ORPHA:110

Bardet-Biedl syndrome

Synonyms: BBS

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive, Oligogenic
Age of onset: Antenatal, Childhood, Infancy, Neonatal
Status: active

A rare genetic multisystem disorder characterized by the variable association of retinal dystrophy, obesity, polydactyly, genitourinary and kidney anomalies, learning disability and hypogonadism, with a wide spectrum of other minor manifestations.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Bardet-Biedl syndrome	BBS
fr	Syndrome de Bardet-Biedl	= en
de	Bardet-Biedl-Syndrom	= en
es	Síndrome de Bardet-Biedl	= en
it	Sindrome di Bardet-Biedl	= en
nl	Syndroom van Bardet-Biedl	= en
pt	Síndrome Bardet-Biedl	= en
pl	Zespół Bardeta i Biedla	= en
cs	Bardetův-Biedlův syndrom	BBS · Bardet-Biedlův syndrom
uk	Синдром Барде-Бідля	= en
zh	Bardet-Biedl综合征	= en
tr	Bardet-Biedl sendromu	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	209900	BTNT		validated
OMIM	600151	BTNT		validated
OMIM	605231	BTNT		validated
OMIM	615981	BTNT		validated
OMIM	615982	BTNT		validated
OMIM	615983	BTNT		validated
OMIM	615984	BTNT		validated
OMIM	615985	BTNT		validated
OMIM	615986	BTNT		validated
OMIM	615987	BTNT		validated
OMIM	615988	BTNT		validated
OMIM	615989	BTNT		validated
OMIM	615990	BTNT		validated
OMIM	615991	BTNT		validated
OMIM	615992	BTNT		validated
OMIM	615993	BTNT		validated
OMIM	615994	BTNT		validated
OMIM	615995	BTNT		validated
OMIM	615996	BTNT		validated
OMIM	617119	BTNT		validated
OMIM	617406	BTNT		validated
OMIM	619471	BTNT		validated
ICD-10	Q87.8	NTBT	inclusion	validated
ICD-11	5A61.0	NTBT	index	validated
MONDO	0015229	E		validated
MeSH	D020788	E		validated
UMLS	C0752166	E		validated
GARD	6866	E		validated
MedDRA	10056715	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (13):

ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases
ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
ORPHA:104009Rare disease involving intestinal motility
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
ORPHA:557866Rare disorder with Hirschsprung disease as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
ORPHA:399846Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
rare genetic diseases; rare infertility disorders
ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases
ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
ORPHA:156162Renal ciliopathy
rare genetic diseases
ORPHA:156183Retinal ciliopathy due to mutation in Bardet-Biedl gene
rare genetic diseases
ORPHA:156180Retinal ciliopathy due to mutation in nephronophthisis gene
rare genetic diseases
ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases

No children.

