / 7739
29
 (HPO:0001959) Polydipsia 22510444; 23692385; 17163542 IBIS 43 / 7739
30
 (HPO:0001263) Global developmental delay 17163542 IBIS 853 / 7739
31
 (HPO:0005819) Short middle phalanx of finger 17163542 IBIS 28 / 7739
32
 (HPO:0006042) Y-shaped metacarpals 17163542 IBIS 3 / 7739
33
 (HPO:0004209) Clinodactyly of the 5th finger 17163542 IBIS 288 / 7739
34
 (HPO:0006159) Mesoaxial hand polydactyly 22510444; 23692385; 17163542 IBIS 5 / 7739
35
 (HPO:0009381) Short finger 17163542 IBIS 45 / 7739
36
 (HPO:0001696) Situs inversus totalis 22510444; 17163542 IBIS 44 / 7739

Associated genes:

LZTFL1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: