MCID: BRD002
MIFTS: 52

Bardet-Biedl Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Bardet-Biedl Syndrome

About this section
Sources:
23Genetics Home Reference, 65UMLS, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 24GTR, 27ICD10, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Bardet-Biedl Syndrome:

Name: Bardet-Biedl Syndrome 10 21 45 22 23 47 12 51 36 65
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

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Disease Ontology10 DOID:1935
ICD1027 Q87.89
MeSH36 D020788
Orphanet51 110
SNOMED-CT59 5619004
UMLS via Orphanet66 C0752166
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 D020788
UMLS65 C0752166

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 3 and bardet-biedl syndrome 6, and has symptoms including multicystic kidney dysplasia, abnormal electroretinogram and postaxial hand polydactyly. An important gene associated with Bardet-Biedl Syndrome is BBS10 (Bardet-Biedl Syndrome 10), and among its related pathways are Cargo trafficking to the periciliary membrane and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and breast, and related mouse phenotypes are taste/olfaction and adipose tissue.

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.

Wikipedia:68 Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects and... more...

GeneReviews summary for NBK1363

Related Diseases for Bardet-Biedl Syndrome

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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 Bbip1-Related Bardet-Biedl Syndrome
C2orf86-Related Bardet-Biedl Syndrome Ift27-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 332)
idRelated DiseaseScoreTop Affiliating Genes
1bardet-biedl syndrome 335.0ARL6, BBS1, BBS2, BBS9
2bardet-biedl syndrome 634.9BBS1, BBS2, BBS4, BBS7, MKKS, MKS1
3bardet-biedl syndrome 1334.8BBS1, BBS4, CEP290, MKS1, WDPCP
4bbs12-related bardet-biedl syndrome34.6BBS1, BBS10
5obesity31.9BBS1, BBS10, BBS2, BBS4, BBS5, BBS7
6bardet-biedl syndrome 112.9
7bardet-biedl syndrome 212.8
8bardet-biedl syndrome 512.8
9bardet-biedl syndrome 712.8
10bardet-biedl syndrome 1212.8
11bardet-biedl syndrome 912.8
12bardet-biedl syndrome 1112.8
13bardet-biedl syndrome 1012.8
14bardet-biedl syndrome 812.8
15bardet-biedl syndrome 412.8
16bardet-biedl syndrome 1612.8
17bardet-biedl syndrome 1512.8
18bardet-biedl syndrome 1712.8
19bardet-biedl syndrome 1812.8
20bardet-biedl syndrome 1412.8
21bardet-biedl syndrome 1912.8
22bbip1-related bardet-biedl syndrome12.6
23c2orf86-related bardet-biedl syndrome12.6
24ift27-related bardet-biedl syndrome12.6
25lztfl1- related bardet-biedl syndrome12.6
26arl6-related bardet-biedl syndrome12.6
27bbs1-related bardet-biedl syndrome12.6
28bbs10-related bardet-biedl syndrome12.6
29bbs2-related bardet-biedl syndrome12.6
30bbs4-related bardet-biedl syndrome12.6
31bbs5-related bardet-biedl syndrome12.6
32bbs7-related bardet-biedl syndrome12.6
33bbs9-related bardet-biedl syndrome12.6
34cep290-related bardet-biedl syndrome12.6
35mkks-related bardet-biedl syndrome12.6
36mks1-related bardet-biedl syndrome12.6
37trim32-related bardet-biedl syndrome12.6
38ttc8-related bardet-biedl syndrome12.6
39wdpcp-related bardet-biedl syndrome12.6
40sdccag8-related bardet-biedl syndrome12.5
41limb-mammary syndrome11.5
42lateral meningocele syndrome11.5
43lenz-majewski hyperostotic dwarfism11.3
44lactose intolerance11.3
45huntington disease11.0
46alstrom syndrome10.8
47laurence-moon syndrome10.8
48breast cancer10.8
49hepatitis10.8
50lymphoma10.7

