MCID: BRR012
MIFTS: 38

Berardinelli-Seip Congenital Lipodystrophy malady

Genetic diseases (common) category

Aliases & Classifications for Berardinelli-Seip Congenital Lipodystrophy

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Aliases & Descriptions for Berardinelli-Seip Congenital Lipodystrophy:

Name: Berardinelli-Seip Congenital Lipodystrophy 21 22 23 24
Berardinelli-Seip Congenital Generalized Lipodystrophy 21 22
Lipodystrophy, Congenital Generalized 23 47
Congenital Generalized Lipodystrophy 21 23
Congenital Generalized Lipodystrophy Type 2 65
Familial Generalized Lipodystrophy 65
 
Berardinelli-Seip Syndrome 23
Generalized Lipodystrophy 23
Total Lipodystrophy 23
Brunzell Syndrome 23
Seip Syndrome 23
Bscl 23


Classifications:



Summaries for Berardinelli-Seip Congenital Lipodystrophy

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Genetics Home Reference:23 Berardinelli-Seip congenital lipodystrophy is a rare condition characterized by a lack of fatty (adipose) tissue in the body. This lack of adipose tissue means that fats must be stored elsewhere in the body, such as in the liver and muscles. The abnormal handling and storage of fats leads to serious medical problems. This condition is part of a group of related disorders known as lipodystrophies, which are all characterized by problems with adipose tissue.

MalaCards based summary: Berardinelli-Seip Congenital Lipodystrophy, also known as berardinelli-seip congenital generalized lipodystrophy, is related to lipodystrophy, congenital generalized, type 2 and lipodystrophy, familial partial, 2. An important gene associated with Berardinelli-Seip Congenital Lipodystrophy is BSCL2 (Berardinelli-Seip Congenital Lipodystrophy 2 (Seipin)), and among its related pathways are Insulin-mediated glucose transport and Transcription_Transcription factor Tubby signaling pathways. Affiliated tissues include liver and adipocyte, and related mouse phenotypes are digestive/alimentary and skeleton.

GeneReviews summary for bscl

Related Diseases for Berardinelli-Seip Congenital Lipodystrophy

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Diseases related to Berardinelli-Seip Congenital Lipodystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 113)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy, congenital generalized, type 231.5BSCL2, LMNA
2lipodystrophy, familial partial, 230.2LEP, LMNA
3hypertriglyceridemia29.6ADIPOQ, INS, INSR
4diabetes mellitus, noninsulin-dependent28.3ADIPOQ, AGPAT2, BSCL2, INS, INSR, LEP
5lipodystrophy11.2
6lipodystrophy, congenital generalized, type 110.7
7lipodystrophy, congenital generalized, type 410.7
8congenital generalized lipodystrophy10.6
9prostate cancer10.5
10lipodystrophy, congenital generalized, type 310.5
11osteoarthritis10.5
12acute pancreatitis10.5
13dystonia10.5
14pancreatitis10.5
15periodontitis10.4
16acquired generalized lipodystrophy10.4
17keppen-lubinsky syndrome10.3
18acquired pure red cell aplasia10.3BSCL2, CAV1
19mouth disease10.2AGPAT2, BSCL2
20classic kaposi sarcoma10.2LEP, LEPQTL1
21wolffian duct adenoma10.2AGPAT2, ZMPSTE24
22mandibuloacral dysplasia with type b lipodystrophy10.2
23panniculitis10.2
24restrictive dermopathy, lethal10.2LMNA, ZMPSTE24
25leptomeningeal amyloidosis10.1LEP, LEPQTL1
26myocardial infarction10.1
27insulin-like growth factor i10.1
28dilated cardiomyopathy10.1
29gas gangrene10.1
30hepatitis10.1
31amyloidosis10.1
32cervicitis10.1
33long qt syndrome10.1
34muscular dystrophy10.1
35myopathy10.1
36cardiomyopathy10.1
37angiomatosis10.1
38acanthosis nigricans10.1
39hereditary sensory and autonomic neuropathy with spastic paraplegia10.1LMNA, ZMPSTE24
40hutchinson-gilford progeria10.1LMNA, ZMPSTE24
41ovarian disease10.1LMNA, ZMPSTE24
42insulin-resistance type b10.1INS, INSR
43reynolds syndrome10.1LMNA, ZMPSTE24
44cockayne syndrome10.0
45cytophagic histiocytic panniculitis10.0
46pineal gland cancer10.0AGPAT2, INSR
47acquired hemophilia10.0ADIPOQ, LEP
48coronary heart disease 610.0
49autoimmune hepatitis10.0
50skin conditions10.0

