MCID: BRD002
MIFTS: 68

Bardet-Biedl Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Bardet-Biedl Syndrome

About this section
Sources:
23Genetics Home Reference, 65UMLS, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 22GeneTests, 24GTR, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 10 21 45 23 47 12 51 65 36
Biedl-Bardet Syndrome 21 45 22 24
Bbs 45 22 23 51
Laurence-Moon Syndrome 23 65
 
Laurence-Moon-Bardet-Biedl Syndrome 23
Laurence-Moon-Biedl Syndrome 23
Lmbbs 23
Lms 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
bardet-biedl syndrome:
Inheritance: Autosomal recessive,Oligogenic; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:1935
MeSH36 D020788
Orphanet51 110
SNOMED-CT59 5619004
UMLS via Orphanet66 C0752166
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 D020788

Summaries for Bardet-Biedl Syndrome

About this section
NIH Rare Diseases:45 Bardet-biedl syndrome is an inherited condition that affects many parts of the body. people with this condition have progressive visual impairment due to cone-rod dystrophy, extra fingers or toes (polydactyly), truncal obesity, decreased function of the male gonads (hypogonadism), kidney abnormalities, and learning difficulties. at least 14 genes are known to be associated with bardet-biedl syndrome and 5 additional genes may also be associated with this condition. this condition is usually inherited in an autosomal recessive pattern. until recently, laurence-moon syndrome has been associated with bardet-biedl syndrome but newer research determined that they are different conditions. the diagnosis is based on the clinical findings.  there is still no cure and treatment is directed to the problems that are present. last updated: 6/17/2015

MalaCards based summary: Bardet-Biedl Syndrome, also known as biedl-bardet syndrome, is related to bardet-biedl syndrome 1 and bardet-biedl syndrome 3, and has symptoms including multicystic kidney dysplasia, abnormal electroretinogram and postaxial hand polydactyly. An important gene associated with Bardet-Biedl Syndrome is BBS1 (Bardet-Biedl Syndrome 1), and among its related pathways are Cargo trafficking to the periciliary membrane and Organelle biogenesis and maintenance. Affiliated tissues include kidney, testes and ovary, and related mouse phenotypes are taste/olfaction and hearing/vestibular/ear.

Disease Ontology:10 An autosomal recessive disease that results from mutations in multiple bbs genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.

Genetics Home Reference:23 Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.

GeneReviews summary for bbs

Related Diseases for Bardet-Biedl Syndrome

About this section

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 16 Bardet-Biedl Syndrome 15
Bardet-Biedl Syndrome 5 Bardet-Biedl Syndrome 17
Bardet-Biedl Syndrome 3 Bardet-Biedl Syndrome 7
Bardet-Biedl Syndrome 12 Bardet-Biedl Syndrome 9
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 14 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 6
Bardet-Biedl Syndrome 19 C2orf86-Related Bardet-Biedl Syndrome
Arl6-Related Bardet-Biedl Syndrome Bbs1-Related Bardet-Biedl Syndrome
Bbs10-Related Bardet-Biedl Syndrome Bbs12-Related Bardet-Biedl Syndrome
Bbs2-Related Bardet-Biedl Syndrome Bbs4-Related Bardet-Biedl Syndrome
Bbs5-Related Bardet-Biedl Syndrome Bbs7-Related Bardet-Biedl Syndrome
Bbs9-Related Bardet-Biedl Syndrome Cep290-Related Bardet-Biedl Syndrome
Mkks-Related Bardet-Biedl Syndrome Mks1-Related Bardet-Biedl Syndrome
Sdccag8-Related Bardet-Biedl Syndrome Trim32-Related Bardet-Biedl Syndrome
Ttc8-Related Bardet-Biedl Syndrome Wdpcp-Related Bardet-Biedl Syndrome

Diseases related to Bardet-Biedl Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 2110)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome 131.7ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2
2bardet-biedl syndrome 331.7ARL6, BBS1, BBS2, BBS9
3bardet-biedl syndrome 631.6BBS1, BBS2, BBS4, BBS7, MKKS, MKS1
4obesity31.5ARL6, BBS1, BBS10, BBS12, BBS2, BBS4
5bardet-biedl syndrome 1331.5BBS1, BBS4, CEP290, MKS1, TTC8, WDPCP
6bardet-biedl syndrome 1231.4ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2
7bbs12-related bardet-biedl syndrome31.3BBS1, BBS10
8b cell deficiency30.0BBS1, BBS10, BBS12, BBS2, BBS4, BBS7
9central nervous system origin vertigo29.9BBS1, BBS2, BBS4, BBS7, LZTFL1, MKKS
10retinitis10.9
11polydactyly10.8
12bardet-biedl syndrome 210.8
13bardet-biedl syndrome 1110.8
14bardet-biedl syndrome 1010.8
15bardet-biedl syndrome 510.8
16bardet-biedl syndrome 910.8
17bardet-biedl syndrome 810.8
18bardet-biedl syndrome 410.8
19bardet-biedl syndrome 710.7
20bardet-biedl syndrome 1510.7
21bardet-biedl syndrome 1410.7
22bardet-biedl syndrome 1610.7
23ciliopathy10.7
24bardet-biedl syndrome 1710.7
25bardet-biedl syndrome 1810.7
26bardet-biedl syndrome 1910.7
27kidney disease10.6
28retinitis pigmentosa10.6
29situs inversus10.6
30retinal degeneration10.6
31c2orf86-related bardet-biedl syndrome10.6
32lztfl1- related bardet-biedl syndrome10.6
33alstrom syndrome10.5
34anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.5
35adult syndrome10.5
36mckusick-kaufman syndrome10.5
37child syndrome10.5
38congenital nervous system abnormality10.5
39hypothalamic disease10.5
40genetic brain disorders10.5
41kid syndrome10.5
42arl6-related bardet-biedl syndrome10.5
43bbs1-related bardet-biedl syndrome10.5
44bbs10-related bardet-biedl syndrome10.5
45bbs2-related bardet-biedl syndrome10.5
46bbs4-related bardet-biedl syndrome10.5
47bbs5-related bardet-biedl syndrome10.5
48bbs7-related bardet-biedl syndrome10.5
49bbs9-related bardet-biedl syndrome10.5
50cep290-related bardet-biedl syndrome10.5