Genes

26 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CEP19	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:28209	ENSG00000174007	615586	3q29	centrosomal protein 19	29127258[PMID]
CFAP418	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:27232	ENSG00000156172	614477	8q22.1	cilia and flagella associated protein 418	27008867[PMID]
IFT27	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:18626	ENSG00000100360	615870	22q12.3	intraflagellar transport 27	24488770[PMID]
IFT74	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:21424	ENSG00000096872	608040	9p21.2	intraflagellar transport 74	27486776[PMID]
NPHP1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:7905	ENSG00000144061	607100	2q13	nephrocystin 1	24746959[PMID]
SCAPER	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:13081	ENSG00000140386	611611	15q24.3	S-phase cyclin A associated protein in the ER	30723319[PMID]
SDCCAG8	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:10671	ENSG00000054282	613524	1q43-q44	SHH signaling and ciliogenesis regulator SDCCAG8	20835237[PMID]_20301537[PMID]
ARL6	Disease-causing germline mutation(s) in	Assessed	HGNC:13210	ENSG00000113966	608845	3q11.2	ARF like GTPase 6	20301537[PMID]
BBIP1	Disease-causing germline mutation(s) in	Assessed	HGNC:28093	ENSG00000214413	613605	10q25.2	BBSome interacting protein 1	24026985[PMID]_20301537[PMID]
BBS1	Disease-causing germline mutation(s) in	Assessed	HGNC:966	ENSG00000174483	209901	11q13.2	Bardet-Biedl syndrome 1	20301537[PMID]
BBS10	Disease-causing germline mutation(s) in	Assessed	HGNC:26291	ENSG00000179941	610148	12q21.2	Bardet-Biedl syndrome 10	23219996[PMID]_23403234[PMID]_20301537[PMID]
BBS12	Disease-causing germline mutation(s) in	Assessed	HGNC:26648	ENSG00000181004	610683	4q27	Bardet-Biedl syndrome 12	20301537[PMID]
BBS2	Disease-causing germline mutation(s) in	Assessed	HGNC:967	ENSG00000125124	606151	16q13	Bardet-Biedl syndrome 2	20301537[PMID]
BBS4	Disease-causing germline mutation(s) in	Assessed	HGNC:969	ENSG00000140463	600374	15q24.1	Bardet-Biedl syndrome 4	20301537[PMID]
BBS5	Disease-causing germline mutation(s) in	Assessed	HGNC:970	ENSG00000163093	603650	2q31.1	Bardet-Biedl syndrome 5	20301537[PMID]
BBS7	Disease-causing germline mutation(s) in	Assessed	HGNC:18758	ENSG00000138686	607590	4q27	Bardet-Biedl syndrome 7	20301537[PMID]
BBS9	Disease-causing germline mutation(s) in	Assessed	HGNC:30000	ENSG00000122507	607968	7p14.3	Bardet-Biedl syndrome 9	20301537[PMID]
CEP290	Disease-causing germline mutation(s) in	Assessed	HGNC:29021	ENSG00000198707	610142	12q21.32	centrosomal protein 290	20301537[PMID]
IFT172	Disease-causing germline mutation(s) in	Assessed	HGNC:30391	ENSG00000138002	607386	2p23.3	intraflagellar transport 172	25168386[PMID]
LZTFL1	Disease-causing germline mutation(s) in	Assessed	HGNC:6741	ENSG00000163818	606568	3p21.31	leucine zipper transcription factor like 1	22510444[PMID]_20301537[PMID]
MKKS	Disease-causing germline mutation(s) in	Assessed	HGNC:7108	ENSG00000125863	604896	20p12.2	MKKS centrosomal shuttling protein	20301537[PMID]
MKS1	Disease-causing germline mutation(s) in	Assessed	HGNC:7121	ENSG00000011143	609883	17q22	MKS transition zone complex subunit 1	18327255[PMID]_20301537[PMID]
SCLT1	Disease-causing germline mutation(s) in	Assessed	HGNC:26406	ENSG00000151466	611399	4q28.2	sodium channel and clathrin linker 1	32253632[PMID]
TRIM32	Disease-causing germline mutation(s) in	Assessed	HGNC:16380	ENSG00000119401	602290	9q33.1	tripartite motif containing 32	20301537[PMID]
TTC8	Disease-causing germline mutation(s) in	Assessed	HGNC:20087	ENSG00000165533	608132	14q31.3	tetratricopeptide repeat domain 8	20301537[PMID]
WDPCP	Disease-causing germline mutation(s) in	Assessed	HGNC:28027	ENSG00000143951	613580	2p15	WD repeat containing planar cell polarity effector	20301537[PMID]

Prevalence and incidence

4 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	7.4 / 100 000	Specific population	Value and class	Validated	2591073[PMID]
Prevalence at birth	1-9 / 1 000 000	0.5 / 100 000	Europe	Value and class	Validated	EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]
Point prevalence	1-9 / 1 000 000	0.64 / 100 000	Tunisia	Value and class	Validated	22109794[PMID]
Point prevalence	1-9 / 100 000	1 / 100 000	United States	Value and class	Validated	20949666[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