Graphical network of the top 20 diseases related to Berardinelli-Seip Congenital Lipodystrophy:



Diseases related to berardinelli-seip congenital lipodystrophy

Symptoms for Berardinelli-Seip Congenital Lipodystrophy

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Drugs & Therapeutics for Berardinelli-Seip Congenital Lipodystrophy

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Drugs for Berardinelli-Seip Congenital Lipodystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 2, Phase 34069
2Insulin, Globin ZincPhase 2, Phase 34069
3
chenodeoxycholic acidapprovedPhase 223474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodal
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
4LaxativesPhase 2278
5CatharticsPhase 2278
6
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
Ultra Strength Stopain Pain Relieving
Us Favorite Cold Pain Relieving
Vaporizing Colds Rub
Vicks Vapodrops Cough Relief
Vitaminerals Inc. Cryogel Natural Pain Relieving
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
Walgreens Aloe Vera Cooling
Watermelon Frost Sore Throat
Wellpatch Backache Pain Relief
Xtracare Ice Cold Topical Analgesic Gel
Youngevity Invision CM
Yun Xiang Jing
ZINC01482164
Zhong Hua Jiu Patch
Zims Arnica Max
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Trial of Leptin Replacement Therapy in Patients With LipodystrophyCompletedNCT00896298Phase 2, Phase 3
2Compassionate Use of Metreleptin in Previously Treated People With Generalized LipodystrophyEnrolling by invitationNCT02262832Phase 3
3Compassionate Use of Metreleptin in Previously Treated People With Partial LipodystrophyEnrolling by invitationNCT02262806Phase 3
4Leptin to Treat LipodystrophyCompletedNCT00025883Phase 2
5Expanded Access Metreleptin StudyEnrolling by invitationNCT02404896Phase 2
6Phase 2 Study of Obeticholic Acid for Lipodystrophy PatientsNot yet recruitingNCT02430077Phase 2
7Identification of a New Gene Involved in Hereditary LipodystrophyCompletedNCT02056912
8Lipodystrophy Connect Patient RegistryRecruitingNCT02577952
9Post Authorisation Safety Registry for US Patients With Generalised Lipodystrophy Treated With MetreleptinNot yet recruitingNCT02325674

Search NIH Clinical Center for Berardinelli-Seip Congenital Lipodystrophy

Genetic Tests for Berardinelli-Seip Congenital Lipodystrophy

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Genetic tests related to Berardinelli-Seip Congenital Lipodystrophy:

id Genetic test Affiliating Genes
1 Berardinelli-Seip Congenital Lipodystrophy22 24 BSCL2

Anatomical Context for Berardinelli-Seip Congenital Lipodystrophy

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MalaCards organs/tissues related to Berardinelli-Seip Congenital Lipodystrophy:

33
Liver, Adipocyte

Animal Models for Berardinelli-Seip Congenital Lipodystrophy or affiliated genes

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MGI Mouse Phenotypes related to Berardinelli-Seip Congenital Lipodystrophy:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.1AGPAT2, BSCL2, CAV1, INS, INSR, LEP
2MP:00053907.8ADIPOQ, AGPAT2, CAV1, INS, LEP, LMNA
3MP:00107717.3ADIPOQ, AGPAT2, BSCL2, CAV1, INS, LEP
4MP:00053897.3BSCL2, CAV1, INS, INSR, LEP, LMNA
5MP:00053697.1ADIPOQ, CAV1, INS, INSR, LEP, LMNA
6MP:00053796.9ADIPOQ, AGPAT2, CAV1, INS, INSR, LEP
7MP:00053846.9ADIPOQ, BSCL2, CAV1, INS, INSR, LEP
8MP:00053856.8ADIPOQ, BSCL2, CAV1, INS, INSR, LEP
9MP:00053756.7ADIPOQ, AGPAT2, BSCL2, CAV1, INS, INSR
10MP:00053706.6ADIPOQ, AGPAT2, BSCL2, CAV1, INS, INSR
11MP:00053676.6ADIPOQ, AGPAT2, BSCL2, CAV1, INS, INSR
12MP:00107686.5ADIPOQ, AGPAT2, BSCL2, CAV1, INS, INSR
13MP:00053786.5ADIPOQ, AGPAT2, BSCL2, CAV1, INS, INSR
14MP:00053866.4ADIPOQ, AGPAT2, BSCL2, CAV1, INS, INSR
15MP:00053766.3ADIPOQ, AGPAT2, BSCL2, CAV1, INS, INSR
16MP:00053876.3ADIPOQ, AGPAT2, BSCL2, CAV1, INS, INSR
17MP:00053976.2ADIPOQ, AGPAT2, BSCL2, CAV1, INS, INSR