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome:



Diseases related to bardet-biedl syndrome

Symptoms for Bardet-Biedl Syndrome

About this section

Symptoms:

 51 (show all 26)
  • retinitis pigmentosa/retinal pigmentary changes
  • abnormal erg/electroretinogram/electroretinography
  • postaxial polydactyly (hand)
  • multicystic kidney/renal dysplasia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • generalized obesity
  • nystagmus
  • chronic arterial hypertension
  • abnormal/polycystic ovaries
  • micropenis/small penis/agenesis
  • late puberty/hypogonadism/hypogenitalism
  • short stature/dwarfism/nanism
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flared eyebrows
  • high nasal bridge
  • low set ears/posteriorly rotated ears
  • hearing loss/hypoacusia/deafness
  • short neck
  • syndactyly of fingers/interdigital palm
  • hirsutism/hypertrichosis/increased body hair
  • structural anomalies of the liver and the biliary tract
  • hepatocellular liver disease/hepatic failure
  • nephrotic syndrome
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia

HPO human phenotypes related to Bardet-Biedl Syndrome:

(show all 23)
id Description Frequency HPO Source Accession
1 multicystic kidney dysplasia hallmark (90%) HP:0000003
2 abnormal electroretinogram hallmark (90%) HP:0000512
3 postaxial hand polydactyly hallmark (90%) HP:0001162
4 obesity hallmark (90%) HP:0001513
5 abnormality of retinal pigmentation hallmark (90%) HP:0007703
6 cognitive impairment hallmark (90%) HP:0100543
7 polycystic ovaries typical (50%) HP:0000147
8 nystagmus typical (50%) HP:0000639
9 hypertension typical (50%) HP:0000822
10 short stature typical (50%) HP:0004322
11 hypoplasia of penis typical (50%) HP:0008736
12 cryptorchidism occasional (7.5%) HP:0000028
13 nephrotic syndrome occasional (7.5%) HP:0000100
14 hearing impairment occasional (7.5%) HP:0000365
15 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
16 prominent nasal bridge occasional (7.5%) HP:0000426
17 short neck occasional (7.5%) HP:0000470
18 downslanted palpebral fissures occasional (7.5%) HP:0000494
19 hypertrichosis occasional (7.5%) HP:0000998
20 hepatic failure occasional (7.5%) HP:0001399
21 neurological speech impairment occasional (7.5%) HP:0002167
22 finger syndactyly occasional (7.5%) HP:0006101
23 medial flaring of the eyebrow occasional (7.5%) HP:0010747

Drugs & Therapeutics for Bardet-Biedl Syndrome

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Drugs for Bardet-Biedl Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mentholapproved17482216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
Miracle Foot Repair Cream
Miracle Of Aloe Rub Roll On
Miracle Pain Cream
Moisture Therapy Anti-Itch
MolPort-000-849-729
MolPort-001-793-392
Moore Medical Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Black Cherry Cough Suppressant/anesthetic Drops
Moore Medical Sugar Free Menthol Cough Suppressant/anesthetic Drops
Mr Dudleys Topical Pain Relief
Muscle
Muscle Rub Ultra Strength Pain Relieving
Myo-breathe
Myorx Low Dose Pain Relieving
Myorx Pain Relieving
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Nan San Easy Flex Pain Relieving
Natural Cherry Honey Herb Throat Drops
Natural Herb cough drop
Natural Honey Herb Cough Suppressant Throat Drops
Natural Lemon Mint Herb Throat Drops
Natural Pain Relieving Lavender Breeze Cryogel
Natures Choice Cool Hot Ice
Natures Sunshine Products Everflex Topical Analgesic Pain Relief
Neoisomenthol
Nice Assorted
Nice Cherry
Nice Citrus
Nice Cool Mint
Nice Honey Lemon
Nice Menthol
No Pain More Gain
North Cough Drop
Numotizine
Olbas Lozenges Maximun Strength
Olbas Pastilles
Original Extra Strong All Natural Fishermans Friend Menthol Cough Suppressant
Ortho-nesic
Osmoflex
Oxyrub Pain Relief
Pain Relief Balmpreferred Plus Ph Preferred Plus Pharmacy
Pain Relief Therapy Patch
Pain Reliever
Pain Relieving
Pain Relieving Analgesic
Pain Relieving Patch
Pain Relieving Patch Ultra Strength
Pain Relieving Patch Ultra Strength ULTRA STRENGTH
Panitrol XR
Paraid Extra Strength Menthol Pain Relief Sleeve Knee Large Ankles Elbows
Patch Scherer Labs
Patch Walgreens
Peppermint camphor
Perfect Purity Hotice
Perfect Purity Medicated Foot Powder
Perform
Personal Care Extra Strength Cold Hot
Personal Care Ice Cold
Plaster MandAHerbalPlaster
Po Sum On Medicated
Polar Frost Cold
Power Relief
Preferred Plus Body Powder
Premier Value Medicated Foot Powder
Q Health Pain Relief Spray
Quickflex
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Raw Heat
Raw Ice
Reactice Reactivating Ice Baume
Red Lion Relief
Relief Pain Relieving Cream
Rexall Vanishing Scent Pain Relieving
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Screamin Menthol Toast
Sella Natural
Skin So Soft Bug Guard Plusitch Relief itch relief
Smith Bros Honey Lemon Cough Drops
Smith Bros Menthol Eucalyptus Cough Drops
Smith Bros Sugar-free Black Cherry Cough Drops
Sof Skin Icy Blue
Sofskin Ice Analgesic
Sombra Cool Therapy
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Stopain Cold Pain Relieving
Stopain Cold Professional Strength Pain Relieving
Stopain Extra Strength Pain Relieving
Sub-zero COOL PAIN RELIEVING
Sugar Free Cherry Fishermans Friend Menthol Cough Suppressant
Sugar Free Cherry Herb Throat Drops
Sugar Free Lemon Mint Herb Throat Drops
Sugar Free Mountain Herb Cough Suppressant Throat Drops
Sugar Free Original Swiss Herb Cough Suppressant Throat Drops
Sugar Free Refreshing Mint Fishermans Friend Menthol Cough Suppressant
Sugar Free Swiss Cherry Herb Throat Drops
The Medicine Shoppe Extra Strength Pain Relieving
The Original Natural Herb Cough Drops
Therafreeze
Theraid
Therapeutic Relief Preferred Plus Pharmacy
Theraplus Plus
Throat Coat
Tianhe Guben Yaoshen Tie Gao
Top Care Medicated
Topcare Medicated
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
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Interventional clinical trials:

idNameStatusNCT IDPhase
1Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in AdultsCompletedNCT00213811
2Phenotype and Etiology of Pallister-Hall SyndromeCompletedNCT00001404
3Clinical Registry Investigating Bardet-Biedl SyndromeRecruitingNCT02329210
4Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940
5Clinical and Molecular Investigations Into CiliopathiesRecruitingNCT00068224
6UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998
7Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME)Not yet recruitingNCT02510989
8Genetics and Clinical Characteristics of Bardet-Biedl SyndromeTerminatedNCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome


Cochrane evidence based reviews: Bardet-Biedl Syndrome

Genetic Tests for Bardet-Biedl Syndrome

About this section

Genetic tests related to Bardet-Biedl Syndrome:

id Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome22 24 ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290 (show all 15)

MKKS, MKS1, TRIM32, TTC8, WDPCP

Anatomical Context for Bardet-Biedl Syndrome

About this section

MalaCards organs/tissues related to Bardet-Biedl Syndrome:

33
Kidney, Testes, Ovary, Liver, Pituitary, Eye, Brain

Animal Models for Bardet-Biedl Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.7BBS1, BBS2, BBS4, CEP290, MKKS, TTC8
2MP:000537710.5BBS1, BBS4, MKKS, MKS1, WDPCP
3MP:000537510.5ARL6, BBS1, BBS12, BBS2, BBS4
4MP:000538110.2BBS2, BBS4, BBS7, IFT172, MKS1, SDCCAG8
5MP:000537110.2BBS1, BBS2, BBS7, IFT172, MKKS, MKS1
6MP:000538510.0ARL6, BBS1, BBS4, BBS7, CEP290, IFT172
7MP:000538210.0ARL6, BBS1, BBS4, BBS7, CEP290, IFT172
8MP:00053679.9BBS1, BBS12, BBS2, BBS4, CEP290, IFT172
9MP:00053899.9ARL6, BBS1, BBS2, BBS4, CEP290, MKKS
10MP:00053889.9BBS1, BBS4, CEP290, IFT172, MKKS, MKS1
11MP:00053789.8ARL6, BBS1, BBS12, BBS2, BBS4, CEP290
12MP:00053919.7ARL6, BBS1, BBS12, BBS2, BBS4, BBS7
13MP:00036319.2ARL6, BBS1, BBS12, BBS2, BBS4, BBS7

Publications for Bardet-Biedl Syndrome

About this section

Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 391)
idTitleAuthorsYear
1
Renal dysplasia in Bardet-Biedl syndrome. (26076793)
2015
2
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. (25982971)
2015
3
A rod-sparing retinopathy in bardet-biedl syndrome. (25759667)
2015
4
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. (25168386)
2014
5
Multifocal electroretinogram contributes to differentiation of various clinical pictures within a family with Bardet-Biedl syndrome. (24993321)
2014
6
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. (24608809)
2014
7
Report of four cases of Bardet-Biedl syndrome. (25055367)
2014
8
Choroidal neovascularization in Bardet-Biedl syndrome. (23565731)
2013
9
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, AlstrAPm syndrome and Bardet-Biedl syndrome. (23981649)
2013
10
Hyperphagia among patients with Bardet-Biedl syndrome. (23776152)
2013
11
Bardet-Biedl syndrome, the ciliopathy model and the importance of renal involvement. (24089167)
2013
12
Subretinal gene therapy of mice with Bardet-Biedl syndrome type 1. (23900607)
2013
13
Bardet-Biedl syndrome with seizures -a rare association. (24772752)
2013
14
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. (23143442)
2012
15
Prevalence of Bardet-Biedl syndrome in Tunisia. (22109794)
2011
16
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. (22022287)
2011
17
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. (22139371)
2011
18
Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings. (21980853)
2011
19
Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome. (21204204)
2011
20
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia. (20603001)
2010
21
Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes. (20120035)
2010
22
Laurence Moon Bardet Biedl Syndrome. (19377420)
2009
23
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. (19093007)
2008
24
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. (18443298)
2008
25
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. (17980398)
2008
26
Retinal dysfunction in carriers of bardet-biedl syndrome. (17896315)
2007
27
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis. (17379567)
2007
28
Atypical association of Duane retraction syndrome and Bardet Biedl syndrome. (17322606)
2007
29
Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians. (17003356)
2006
30
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). (16606853)
2006
31
Comparative genomic analysis identifies an ADP-ribosylation factor- like gene as the cause of Bardet-Biedl Syndrome (BBS3). (15258860)
2004
32
Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome. (15340663)
2004
33
Bilateral spontaneous quadriceps tendon ruptures in a patient with Bardet-Biedl syndrome. (15553939)
2004
34
Orthopaedic manifestations of Bardet-Biedl syndrome. (14676542)
2004
35
Further support for digenic inheritance in Bardet-Biedl syndrome. (12920096)
2003
36
Acute poststreptococcal glomerulonephritis in a child with Bardet-Biedl syndrome. (11793138)
2002
37
Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. (11196121)
1999
38
Otolaryngologic features of Laurence-Moon-Bardet-Biedl syndrome. (10187963)
1999
39
Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. (10577921)
1999
40
Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity? (10211669)
1999
41
Laurence-Moon-Bardet-Biedl syndrome. Clinical, electrophysiological and genetic aspects. (9645236)
1998
42
The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa. (9134546)
1997
43
Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome. (8667262)
1996
44
The cause of death in Laurence-Moon-Bardet-Biedl syndrome. (8741118)
1996
45
Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous. (8075632)
1994
46
Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. (2333905)
1990
47
High incidence of Bardet Biedl syndrome among the Bedouin. (2591073)
1989
48
Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community. (6733577)
1984
49
Hepatic involvement in the Bardet-Biedl syndrome. (7158637)
1982
50
Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood. (576082)
1977