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
Mentholapproved19992216-51-516666
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
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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

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Genetic tests related to Bardet-Biedl Syndrome:

id Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome22 BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10 (show all 17)

TRIM32, BBS12, MKS1, CEP290, WDPCP, BBIP1, IFT27

Anatomical Context for Bardet-Biedl Syndrome

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MalaCards organs/tissues related to Bardet-Biedl Syndrome:

33
Kidney, Liver, Breast, Endothelial, Testes, Ovary, Brain

Animal Models for Bardet-Biedl Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bardet-Biedl Syndrome:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539410.4BBS1, BBS2, BBS4, BBS7, CEP290, MKKS
2MP:000537510.3ARL6, BBS1, BBS12, BBS2, BBS4, BBS5
3MP:000537710.1BBS1, BBS4, MKKS, MKS1, WDPCP
4MP:000538810.1BBS1, BBS4, CEP290, IFT172, IFT27, MKKS
5MP:000538110.1BBS2, BBS4, BBS7, IFT172, IFT27, MKS1
6MP:000538910.1ARL6, BBIP1, BBS1, BBS2, BBS4, BBS7
7MP:000537110.1BBS1, BBS2, BBS5, BBS7, IFT172, IFT27
8MP:00053869.9ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
9MP:00053679.9BBS1, BBS12, BBS2, BBS4, BBS7, CEP290
10MP:00053849.6ARL6, BBS1, BBS2, BBS4, BBS7, CEP290
11MP:00053829.6ARL6, BBS1, BBS4, BBS7, CEP290, IFT172
12MP:00053769.6BBS1, BBS10, BBS12, BBS2, BBS4, BBS5
13MP:00053919.5ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
14MP:00036319.4ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4
15MP:00107689.4BBIP1, BBS1, BBS10, BBS4, BBS7, CEP290
16MP:00053859.3ARL6, BBS1, BBS4, BBS5, BBS7, CEP290
17MP:00053789.0ARL6, BBIP1, BBS1, BBS12, BBS2, BBS4

Publications for Bardet-Biedl Syndrome

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Articles related to Bardet-Biedl Syndrome:

(show top 50)    (show all 397)
idTitleAuthorsYear
1
Adult surgical experience with loeys-dietz syndrome. (25678502)
2015
2
Intratympanic steroid injection as a first-line therapy in uremia patients with sudden sensorineural hearing loss. (25783847)
2015
3
Plasma IGFBP-2 levels after postoperative combined radiotherapy and chemotherapy predict prognosis in elderly glioblastoma patients. (24690948)
2014
4
Number of polyploid giant cancer cells and expression of EZH2 are associated with VM formation and tumor grade in human ovarian tumor. (25025074)
2014
5
Thyroid "atypia of undetermined significance" with nuclear atypia has high rates of malignancy and BRAF mutation. (24619974)
2014
6
Taenia eggs in a stabilization pond system with poor hydraulics: concern for human cysticercosis? (24355860)
2013
7
Birt-Hogg-DubAc syndrome. (24072552)
2013
8
Insulin-like growth factor (IGF) signaling requires I+vI^3-IGF1-IGF type 1 receptor (IGF1R) ternary complex formation in anchorage independence, and the complex formation does not require IGF1R and Src activation. (23243309)
2013
9
A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features. (22842074)
2012
10
HMGB1 promotes drug resistance in osteosarcoma. (22102692)
2012
11
Chondroblastoma of the temporal bone. (21504272)
2011
12
Late onset retinitis pigmentosa. (22136677)
2011
13
Neuroleptic malignant syndrome associated with bromocriptine withdrawal in Parkinson's disease--a case report. (21601731)
2011
14
Hypercalcemia and soft tissue calcification owing to sarcoidosis: the sunlight-cola connection. (20200968)
2010
15
Disulfide isomerase glucose-regulated protein 58 is required for the nuclear localization and degradation of retinoic acid receptor alpha. (20130111)
2010
16
Differences in mitochondrial proteins in the eutopic endometrium of patients with adenomyosis and endometriosis identified using surface-enhanced laser desorption/ionization time-of-flight mass spectrometry. (20819435)
2010
17
Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma. (19778308)
2009
18
Vitamin A deficiency and other factors associated with severe tuberculosis in Timor and Rote Islands, East Nusa Tenggara Province, Indonesia. (19471295)
2009
19
Acute drug-induced hepatitis caused by albendazole. (18955802)
2008
20
Differences in gene expression levels between early and later stages of human lung development are opposite to those between normal lung tissue and non-small lung cell carcinoma. (18394749)
2008
21
Sacral chordoma en-bloc resection and lumbar-iliac stabilization. (18641880)
2008
22
Concurrent chemobiotherapy with cisplatin, dacarbazine, decrescendo interleukin-2 and interferon alpha2b in patients with metastatic melanoma. (19020738)
2008
23
Interplay of two major repair pathways in the processing of complex double-strand DNA breaks. (18571480)
2008
24
Rel/NF-kappaB family member RelA regulates NK1.1- to NK1.1+ transition as well as IL-15-induced expansion of NKT cells. (19003818)
2008
25
Antibodies to pneumococcal surface protein A families 1 and 2 in serum and saliva of children and the risk of pneumococcal acute otitis media. (18008233)
2007
26
Diagnostic value of proton MR spectroscopy in peripheral arterial occlusive disease: a prospective evaluation. (17650565)
2007
27
A novel 4-bp insertion mutation in EDA1 gene in a Pakistani family with X-linked hypohidrotic ectodermal dysplasia. (17478381)
2007
28
Statistical mapping of effects of middle cerebral artery occlusion (MCAO) on blood flow and oxygen consumption in porcine brain. (17129609)
2007
29
Optimal cut-off value of PIVKA-II for diagnosis of hepatocellular carcinoma--using ROC curve]. (16998292)
2006
30
Unusual laboratory findings in a case of Norwegian scabies provided a clue to diagnosis. (15872307)
2005
31
Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin. (16116486)
2005
32
Serum levels of endostatin, vascular endothelial growth factor (VEGF) and hepatocyte growth factor (HGF) in patients with acute myocardial infarction undergoing early reperfusion therapy. (14965340)
2004
33
Adiponectin, the missing link in insulin resistance and obesity. (15380884)
2004
34
The synaptotagmins: calcium sensors for vesicular trafficking. (15534041)
2004
35
Mechanism of action of protease-activated receptors 1 and 4 in platelet activation]. (14575544)
2003
36
The proteasome inhibitor PS-341 inhibits growth, induces apoptosis, and overcomes drug resistance in human multiple myeloma cells. (11306489)
2001
37
Inflammatory mediators induce sequestration of VE-cadherin in cultured human endothelial cells. (10718113)
2000
38
Human immunodeficiency virus type 1 Tat-dependent activation of an arrested RNA polymerase II elongation complex. (10069959)
1999
39
Tuberculous peritonitis: fatality associated with delayed diagnosis. (10219360)
1999
40
Shh, Fgf4 and Hoxd gene expression in the mouse limb mutant hypodactyly. (9415493)
1997
41
Neurogenic genes and vertebrate neurogenesis. (8794055)
1996
42
Interaction of tau with the neural plasma membrane mediated by tau's amino-terminal projection domain. (8522593)
1995
43
Calcitonin as medication in pain?]. (8433948)
1993
44
Galactokinase activity in patients with idiopathic presenile and senile cataract. (1305705)
1992
45
The immunoglobulin receptors on B cells bind antigen, focus activation signals to them and initiate antigen-presentation. (2017652)
1991
46
Effect of some drugs on some histopathological and immunological aspects of experimental trichinosis in albino rats. (2332669)
1990
47
Etiology of acute epididymitis presenting in a venereal disease clinic. (6424249)
1984
48
Articulatory recovery after traumatic mutism. (6654280)
1983
49
Cavitary pneumonia associated with tularemia. (630947)
1978
50
Evidence of silent cerebral embolism in patients with amaurosis fugax. (915508)
1977