Publications for Berardinelli-Seip Congenital Lipodystrophy

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Articles related to Berardinelli-Seip Congenital Lipodystrophy:

(show all 26)
idTitleAuthorsYear
1
Case report: Dental management of Berardinelli-Seip congenital lipodystrophy. (26573975)
2015
2
Berardinelli-Seip congenital lipodystrophy 2 regulates adipocyte lipolysis, browning, and energy balance in adult animals. (26269358)
2015
3
Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps. (24825083)
2014
4
Berardinelli-Seip congenital lipodystrophy in two siblings. (25506557)
2014
5
A very rare cause of acute pancreatitis: Berardinelli-Seip congenital lipodystrophy. (25910311)
2014
6
An incidental finding of striking muscular hypertrophy leading to a diagnosis of Berardinelli Seip Congenital Lipodystrophy. (24023365)
2013
7
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome. (23337016)
2013
8
Berardinelli-seip congenital lipodystrophy 2/seipin is a cell-autonomous regulator of lipolysis essential for adipocyte differentiation. (22269949)
2012
9
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin. (20236991)
2010
10
Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency. (20097706)
2010
11
Early course of Berardinelli-Seip congenital lipodystrophy (BSCL). (20301053)
2010
12
Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL). (19167372)
2009
13
Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene. (19762912)
2009
14
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. (19574402)
2009
15
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. (19278620)
2009
16
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation. (19041432)
2009
17
Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy. (18211975)
2008
18
Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil. (17535271)
2007
19
Berardinelli-Seip congenital lipodystrophy. (16735770)
2006
20
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli-Seip congenital lipodystrophy patients. (16435205)
2005
21
Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. (15732094)
2005
22
Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil. (14715872)
2004
23
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects. (15181077)
2004
24
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. (12362029)
2002
25
Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. (11916958)
2002
26
Berardinelli-Seip Congenital Lipodystrophy (20301391)
1993

Variations for Berardinelli-Seip Congenital Lipodystrophy

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Clinvar genetic disease variations for Berardinelli-Seip Congenital Lipodystrophy:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_032667.6(BSCL2): c.192_193delCCinsGGA (p.Ser64Argfs)indelPathogenicrs786205068GRCh38Chr 11, 62705320: 62705321
2NM_032667.6(BSCL2): c.301_302insAA (p.Met101Lysfs)insertionPathogenicrs786205069GRCh38Chr 11, 62694704: 62694705
3NM_032667.6(BSCL2): c.315_316delGT (p.Tyr106Serfs)deletionPathogenicrs786205070GRCh38Chr 11, 62694690: 62694691
4BSCL2BSCL2, 258-BP DEL/12-BP INSindelPathogenic
5NM_001122955.3(BSCL2): c.509_513delATCGT (p.Tyr170Cysfs)deletionPathogenicrs587777608GRCh38Chr 11, 62694685: 62694689
6NM_032667.6(BSCL2): c.325dupA (p.Thr109Asnfs)duplicationPathogenicrs786205071GRCh38Chr 11, 62694681: 62694681
7NM_001122955.3(BSCL2): c.604C> T (p.Arg202Ter)single nucleotide variantPathogenicrs137852970GRCh37Chr 11, 62462066: 62462066
8BSCL2BSCL2, IVS4, G-A, +1single nucleotide variantPathogenic
9NM_001122955.3(BSCL2): c.826G> C (p.Ala276Pro)single nucleotide variantPathogenicrs137852971GRCh37Chr 11, 62459885: 62459885
10NM_032667.6(BSCL2): c.636delC (p.Tyr213Thrfs)deletionPathogenicrs758843908GRCh38Chr 11, 62692411: 62692411
11NM_032667.6(BSCL2): c.671+5G> Asingle nucleotide variantPathogenicrs786205072GRCh38Chr 11, 62692371: 62692371
12NM_032667.6(BSCL2): c.672-3C> Gsingle nucleotide variantPathogenicrs786205073GRCh38Chr 11, 62691424: 62691424
13NM_001122955.3(BSCL2): c.1015C> T (p.Arg339Ter)single nucleotide variantPathogenicrs137852974GRCh37Chr 11, 62458604: 62458604
14NM_032667.6(BSCL2): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs137852975GRCh37Chr 11, 62460143: 62460143

Expression for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Search GEO for disease gene expression data for Berardinelli-Seip Congenital Lipodystrophy.