Variations for Bardet-Biedl Syndrome

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Clinvar genetic disease variations for Bardet-Biedl Syndrome:

5 (show all 114)
id Gene Variation Type Significance SNP ID Assembly Location
1BBS12NM_001178007.1(BBS12): c.1063C> T (p.Arg355Ter)single nucleotide variantPathogenicrs121918327GRCh37Chr 4, 123664110: 123664110
2BBS12NM_001178007.1(BBS12): c.335_337delTAG (p.Val113del)deletionPathogenicrs587777801GRCh37Chr 4, 123663382: 123663384
3BBS12NM_001178007.1(BBS12): c.1483_1484delGA (p.Glu495Argfs)deletionPathogenicrs587777802GRCh38Chr 4, 122743375: 122743376
4BBS12NM_001178007.1(BBS12): c.865G> C (p.Ala289Pro)single nucleotide variantPathogenicrs121918328GRCh37Chr 4, 123663912: 123663912
5BBS12NM_001178007.1(BBS12): c.1115_1116delTT (p.Phe372Terfs)deletionPathogenicrs587777803GRCh37Chr 4, 123664162: 123664163
6NM_024649.4(BBS1): c.1169T> G (p.Met390Arg)single nucleotide variantPathogenicrs113624356GRCh37Chr 11, 66293652: 66293652
7NM_024649.4(BBS1): c.1645G> T (p.Glu549Ter)single nucleotide variantLikely pathogenic, Pathogenicrs121917777GRCh37Chr 11, 66299163: 66299163
8BBS1NM_024649.4(BBS1): c.432+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587777829GRCh38Chr 11, 66514679: 66514679
9BBS1NM_024649.4(BBS1): c.700G> A (p.Glu234Lys)single nucleotide variantPathogenicrs35520756GRCh37Chr 11, 66287196: 66287196
10BBIP1NM_001195306.1(BBIP1): c.173T> G (p.Leu58Ter)single nucleotide variantPathogenicrs515726134GRCh38Chr 10, 110900466: 110900466
11LZTFL1NM_020347.3(LZTFL1): c.260T> C (p.Leu87Pro)single nucleotide variantPathogenicrs515726135GRCh37Chr 3, 45877145: 45877145
12LZTFL1NM_020347.3(LZTFL1): c.778G> T (p.Glu260Ter)single nucleotide variantPathogenicrs515726136GRCh38Chr 3, 45827459: 45827459
13BBS10NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs)duplicationPathogenicrs549625604GRCh38Chr 12, 76347714: 76347714
14BBS10NM_024685.3(BBS10): c.101G> C (p.Arg34Pro)single nucleotide variantPathogenicrs137852836GRCh37Chr 12, 76742038: 76742038
15BBS10NM_024685.3(BBS10): c.931T> G (p.Ser311Ala)single nucleotide variantPathogenicrs137852837GRCh37Chr 12, 76740834: 76740834
16BBS10NM_024685.3(BBS10): c.32T> G (p.Val11Gly)single nucleotide variantPathogenicrs137852838GRCh37Chr 12, 76742107: 76742107
17CEP290NM_025114.3(CEP290): c.5704G> T (p.Glu1902Ter)single nucleotide variantPathogenicrs267606719GRCh37Chr 12, 88471004: 88471004
18MKS1NM_001165927.1(MKS1): c.1446T> G (p.Cys482Trp)single nucleotide variantPathogenicrs137853105GRCh37Chr 17, 56283840: 56283840
19MKS1NM_017777.3(MKS1): c.1112_1114delTCT (p.Phe371del)deletionPathogenicrs587777804GRCh38Chr 17, 58208156: 58208158
20IFT27NM_001177701.2(IFT27): c.299G> A (p.Cys100Tyr)single nucleotide variantPathogenicrs587777546GRCh37Chr 22, 37160016: 37160016
21SDCCAG8NM_006642.3(SDCCAG8): c.1627_1630delGATA (p.Asp543Alafs)deletionPathogenicrs587777846GRCh38Chr 1, 243415712: 243415715
22SDCCAG8NM_006642.3(SDCCAG8): c.1444delA (p.Thr482Leufs)deletionPathogenicrs587777847GRCh38Chr 1, 243344302: 243344302
23BBS7NM_176824.2(BBS7): c.1967_1968delTAinsC (p.Leu656Profs)indelPathogenicrs672601379GRCh38Chr 4, 121828192: 121828193
24BBS10NM_024685.3(BBS10): c.1091delA (p.Asn364Thrfs)deletionLikely pathogenic, Pathogenicrs727503818GRCh37Chr 12, 76740674: 76740674
25BBS10NM_024685.3(BBS10): c.1090delA (p.Asn364Thrfs)deletionPathogenicrs727503819GRCh37Chr 12, 76740675: 76740675
26MKS1NM_017777.3(MKS1): c.1382A> G (p.Tyr461Cys)single nucleotide variantPathogenicrs730882120GRCh38Chr 17, 58207110: 58207110