95 annotations · validated 2023-09-29

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0000556	Retinal dystrophy	Diagnostic criterion
Very frequent (99-80%)
HP:0008915	Childhood-onset truncal obesity	Diagnostic criterion
HP:0000548	Cone/cone-rod dystrophy	Diagnostic criterion
HP:0012758	Neurodevelopmental delay	Diagnostic criterion
HP:0001513	Obesity
Frequent (79-30%)
HP:0000512	Abnormal electroretinogram
HP:0000163	Abnormal oral cavity morphology	Diagnostic criterion
HP:0000119	Abnormality of the genitourinary system	Diagnostic criterion
HP:0004408	Abnormality of the sense of smell	Diagnostic criterion
HP:0000708	Atypical behavior	Diagnostic criterion
HP:0000717	Autism
HP:0000618	Blindness
HP:0001156	Brachydactyly
HP:0012622	Chronic kidney disease	Diagnostic criterion
HP:0100543	Cognitive impairment	Diagnostic criterion
HP:0000551	Color vision defect
HP:0003233	Decreased HDL cholesterol concentration
HP:0000678	Dental crowding
HP:0000716	Depression
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0000218	High palate
HP:0000822	Hypertension
HP:0002155	Hypertriglyceridemia
HP:0000668	Hypodontia
HP:0000135	Hypogonadism	Diagnostic criterion
HP:0008736	Hypoplasia of penis
HP:0008724	Hypoplasia of the ovary
HP:0025691	Impaired fasting glucose
HP:0000662	Nyctalopia
HP:0000639	Nystagmus
HP:0000613	Photophobia
HP:0100259	Postaxial polydactyly	Diagnostic criterion
HP:0007663	Reduced visual acuity
HP:0000736	Short attention span
HP:0004322	Short stature
HP:0001328	Specific learning disability	Diagnostic criterion
Occasional (29-5%)
HP:0001627	Abnormal heart morphology	Diagnostic criterion
HP:0002167	Abnormality of speech or vocalization
HP:0000818	Abnormality of the endocrine system	Diagnostic criterion
HP:0011024	Abnormality of the gastrointestinal tract	Diagnostic criterion
HP:0000739	Anxiety
HP:0011026	Aplasia/Hypoplasia of the vagina
HP:0002099	Asthma
HP:0000483	Astigmatism
HP:0001251	Ataxia
HP:0000518	Cataract
HP:0000028	Cryptorchidism
HP:0008734	Decreased testicular size
HP:0000750	Delayed speech and language development
HP:0005280	Depressed nasal bridge
HP:0000494	Downslanted palpebral fissures
HP:0000712	Emotional lability
HP:0006101	Finger syndactyly
HP:0002230	Generalized hirsutism
HP:0000365	Hearing impairment
HP:0001395	Hepatic fibrosis
HP:0001397	Hepatic steatosis
HP:0000085	Horseshoe kidney
HP:0030010	Hydrometrocolpos
HP:0000126	Hydronephrosis
HP:0000316	Hypertelorism
HP:0000821	Hypothyroidism
HP:0000789	Infertility
HP:0000855	Insulin resistance
HP:0001249	Intellectual disability
HP:0000858	Irregular menstruation
HP:0001382	Joint hypermobility
HP:0000343	Long philtrum
HP:0000400	Macrotia
HP:0010747	Medial flaring of the eyebrow
HP:0000691	Microdontia
HP:0005562	Multiple renal cysts
HP:0008376	Nasal, dysarthic speech
HP:0000100	Nephrotic syndrome
HP:0000011	Neurogenic bladder
HP:0000388	Otitis media
HP:0000147	Polycystic ovaries
HP:0000358	Posteriorly rotated ears
HP:0000426	Prominent nasal bridge
HP:0000278	Retrognathia
HP:0012384	Rhinitis
HP:0001250	Seizure
HP:0000470	Short neck
HP:0003202	Skeletal muscle atrophy
HP:0001257	Spasticity
HP:0000486	Strabismus
HP:0001159	Syndactyly
HP:0001762	Talipes equinovarus
HP:0005978	Type II diabetes mellitus
HP:0000076	Vesicoureteral reflux
Very rare (<4-1%)
HP:0002251	Aganglionic megacolon
HP:0001638	Cardiomyopathy
HP:0002608	Celiac disease
HP:0005769	Fifth finger distal phalanx clinodactyly
HP:0002037	Inflammation of the large intestine

Run the differential on the 5 obligate / very frequent terms

Annotation source: 36741589[PMID]_20301537[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/110
This record as JSON: /data/d/110.json