Pathways for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Pathways related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2INS, INSR
29.2INS, INSR
38.9CAV1, INS, INSR
4
Show member pathways
8.8ADIPOQ, AGPAT2, LEP, PPARG
58.6CAV1, INS, INSR, LEP
6
Show member pathways
8.6ADIPOQ, INS, INSR
7
Show member pathways
8.3ADIPOQ, INS, INSR, LEP
8
Show member pathways
8.3ADIPOQ, INS, INSR, LEP
9
Show member pathways
8.3ADIPOQ, INS, INSR, LEP
108.2ADIPOQ, INS, INSR, PPARG
11
Show member pathways
7.8ADIPOQ, INS, INSR, LEP, PPARG
127.4ADIPOQ, AGPAT2, BSCL2, INS, LEP, LMNA

GO Terms for genes affiliated with Berardinelli-Seip Congenital Lipodystrophy

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Biological processes related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1regulation of protein localization to nucleusGO:190018010.4LEP, LMNA
2positive regulation of insulin receptor signaling pathwayGO:004662810.3INS, LEP
3negative regulation of lipid catabolic processGO:005099510.3BSCL2, INS
4positive regulation of cytokine productionGO:000181910.3AGPAT2, LEP
5nuclear envelope organizationGO:000699810.3LMNA, ZMPSTE24
6regulation of fat cell differentiationGO:004559810.2LEP, PPARG
7response to dietary excessGO:000202110.2LEP, PPARG
8lipid storageGO:001991510.1BSCL2, CAV1
9negative regulation of acute inflammatory responseGO:000267410.1INS, PPARG
10fatty acid oxidationGO:001939510.0ADIPOQ, PPARG
11negative regulation of macrophage derived foam cell differentiationGO:001074510.0ADIPOQ, PPARG
12positive regulation of developmental growthGO:004863910.0INSR, LEP
13membrane depolarizationGO:00518999.9ADIPOQ, CAV1
14positive regulation of respiratory burstGO:00602679.9INS, INSR
15brown fat cell differentiationGO:00508739.9ADIPOQ, PPARG
16positive regulation of glycogen biosynthetic processGO:00457259.8INS, INSR
17negative regulation of gluconeogenesisGO:00457219.8ADIPOQ, INS
18positive regulation of cellular protein metabolic processGO:00322709.8ADIPOQ, INS
19positive regulation of glycolytic processGO:00458219.7INS, INSR
20activation of protein kinase B activityGO:00321489.7INS, INSR
21negative regulation of MAP kinase activityGO:00434079.6ADIPOQ, CAV1
22negative regulation of smooth muscle cell proliferationGO:00486629.4ADIPOQ, CAV1, PPARG
23positive regulation of nitric oxide biosynthetic processGO:00454299.4INS, INSR
24positive regulation of DNA replicationGO:00457409.4INS, INSR
25cellular response to hyperoxiaGO:00714559.4CAV1, PPARG
26glucose metabolic processGO:00060069.4ADIPOQ, INS, LEP
27positive regulation of MAPK cascadeGO:00434109.3INS, INSR, LEP
28positive regulation of mitotic nuclear divisionGO:00458409.2INS, INSR
29response to nutrientGO:00075849.2ADIPOQ, CAV1, LEP, PPARG
30response to hypoxiaGO:00016669.1ADIPOQ, CAV1, LEP
31positive regulation of glucose importGO:00463269.0ADIPOQ, INS, INSR
32cellular response to insulin stimulusGO:00328698.6ADIPOQ, INSR, PPARG
33glucose homeostasisGO:00425938.0ADIPOQ, INS, INSR, LEP, PPARG

Molecular functions related to Berardinelli-Seip Congenital Lipodystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor receptor bindingGO:00051599.6INS, INSR
2hormone activityGO:00051799.1ADIPOQ, INS, LEP

Sources for Berardinelli-Seip Congenital Lipodystrophy

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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