27MKS1NM_017777.3(MKS1): c.1601G> A (p.Arg534Gln)single nucleotide variantPathogenicrs199910690GRCh38Chr 17, 58206158: 58206158
28BBS1NM_024649.4(BBS1): c.436C> T (p.Arg146Ter)single nucleotide variantLikely pathogenicrs786204444GRCh38Chr 11, 66515543: 66515543
29BBS10NM_024685.3(BBS10): c.1184dupA (p.His395Glnfs)duplicationLikely pathogenicrs786204573GRCh38Chr 12, 76346801: 76346801
30BBS10NM_024685.3(BBS10): c.1241T> C (p.Leu414Ser)single nucleotide variantLikely pathogenicrs786204575GRCh38Chr 12, 76346744: 76346744
31NM_024649.4(BBS1): c.1285C> T (p.Arg429Ter)single nucleotide variantLikely pathogenicrs768443448GRCh37Chr 11, 66294224: 66294224
32BBS10NM_024685.3(BBS10): c.1599_1602delAACT (p.Thr534Ilefs)deletionLikely pathogenicrs770556842GRCh38Chr 12, 76346383: 76346386
33BBS10NM_024685.3(BBS10): c.728_731delAAGA (p.Lys243Ilefs)deletionLikely pathogenicrs786204671GRCh38Chr 12, 76347254: 76347257
34NM_024649.4(BBS1): c.1131_1135delCTTTG (p.Cys377Trpfs)deletionLikely pathogenicrs786204701GRCh38Chr 11, 66526143: 66526147
35BBS10NM_024685.3(BBS10): c.1448_1452delCTCAA (p.Thr483Asnfs)deletionLikely pathogenicrs786204705GRCh38Chr 12, 76346533: 76346537
36NM_024649.4(BBS1): c.887delT (p.Ile296Thrfs)deletionPathogenicrs794727006GRCh37Chr 11, 66290983: 66290983
37BBS2NM_031885.3(BBS2): c.1099dupC (p.Leu367Profs)duplicationPathogenicrs797044632GRCh38Chr 16, 56501479: 56501479
38BBS12NM_001178007.1(BBS12): c.1704G> A (p.Trp568Ter)single nucleotide variantPathogenicrs747904021GRCh37Chr 4, 123664751: 123664751
39LZTFL1NM_001276378.1(LZTFL1): c.271C> T (p.Arg91Ter)single nucleotide variantPathogenicrs769327864GRCh37Chr 3, 45877083: 45877083
40ARL6NM_032146.4(ARL6): c.364C> T (p.Arg122Ter)single nucleotide variantPathogenicrs104893678GRCh37Chr 3, 97506848: 97506848
41ARL6NM_032146.4(ARL6): c.506G> C (p.Gly169Ala)single nucleotide variantPathogenic, risk factorrs104893679GRCh37Chr 3, 97510641: 97510641
42ARL6NM_032146.4(ARL6): c.92C> T (p.Thr31Met)single nucleotide variantPathogenicrs104893680GRCh37Chr 3, 97487043: 97487043
43ARL6NM_032146.4(ARL6): c.509T> G (p.Leu170Trp)single nucleotide variantPathogenicrs104893681GRCh37Chr 3, 97510644: 97510644
44ARL6NM_032146.4(ARL6): c.92C> G (p.Thr31Arg)single nucleotide variantPathogenicrs104893680GRCh37Chr 3, 97487043: 97487043
45BBS2NM_031885.3(BBS2): c.661delC (p.Leu221Phefs)deletionPathogenicrs770258677GRCh38Chr 16, 56506176: 56506176
46CEP290NM_025114.3(CEP290): c.4243G> T (p.Glu1415Ter)single nucleotide variantLikely pathogenicrs797044604GRCh38Chr 12, 88086450: 88086450
47BBS10NM_024685.3(BBS10): c.687delT (p.Val230Phefs)deletionPathogenicrs761101213GRCh37Chr 12, 76741078: 76741078
48BBS10NM_024685.3(BBS10): c.531C> A (p.Tyr177Ter)single nucleotide variantPathogenicGRCh38Chr 12, 76347454: 76347454
49BBS7NM_176824.2(BBS7): c.1986_1988delGCAinsT (p.Lys662Asnfs)indelPathogenicGRCh37Chr 4, 122749327: 122749329
50BBS7NM_176824.2(BBS7): c.389_390delAC (p.Asn130Thrfs)deletionPathogenicGRCh37Chr 4, 122780285: 122780286
51BBS9NM_198428.2(BBS9): c.(?_-1)_328+?deldeletionPathogenicGRCh37Chr 7, 33185864: 33195314
52BBS9NM_198428.2(BBS9): c.1370T> A (p.Leu457Ter)single nucleotide variantPathogenicrs762511626GRCh38Chr 7, 33349108: 33349108
53BBS9NM_198428.2(BBS9): c.1423G> T (p.Glu475Ter)single nucleotide variantPathogenicGRCh38Chr 7, 33349161: 33349161
54MKKSNM_170784.2(MKKS): c.431_441delTTAGTAGTACT (p.Phe144Serfs)deletionPathogenicrs113994195GRCh37Chr 20, 10393722: 10393732