Variations for Bardet-Biedl Syndrome

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Clinvar genetic disease variations for Bardet-Biedl Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1BBS10NM_024685.3(BBS10): c.271dupT (p.Cys91Leufs)duplicationPathogenicrs549625604GRCh38Chr 12, 76347714: 76347714

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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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:

idNameGO IDScoreTop Affiliating Genes
1intraciliary transport particle BGO:003099210.7IFT172, IFT27
2ciliary transition zoneGO:003586910.7CEP290, MKS1
3axonemeGO:000593010.6ARL6, BBS1
4motile ciliumGO:003151410.5BBS4, IFT27
5BBSomeGO:003446410.4ARL6, BBIP1, BBS1, BBS7, BBS9
6centriolar satelliteGO:003445110.3BBS9, CEP290, SDCCAG8
7centrioleGO:000581410.3CEP290, MKS1
8ciliary basal bodyGO:003606410.2BBS2, MKKS
9photoreceptor connecting ciliumGO:00323919.9BBS4, CEP290, TTC8

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1pigment granule aggregation in cell centerGO:005187710.9BBS7, MKKS
2Golgi to plasma membrane protein transportGO:004300110.9BBS1, BBS2
3negative regulation of actin filament polymerizationGO:003083710.9BBS4, MKKS
4artery smooth muscle contractionGO:001482410.9BBS2, MKKS
5photoreceptor cell maintenanceGO:004549410.9BBS2, BBS4
6retina homeostasisGO:000189510.9BBS1, BBS4
7protein localization to organelleGO:003336510.9BBS2, BBS4
8leptin-mediated signaling pathwayGO:003321010.9BBS2, BBS4, MKKS
9fat cell differentiationGO:004544410.9MKKS, TRIM32
10intracellular transportGO:004690710.8BBS4, BBS7, MKKS
11adult behaviorGO:003053410.8BBS2, BBS4
12melanosome transportGO:003240210.8BBS2, BBS5, BBS7, MKKS
13limb developmentGO:006017310.8BBS7, IFT172
14regulation of stress fiber assemblyGO:005149210.8BBS4, MKKS, TTC8
15brain morphogenesisGO:004885410.7BBS2, BBS4
16protein localization to ciliumGO:006151210.7ARL6, BBS4
17regulation of smoothened signaling pathwayGO:000858910.7ARL6, IFT172, MKS1
18response to stimulusGO:005089610.6BBS1, BBS10, BBS5, BBS9
19sensory perception of smellGO:000760810.5BBS4, MKKS, TTC8
20nonmotile primary cilium assemblyGO:003505810.5BBS10, BBS2, BBS4, BBS7, MKKS, MKS1
21determination of left/right symmetryGO:000736810.5BBS7, IFT172, MKKS, MKS1
22cerebral cortex developmentGO:002198710.5BBS2, BBS4, MKKS
23smoothened signaling pathwayGO:000722410.5BBS7, IFT172, IFT27, WDPCP
24negative regulation of gene expressionGO:001062910.4BBS2, BBS4, MKKS
25cilium assemblyGO:004238410.3BBS2, BBS4, MKKS
26hippocampus developmentGO:002176610.3BBS2, BBS4, MKKS
27palate developmentGO:006002110.2BBS7, IFT172, WDPCP
28cilium morphogenesisGO:006027110.2BBS2, BBS7, CEP290, IFT172, MKKS, MKS1
29organelle organizationGO:000699610.2BBIP1, BBS2, BBS5, BBS7, IFT172
30protein transportGO:001503110.0BBS4, BBS7, BBS9
31visual perceptionGO:00076019.7ARL6, BBS1, BBS10, BBS2, BBS4, BBS5

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