Bardet-Biedl syndrome
ORPHA:110DiseaseAutosomal recessive, OligogenicAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены26
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BBS1 | Bardet-Biedl syndrome 1 | Disease-causing germline mutation(s) in | gene with protein product | 209901 |
| BBS10 | Bardet-Biedl syndrome 10 | Disease-causing germline mutation(s) in | gene with protein product | 610148 |
| BBS2 | Bardet-Biedl syndrome 2 | Disease-causing germline mutation(s) in | gene with protein product | 606151 |
| BBS4 | Bardet-Biedl syndrome 4 | Disease-causing germline mutation(s) in | gene with protein product | 600374 |
| BBS5 | Bardet-Biedl syndrome 5 | Disease-causing germline mutation(s) in | gene with protein product | 603650 |
| BBS7 | Bardet-Biedl syndrome 7 | Disease-causing germline mutation(s) in | gene with protein product | 607590 |
| BBS9 | Bardet-Biedl syndrome 9 | Disease-causing germline mutation(s) in | gene with protein product | 607968 |
| CEP290 | centrosomal protein 290 | Disease-causing germline mutation(s) in | gene with protein product | 610142 |
| TRIM32 | tripartite motif containing 32 | Disease-causing germline mutation(s) in | gene with protein product | 602290 |
| TTC8 | tetratricopeptide repeat domain 8 | Disease-causing germline mutation(s) in | gene with protein product | 608132 |
| ARL6 | ARF like GTPase 6 | Disease-causing germline mutation(s) in | gene with protein product | 608845 |
| MKKS | MKKS centrosomal shuttling protein | Disease-causing germline mutation(s) in | gene with protein product | 604896 |
| MKS1 | MKS transition zone complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 609883 |
| NPHP1 | nephrocystin 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607100 |
| BBS12 | Bardet-Biedl syndrome 12 | Disease-causing germline mutation(s) in | gene with protein product | 610683 |
| SDCCAG8 | SHH signaling and ciliogenesis regulator SDCCAG8 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613524 |
| WDPCP | WD repeat containing planar cell polarity effector | Disease-causing germline mutation(s) in | gene with protein product | 613580 |
| LZTFL1 | leucine zipper transcription factor like 1 | Disease-causing germline mutation(s) in | gene with protein product | 606568 |
| IFT172 | intraflagellar transport 172 | Disease-causing germline mutation(s) in | gene with protein product | 607386 |
| BBIP1 | BBSome interacting protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 613605 |
| IFT27 | intraflagellar transport 27 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615870 |
| IFT74 | intraflagellar transport 74 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608040 |
| CEP19 | centrosomal protein 19 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 615586 |
| SCAPER | S-phase cyclin A associated protein in the ER | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611611 |
| CFAP418 | cilia and flagella associated protein 418 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614477 |
| SCLT1 | sodium channel and clathrin linker 1 | Disease-causing germline mutation(s) in | gene with protein product | 611399 |
Фенотипы (HPO)95
Облигатный (100%)1
HP:0000556Retinal dystrophy
Очень частый (80–99%)4
HP:0000548Cone/cone-rod dystrophy
HP:0001513Obesity
HP:0008915Childhood-onset truncal obesity
HP:0012758Neurodevelopmental delay
Частый (30–79%)31
HP:0000119Abnormality of the genitourinary system
HP:0000135Hypogonadism
HP:0000163Abnormal oral cavity morphology
HP:0000218High palate
HP:0000512Abnormal electroretinogram
HP:0000551Color vision defect
HP:0000613Photophobia
HP:0000618Blindness
HP:0000639Nystagmus
HP:0000662Nyctalopia
HP:0000668Hypodontia
HP:0000678Dental crowding
HP:0000708Atypical behavior
HP:0000716Depression
HP:0000717Autism
HP:0000736Short attention span
HP:0000822Hypertension
HP:0001156Brachydactyly
HP:0001328Specific learning disability
HP:0002155Hypertriglyceridemia
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003233Decreased HDL cholesterol concentration
HP:0004322Short stature
HP:0004408Abnormality of the sense of smell
HP:0007663Reduced visual acuity
HP:0008724Hypoplasia of the ovary
HP:0008736Hypoplasia of penis
HP:0012622Chronic kidney disease
HP:0025691Impaired fasting glucose
HP:0100259Postaxial polydactyly
HP:0100543Cognitive impairment
Периодический (5–29%)54
HP:0000011Neurogenic bladder
HP:0000028Cryptorchidism
HP:0000076Vesicoureteral reflux
HP:0000085Horseshoe kidney
HP:0000100Nephrotic syndrome
HP:0000126Hydronephrosis
HP:0000147Polycystic ovaries
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000365Hearing impairment
HP:0000388Otitis media
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000470Short neck
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000518Cataract
HP:0000691Microdontia
HP:0000712Emotional lability
HP:0000739Anxiety
HP:0000750Delayed speech and language development
HP:0000789Infertility
HP:0000818Abnormality of the endocrine system
HP:0000821Hypothyroidism
HP:0000855Insulin resistance
HP:0000858Irregular menstruation
HP:0001159Syndactyly
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001395Hepatic fibrosis
HP:0001397Hepatic steatosis
HP:0001627Abnormal heart morphology
HP:0001762Talipes equinovarus
HP:0002099Asthma
HP:0002167Abnormality of speech or vocalization
HP:0002230Generalized hirsutism
HP:0003202Skeletal muscle atrophy
HP:0005280Depressed nasal bridge
HP:0005562Multiple renal cysts
HP:0005978Type II diabetes mellitus
HP:0006101Finger syndactyly
HP:0008376Nasal, dysarthic speech
HP:0008734Decreased testicular size
HP:0010747Medial flaring of the eyebrow
HP:0011024Abnormality of the gastrointestinal tract
HP:0011026Aplasia/Hypoplasia of the vagina
HP:0012384Rhinitis
HP:0030010Hydrometrocolpos
HP:0000358Posteriorly rotated ears
HP:0001382Joint hypermobility
Очень редкий (1–4%)5
HP:0001638Cardiomyopathy
HP:0002037Inflammation of the large intestine
HP:0002251Aganglionic megacolon
HP:0002608Celiac disease
HP:0005769Fifth finger distal phalanx clinodactyly
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 7.4 | Specific population | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.64 | Tunisia | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)