55MKKSNM_170784.2(MKKS): c.876_877insCCTG (p.Cys293Profs)insertionPathogenicrs113994196GRCh37Chr 20, 10393286: 10393287
56NM_024649.4(BBS1): c.1340-2A> Gsingle nucleotide variantPathogenicrs113994180GRCh37Chr 11, 66297288: 66297288
57NM_024649.4(BBS1): c.831-3C> Gsingle nucleotide variantPathogenicrs113994179GRCh37Chr 11, 66290924: 66290924
58BBS1NM_024649.4(BBS1): c.-3_37del40deletionPathogenicrs113994178GRCh37Chr 11, 66278128: 66278167
59BBS4NM_033028.4(BBS4): c.220+1G> Csingle nucleotide variantPathogenicrs113994190GRCh37Chr 15, 73004649: 73004649
60BBS4NM_033028.4(BBS4): c.406-2A> Csingle nucleotide variantPathogenicrs113994191GRCh37Chr 15, 73015133: 73015133
61TTC8NM_144596.3(TTC8): c.589_594delGAGTAT (p.Glu197_Tyr198del)deletionPathogenicrs587777806GRCh38Chr 14, 88843815: 88843820
62TTC8NM_144596.3(TTC8): c.1049+2_1049+4delTGCdeletionPathogenicrs587777807GRCh38Chr 14, 88870200: 88870202
63TTC8NM_144596.3(TTC8): c.489G> A (p.Thr163Thr=)single nucleotide variantPathogenicrs119103286GRCh37Chr 14, 89307540: 89307540
64TTC8NM_144596.3(TTC8): c.624+1G> Asingle nucleotide variantPathogenicrs587777808GRCh38Chr 14, 88843851: 88843851
65BBS9NM_198428.2(BBS9): c.1789+1G> Asingle nucleotide variantPathogenicrs201938124GRCh37Chr 7, 33407475: 33407475
66BBS9NM_198428.2(BBS9): c.1792C> T (p.Arg598Ter)single nucleotide variantPathogenicrs137852856GRCh37Chr 7, 33423280: 33423280
67BBS9NM_198428.2(BBS9): c.2045dupC (p.Arg683Lysfs)duplicationPathogenicrs587777810GRCh38Chr 7, 33388074: 33388074
68BBS9NM_198428.2(BBS9): c.421G> A (p.Gly141Arg)single nucleotide variantPathogenicrs137852857GRCh37Chr 7, 33217182: 33217182
69BBS9NM_198428.2(BBS9): c.1063C> T (p.Gln355Ter)single nucleotide variantPathogenicrs137852858GRCh37Chr 7, 33376099: 33376099
70BBS9NM_198428.2(BBS9): c.442+1G> Csingle nucleotide variantPathogenicrs587777811GRCh38Chr 7, 33177592: 33177592
71BBS9NM_198428.2(BBS9): c.1877_1880delAACA (p.Lys626Argfs)deletionPathogenicrs606231137GRCh38Chr 7, 33383753: 33383756
72BBS7NM_176824.2(BBS7): c.968A> G (p.His323Arg)single nucleotide variantPathogenicrs119466001GRCh37Chr 4, 122768628: 122768628
73BBS7NM_176824.2(BBS7): c.632C> T (p.Thr211Ile)single nucleotide variantPathogenicrs119466002GRCh37Chr 4, 122775945: 122775945
74BBS7NM_176824.2(BBS7): c.709_712delAAGA (p.Lys237Glufs)deletionPathogenicrs587777812GRCh38Chr 4, 121854710: 121854713
75BBS2NM_031885.3(BBS2): c.472-2A> Gsingle nucleotide variantPathogenicrs137854887GRCh37Chr 16, 56544835: 56544835
76BBS7NM_176824.2(BBS7): c.1592_1597delTTCCAG (p.Val531_Pro532del)deletionPathogenicrs587777836GRCh37Chr 4, 122754465: 122754470
77BBS10NM_024685.3(BBS10): c.1044_1045delTT (p.Pro350Ilefs)deletionPathogenicrs587777837GRCh38Chr 12, 76346940: 76346941
78BBS10NM_024685.3(BBS10): c.273C> G (p.Cys91Trp)single nucleotide variantPathogenicrs148374859GRCh37Chr 12, 76741492: 76741492
79BBS9NM_014451.3(BBS9)deletionPathogenicGRCh38Chr 7, 33255561: 33263782
80BBS10NM_024685.3(BBS10): c.1736A> G (p.Lys579Arg)single nucleotide variantLikely pathogenicrs141521925GRCh37Chr 12, 76740029: 76740029
81BBS1NM_024649.4(BBS1): c.670G> A (p.Glu224Lys)single nucleotide variantLikely pathogenicrs193922709GRCh37Chr 11, 66287166: 66287166
82BBS2NM_031885.3(BBS2): c.1015C> T (p.Arg339Ter)single nucleotide variantLikely pathogenicrs193922710GRCh37Chr 16, 56536294: 56536294
83BBS2NM_031885.3(BBS2): c.1770delT (p.Phe590Leufs)deletionLikely pathogenic, Pathogenicrs193922711GRCh37Chr 16, 56531682: 56531682
84LZTFL1NM_020347.3(LZTFL1): c.402_406delAAAGC (p.Pro136Thrfs)deletionPathogenicrs431825171GRCh37Chr 3, 45874592: 45874596
85WDPCPNM_015910.5(WDPCP): c.76-1G> Tsingle nucleotide variantPathogenicrs397704728GRCh37Chr 2, 63720075: 63720075
86BBS2NM_031885.3(BBS2): c.940delA (p.Ile314Serfs)deletionPathogenicrs587777824GRCh38Chr 16, 56502673: 56502673
87BBS2NM_031885.3(BBS2): c.224T> G (p.Val75Gly)single nucleotide variantPathogenicrs121908174GRCh37Chr 16, 56548486: 56548486
88BBS2NM_031885.3(BBS2): c.175C> T (p.Gln59Ter)single nucleotide variantPathogenicrs121908176GRCh37Chr 16, 56548535: 56548535
89BBS2NM_031885.3(BBS2): c.823C> T (p.Arg275Ter)single nucleotide variantPathogenicrs121908177GRCh37Chr 16, 56536702: 56536702
90BBS2BBS2, CYS210FS, TER246undetermined variantPathogenic
91BBS2NM_031885.3(BBS2): c.118-1G> Csingle nucleotide variantPathogenicrs587777825GRCh38Chr 16, 56514681: 56514681
92BBS2NM_031885.3(BBS2): c.416G> T (p.Gly139Val)single nucleotide variantPathogenicrs121908181GRCh37Chr 16, 56545126: 56545126
93MKKSNM_170784.2(MKKS): c.155G> A (p.Gly52Asp)single nucleotide variantPathogenicrs28937875GRCh37Chr 20, 10394008: 10394008
94MKKSNM_170784.2(MKKS): c.792T> A (p.Tyr264Ter)single nucleotide variantPathogenicrs74315397GRCh37Chr 20, 10393371: 10393371
95MKKSNM_170784.2(MKKS): c.281delT (p.Phe94Serfs)deletionPathogenicrs587777827GRCh38Chr 20, 10413234: 10413234
96MKKSMKKS, 2-BP DEL, 429CT AND 2-BP DEL, 433AGdeletionPathogenic
97MKKSNM_170784.2(MKKS): c.169A> G (p.Thr57Ala)single nucleotide variantPathogenicrs74315399GRCh37Chr 20, 10393994: 10393994
98SDCCAG8NM_006642.3(SDCCAG8): c.740+356C> Tsingle nucleotide variantPathogenicrs397515337GRCh37Chr 1, 243468435: 243468435
99SDCCAG8NM_006642.3(SDCCAG8): c.679A> T (p.Lys227Ter)single nucleotide variantPathogenicrs267607031GRCh37Chr 1, 243468018: 243468018
100BBS5NM_152384.2(BBS5): c.522+3A> Gsingle nucleotide variantPathogenicrs587777828GRCh38Chr 2, 169493012: 169493012
101BBS5BBS5, LEU142TERundetermined variantPathogenic
102BBS5BBS5, 8-BP DEL/7-BP INS, NT263indelPathogenic
103BBS5BBS5, TRP59TERundetermined variantPathogenic
104BBS5NM_152384.2(BBS5): c.214G> A (p.Gly72Ser)single nucleotide variantPathogenicrs121908581GRCh37Chr 2, 170344321: 170344321
105BBS5NM_152384.2(BBS5): c.547A> G (p.Thr183Ala)single nucleotide variantPathogenicrs121908582GRCh37Chr 2, 170350275: 170350275
106BBS10NM_024685.3(BBS10): c.1202G> A (p.Gly401Glu)single nucleotide variantPathogenicrs199474722GRCh37Chr 12, 76740563: 76740563
107ARL6NM_177976.2(ARL6): c.272T> C (p.Ile91Thr)single nucleotide variantPathogenicrs137854907GRCh37Chr 3, 97503816: 97503816
108BBS12NM_001178007.1(BBS12): c.323C> G (p.Pro108Arg)single nucleotide variantPathogenicrs151344630GRCh37Chr 4, 123663370: 123663370
109BBS5NM_152384.2(BBS5): c.413G> A (p.Arg138His)single nucleotide variantPathogenicrs179363897GRCh37Chr 2, 170349410: 170349410
110NM_012210.3(TRIM32): c.388C> T (p.Pro130Ser)single nucleotide variantPathogenicrs111033571GRCh37Chr 9, 119460409: 119460409
111BBS4NM_033028.4(BBS4): c.884G> C (p.Arg295Pro)single nucleotide variantPathogenicrs121434632GRCh37Chr 15, 73023915: 73023915
112BBS4NM_033028.4(BBS4): c.77-220delAdeletionPathogenicrs113994189GRCh37Chr 15, 73001821: 73001821
113BBS4NM_033028.4(BBS4): c.157-2A> Gsingle nucleotide variantPathogenicrs113994192GRCh37Chr 15, 73004583: 73004583
114BBS4NM_033028.4(BBS4): c.1091C> A (p.Ala364Glu)single nucleotide variantPathogenicrs28938468GRCh37Chr 15, 73027508: 73027508

Expression for genes affiliated with Bardet-Biedl Syndrome

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Search GEO for disease gene expression data for Bardet-Biedl Syndrome.

Pathways for genes affiliated with Bardet-Biedl Syndrome

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Pathways related to Bardet-Biedl Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2
2
Show member pathways
9.1ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2

GO Terms for genes affiliated with Bardet-Biedl Syndrome

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Cellular components related to Bardet-Biedl Syndrome according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1sperm midpieceGO:009722511.0IFT172, IFT27
2intraciliary transport particle BGO:003099210.9IFT172, IFT27
3pericentriolar materialGO:000024210.9BBS4, BBS9
4sperm principal pieceGO:009722810.9IFT172, IFT27
5TCTN-B9D complexGO:003603810.9CEP290, MKS1
6primary ciliumGO:007237210.8ARL6, IFT172, IFT27
7photoreceptor outer segmentGO:000175010.8BBS4, BBS7, CEP290
8motile ciliumGO:003151410.7BBS2, BBS4, IFT27, MKKS
9ciliary transition zoneGO:003586910.7BBS4, BBS9, CEP290, MKS1
10centrioleGO:000581410.7BBS4, MKS1, SDCCAG8
11centriolar satelliteGO:003445110.7BBS4, BBS9, CEP290, SDCCAG8
12photoreceptor connecting ciliumGO:003239110.7BBS4, CEP290, TTC8
13ciliary membraneGO:006017010.5ARL6, BBS1, BBS2, BBS4, BBS5, BBS7
14BBSomeGO:003446410.4ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
15axonemeGO:000593010.4ARL6, BBS1, BBS5, BBS7, IFT172, WDPCP
16ciliary basal bodyGO:003606410.2BBS1, BBS2, BBS4, BBS5, BBS7, IFT172
17centrosomeGO:000581310.0BBS1, BBS4, BBS7, CEP290, IFT27, MKKS
18ciliumGO:00059299.8ARL6, BBIP1, BBS10, BBS12, BBS4, BBS9
19cytosolGO:00058299.3ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5

Biological processes related to Bardet-Biedl Syndrome according to GeneCards Suite gene sharing:

(show all 43)
idNameGO IDScoreTop Affiliating Genes
1protein localization to ciliary membraneGO:190344111.0ARL6, BBS2
2pigment granule aggregation in cell centerGO:005187711.0BBS7, MKKS
3artery smooth muscle contractionGO:001482411.0BBS2, MKKS
4Golgi to plasma membrane protein transportGO:004300111.0BBS1, BBS2
5negative regulation of actin filament polymerizationGO:003083710.9BBS4, MKKS
6sensory processingGO:005089310.9BBS4, TTC8
7intraciliary transportGO:004207310.9BBS12, IFT27
8vasodilationGO:004231110.9BBS2, MKKS
9striatum developmentGO:002175610.8BBS2, BBS4, MKKS
10leptin-mediated signaling pathwayGO:003321010.8BBS2, BBS4, MKKS
11negative regulation of appetite by leptin-mediated signaling pathwayGO:003810810.8BBS2, BBS4, MKKS
12response to leptinGO:004432110.8BBS2, BBS4, MKKS
13negative regulation of GTPase activityGO:003426010.8BBS4, MKKS, TTC8
14regulation of stress fiber assemblyGO:005149210.8BBS4, MKKS, TTC8
15face developmentGO:006032410.8BBS4, MKKS
16chaperone-mediated protein complex assemblyGO:005113110.8BBS10, BBS12, MKKS
17regulation of smoothened signaling pathwayGO:000858910.8ARL6, IFT172, MKS1
18brain morphogenesisGO:004885410.8BBS2, BBS4, MKKS
19regulation of cilium beat frequency involved in ciliary motilityGO:006029610.8BBS2, BBS4, MKKS
20protein localization to ciliumGO:006151210.7ARL6, BBS1, BBS4, BBS9
21intracellular transportGO:004690710.7BBS4, BBS5, BBS7, MKKS
22protein localization to organelleGO:003336510.7BBS2, BBS4
23smoothened signaling pathwayGO:000722410.7BBS7, IFT172, IFT27, WDPCP
24positive regulation of multicellular organism growthGO:004001810.7BBS2, BBS4, MKKS
25negative regulation of gene expressionGO:001062910.6BBS2, BBS4, MKKS
26heart loopingGO:000194710.6BBS4, BBS5, BBS7, IFT172, MKKS
27melanosome transportGO:003240210.6ARL6, BBS2, BBS4, BBS5, BBS7, MKKS
28hippocampus developmentGO:002176610.6BBS2, BBS4, MKKS
29response to stimulusGO:005089610.6BBS1, BBS10, BBS5, BBS9
30neural tube closureGO:000184310.6BBS4, IFT172, MKS1
31retina homeostasisGO:000189510.5BBS1, BBS10, BBS4
32fat cell differentiationGO:004544410.4ARL6, BBS2, BBS4, BBS7, BBS9, MKKS
33protein localizationGO:000810410.4BBS2, BBS4, BBS7
34photoreceptor cell maintenanceGO:004549410.4BBS1, BBS10, BBS12, BBS2, BBS4, CEP290
35nonmotile primary cilium assemblyGO:003505810.4BBS1, BBS10, BBS2, BBS4, BBS7, CEP290
36cilium morphogenesisGO:006027110.3BBS2, BBS4, BBS7, CEP290, IFT172, MKKS
37palate developmentGO:006002110.2BBS7, IFT172, WDPCP
38cerebral cortex developmentGO:002198710.2BBS2, BBS4, MKKS
39visual perceptionGO:00076019.9ARL6, BBS1, BBS10, BBS2, BBS4, BBS5
40protein transportGO:00150319.8BBIP1, BBS4, BBS5, BBS7, BBS9, CEP290
41cilium assemblyGO:00423849.8ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5
42determination of left/right symmetryGO:00073689.8ARL6, BBS7, IFT172, MKKS, MKS1
43organelle organizationGO:00069969.6ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5

Molecular functions related to Bardet-Biedl Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II repressing transcription factor bindingGO:000110310.6BBS1, BBS10, BBS2, BBS4, BBS5, BBS7
2protein bindingGO:00055158.9ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2

Sources for Bardet-Biedl Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet