MCID: LPD037
MIFTS: 49

Lipodystrophy, Familial Partial, 2 malady

Genetic diseases, Rare diseases, Skin diseases, Endocrine diseases, Fetal diseases, Metabolic diseases, Cardiovascular diseases categories

Aliases & Classifications for Lipodystrophy, Familial Partial, 2

About this section
Sources:
49OMIM, 11diseasecard, 67UniProtKB/Swiss-Prot, 51Orphanet, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 22GeneTests, 24GTR, 65UMLS, 36MeSH, 59SNOMED-CT, 42NCIt, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Lipodystrophy, Familial Partial, 2:

Name: Lipodystrophy, Familial Partial, 2 49 11 67
Lipoatrophic Diabetes 10 45 12 67
Fpld2 45 22 51 67
Lipodystrophy, Familial Partial, Dunnigan Type 45 22
Lipodystrophy, Familial Partial, Type 2 45 22
Familial Partial Lipodystrophy Type 2 51 24
Fpl2 45 67
Generalized Lipoatrophy Associated with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy and Leukomelanodermic Papules 67
Lipodystrophy, Familial, of Limbs and Lower Trunk 45
Lipodystrophy Familial of Limbs and Lower Trunk 67
 
Familial Partial Lipodystrophy, Dunnigan Type 51
Familial Partial Lipodystrophy Dunnigan Type 67
Familial Partial Lipodystrophy, Type 2 65
Familial Generalized Lipodystrophy 65
Diabetes Mellitus, Lipoatrophic 36
Lipoatrophic Diabetes Mellitus 65
Lipodystrophy, Reverse Partial 45
Lipodystrophy Reverse Partial 67
Dunnigan Syndrome 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
fpld2:
Inheritance: Autosomal dominant; Age of onset: Childhood


External Ids:

OMIM49 151660
Disease Ontology10 DOID:11712
NCIt42 C34537
Orphanet51 2348
UMLS via Orphanet66 C1720860
ICD10 via Orphanet28 E88.1
MedGen34 C1720860

Summaries for Lipodystrophy, Familial Partial, 2

About this section
OMIM:49 Familial partial lipodystrophy is a metabolic disorder characterized by abnormal subcutaneous adipose tissue... (151660) more...

MalaCards based summary: Lipodystrophy, Familial Partial, 2, also known as lipoatrophic diabetes, is related to aredyld and lipodystrophy, congenital generalized, type 2, and has symptoms including round face, diabetes mellitus and insulin resistance. An important gene associated with Lipodystrophy, Familial Partial, 2 is LMNA (Lamin A/C), and among its related pathways are Adipocytokine signaling pathway and Development_Leptin signaling via PI3K-dependent pathway. Affiliated tissues include skin, liver and heart, and related mouse phenotypes are pigmentation and adipose tissue.

Disease Ontology:10 A type 2 diabetes that involves severe lipodystrophy in addition to the traditional signs of diabetes.

UniProtKB/Swiss-Prot:67 Lipodystrophy, familial partial, 2: A disorder characterized by the loss of subcutaneous adipose tissue in the lower parts of the body (limbs, buttocks, trunk). It is accompanied by an accumulation of adipose tissue in the face and neck causing a double chin, fat neck, or cushingoid appearance. Adipose tissue may also accumulate in the axillae, back, labia majora, and intraabdominal region. Affected patients are insulin-resistant and may develop glucose intolerance and diabetes mellitus after age 20 years, hypertriglyceridemia, and low levels of high density lipoprotein cholesterol.

Related Diseases for Lipodystrophy, Familial Partial, 2

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Diseases in the Familial Partial Lipodystrophy family:

lipodystrophy, familial partial, 2 Lipodystrophy, Familial Partial, Type 5
Lipodystrophy, Familial Partial, Type 3 Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Partial, Acquired Lipodystrophy, Familial Partial, Type 6
Familial Partial Lipodystrophy Due to Akt2 Mutations Plin1-Related Familial Partial Lipodystrophy
Lipe-Related Familial Partial Lipodystrophy Cidec-Related Familial Partial Lipodystrophy
Pparg-Related Familial Partial Lipodystrophy Akt2-Related Familial Partial Lipodystrophy

Diseases related to Lipodystrophy, Familial Partial, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
idRelated DiseaseScoreTop Affiliating Genes
1aredyld10.5
2lipodystrophy, congenital generalized, type 210.4
3familial partial lipodystrophy10.4
4congenital generalized lipodystrophy10.3
5hyperglycemia10.3
6acquired generalized lipodystrophy10.3
7obstructive sleep apnea10.3
8sleep apnea10.3
9vascular disease10.3
10lipodystrophy, congenital generalized, type 110.2
11hypertriglyceridemia10.2
12ectodermal dysplasia10.2
13hepatitis10.2
14liver disease10.2
15rickets10.2
16neuropathy10.2
17pancreatitis10.2
18retinal degeneration10.2
19retinitis10.2
20nonalcoholic steatohepatitis10.2
21lipodystrophy10.1
22best vitelliform macular dystrophy10.0LEP, LMNA
23periventricular nodular heterotopia10.0LEP, LMNA
24multiple symmetrical lipomatosis9.9LEP, LMNA
25gummatous syphilis9.9LMNA, PTRF
26diabetes mellitus, noninsulin-dependent9.8GFPT1, LEP, LMNA
27lipomatosis9.7LEP, LMNA, PTRF
28lipodystrophy, familial partial, 29.1GFPT1, IRS4, LEP, LMNA, PDE3B, PTRF

Graphical network of the top 20 diseases related to Lipodystrophy, Familial Partial, 2:



Diseases related to lipodystrophy, familial partial, 2

Symptoms for Lipodystrophy, Familial Partial, 2

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Symptoms by clinical synopsis from OMIM:

151660

Clinical features from OMIM:

151660

Symptoms:

 51 (show all 36)
  • round face
  • skin hypoplasia/aplasia/atrophy
  • lipoatrophy
  • xanthomas/lipomas
  • hepatomegaly/liver enlargement (excluding storage disease)
  • diabetes mellitus
  • insulin resistance
  • muscle hypertrophy
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • autosomal dominant inheritance
  • abnormal fat distribution/lipodystrophy
  • premature eruption of teeth/natal teeth
  • anomalies of skin, subcutaneous tissue and mucosae
  • thin skin
  • nails anomalies
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • precocious menopause/secondary amenorrhea
  • cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue
  • acanthosis nigricans
  • hirsutism/hypertrichosis/increased body hair
  • storage liver disease
  • liver/hepatic steatosis
  • pancreatitis
  • splenomegaly
  • cardiomyopathy/hypertrophic/dilated
  • angor pectoris/myocardial infarction
  • heart/cardiac failure
  • renal glomerular defect/glomerulopathy
  • abnormal/polycystic ovaries
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • cranial nerves palsy
  • myopathy
  • myalgia/muscular pain
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • anomalies of complement
  • maternal hypertension/eclampsia/preeclampsia/gravidic toxemia

HPO human phenotypes related to Lipodystrophy, Familial Partial, 2:

(show all 56)
id Description Frequency HPO Source Accession
1 round face hallmark (90%) HP:0000311
2 diabetes mellitus hallmark (90%) HP:0000819
3 insulin resistance hallmark (90%) HP:0000855
4 multiple lipomas hallmark (90%) HP:0001012
5 hepatomegaly hallmark (90%) HP:0002240
6 abnormality of lipid metabolism hallmark (90%) HP:0003119
7 skeletal muscle hypertrophy hallmark (90%) HP:0003712
8 lipoatrophy hallmark (90%) HP:0100578
9 secondary amenorrhea typical (50%) HP:0000869
10 thin skin typical (50%) HP:0000963
11 abnormality of the nail typical (50%) HP:0001597
12 advanced eruption of teeth typical (50%) HP:0006288
13 polycystic ovaries occasional (7.5%) HP:0000147
14 acanthosis nigricans occasional (7.5%) HP:0000956
15 hypertrichosis occasional (7.5%) HP:0000998
16 hepatic steatosis occasional (7.5%) HP:0001397
17 congestive heart failure occasional (7.5%) HP:0001635
18 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
19 coronary artery disease occasional (7.5%) HP:0001677
20 splenomegaly occasional (7.5%) HP:0001744
21 myopathy occasional (7.5%) HP:0003198
22 myalgia occasional (7.5%) HP:0003326
23 abnormality of complement system occasional (7.5%) HP:0005339
24 cranial nerve paralysis occasional (7.5%) HP:0006824
25 toxemia of pregnancy occasional (7.5%) HP:0100603
26 cellulitis occasional (7.5%) HP:0100658
27 glomerulopathy occasional (7.5%) HP:0100820
28 autosomal dominant inheritance HP:0000006
29 polycystic ovaries HP:0000147
30 increased facial adipose tissue HP:0000287
31 round face HP:0000311
32 increased adipose tissue around the neck HP:0000468
33 hypertension HP:0000822
34 insulin-resistant diabetes mellitus HP:0000831
35 hyperinsulinemia HP:0000842
36 acanthosis nigricans HP:0000956
37 xanthomatosis HP:0000991
38 decreased subcutaneous fat HP:0001002
39 hirsutism HP:0001007
40 prominent superficial veins HP:0001015
41 hepatic steatosis HP:0001397
42 acute pancreatitis HP:0001735
43 hypertriglyceridemia HP:0002155
44 hepatomegaly HP:0002240
45 atherosclerosis HP:0002621
46 hyperglycemia HP:0003074
47 hypoalphalipoproteinemia HP:0003233
48 myalgia HP:0003326
49 loss of subcutaneous adipose tissue in limbs HP:0003635
50 skeletal muscle hypertrophy HP:0003712
51 labial pseudohypertrophy HP:0008739
52 adipose tissue loss HP:0008887
53 increased intramuscular fat HP:0008985
54 increased intraabdominal fat HP:0008993
55 loss of truncal subcutaneous adipose tissue HP:0009002
56 enlarged peripheral nerve HP:0012645

Drugs & Therapeutics for Lipodystrophy, Familial Partial, 2

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Drugs for Lipodystrophy, Familial Partial, 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2CatharticsPhase 2278
3LaxativesPhase 2278
4
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
1CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Metreleptin in Various Forms of Partial LipodystrophyRecruitingNCT02654977Phase 2
2Expanded Access Metreleptin StudyEnrolling by invitationNCT02404896Phase 2
3Phase 2 Study of Obeticholic Acid for Lipodystrophy PatientsNot yet recruitingNCT02430077Phase 2
4Identification of a New Gene Involved in Hereditary LipodystrophyCompletedNCT02056912

Search NIH Clinical Center for Lipodystrophy, Familial Partial, 2


Cochrane evidence based reviews: Diabetes Mellitus, Lipoatrophic

Genetic Tests for Lipodystrophy, Familial Partial, 2

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Genetic tests related to Lipodystrophy, Familial Partial, 2:

id Genetic test Affiliating Genes
1 Familial Partial Lipodystrophy Type 222 LMNA
2 Lipodystrophy, Familial Partial, Type 224

Anatomical Context for Lipodystrophy, Familial Partial, 2

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MalaCards organs/tissues related to Lipodystrophy, Familial Partial, 2:

33
Skin, Liver, Heart, Ovary, Skeletal muscle

Animal Models for Lipodystrophy, Familial Partial, 2 or affiliated genes

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MGI Mouse Phenotypes related to Lipodystrophy, Familial Partial, 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4LEP, LMNA, PDE3B
2MP:00053759.2LEP, LMNA, PDE3B
3MP:00053767.6IRS4, LEP, LMNA, PDE3B, PTRF
4MP:00053787.5IRS4, LEP, LMNA, PDE3B, PTRF

Publications for Lipodystrophy, Familial Partial, 2

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Variations for Lipodystrophy, Familial Partial, 2

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UniProtKB/Swiss-Prot genetic disease variations for Lipodystrophy, Familial Partial, 2:

67 (show all 16)
id Symbol AA change Variation ID SNP ID
1LMNAp.Gly465AspVAR_009989
2LMNAp.Arg482LeuVAR_009991
3LMNAp.Arg482GlnVAR_009992rs11575937
4LMNAp.Arg482TrpVAR_009993
5LMNAp.Lys486AsnVAR_009994
6LMNAp.Arg527ProVAR_009995
7LMNAp.Arg582HisVAR_009998rs57830985
8LMNAp.Arg133LeuVAR_016913
9LMNAp.Arg60GlyVAR_034706rs28928900
10LMNAp.Arg28TrpVAR_039748rs59914820
11LMNAp.Arg62GlyVAR_039755rs56793579
12LMNAp.Asp230AsnVAR_039770
13LMNAp.Arg399CysVAR_039778
14LMNAp.Ser573LeuVAR_039789
15LMNAp.Arg439CysVAR_070181
16LMNAp.Lys515GluVAR_071968

Clinvar genetic disease variations for Lipodystrophy, Familial Partial, 2:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.178C> G (p.Arg60Gly)single nucleotide variantPathogenicrs28928900GRCh37Chr 1, 156084887: 156084887
2LMNANM_170707.3(LMNA): c.1580G> C (p.Arg527Pro)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_170707.3(LMNA): c.1445G> A (p.Arg482Gln)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
4LMNANM_170707.3(LMNA): c.398G> T (p.Arg133Leu)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
5LMNANM_005572.3(LMNA): c.1444C> T (p.Arg482Trp)single nucleotide variantPathogenicrs57920071GRCh37Chr 1, 156106775: 156106775
6LMNANM_170707.3(LMNA): c.1445G> T (p.Arg482Leu)single nucleotide variantPathogenicrs11575937GRCh37Chr 1, 156106776: 156106776
7LMNANM_170707.3(LMNA): c.1394G> A (p.Gly465Asp)single nucleotide variantPathogenicrs61282106GRCh37Chr 1, 156106725: 156106725
8LMNANM_170707.3(LMNA): c.1745G> A (p.Arg582His)single nucleotide variantPathogenicrs57830985GRCh37Chr 1, 156108325: 156108325
9LMNANM_170707.3(LMNA): c.1718C> T (p.Ser573Leu)single nucleotide variantPathogenicrs60890628GRCh37Chr 1, 156108298: 156108298
10LMNANM_170707.3(LMNA): c.688G> A (p.Asp230Asn)single nucleotide variantPathogenicrs61214927GRCh37Chr 1, 156104644: 156104644
11LMNANM_170707.3(LMNA): c.1195C> T (p.Arg399Cys)single nucleotide variantLikely pathogenic, Pathogenicrs58672172GRCh37Chr 1, 156106042: 156106042
12LMNANM_005572.3(LMNA): c.1458G> T (p.Lys486Asn)single nucleotide variantPathogenicrs59981161GRCh37Chr 1, 156106789: 156106789
13LMNANM_170707.3(LMNA): c.1488+5G> Csingle nucleotide variantPathogenicrs267607543GRCh37Chr 1, 156106824: 156106824
14LMNANM_170707.3(LMNA): c.1961dupG (p.Thr655Asnfs)duplicationPathogenicGRCh37Chr 1, 156108541: 156108541

Expression for genes affiliated with Lipodystrophy, Familial Partial, 2

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Search GEO for disease gene expression data for Lipodystrophy, Familial Partial, 2.

Pathways for genes affiliated with Lipodystrophy, Familial Partial, 2

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Pathways related to Lipodystrophy, Familial Partial, 2 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5IRS4, LEP
29.4LEP, PDE3B
39.3IRS4, PDE3B
49.1IRS4, LEP, LMNA

GO Terms for genes affiliated with Lipodystrophy, Familial Partial, 2

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Cellular components related to Lipodystrophy, Familial Partial, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058297.6GFPT1, IRS4, LMNA, PDE3B, PTRF

Biological processes related to Lipodystrophy, Familial Partial, 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of protein localization to nucleusGO:190018010.1LEP, LMNA
2energy reserve metabolic processGO:00061129.8GFPT1, LEP
3regulation of insulin secretionGO:00507969.7LEP, PDE3B
4endoplasmic reticulum unfolded protein responseGO:00309689.4GFPT1, LMNA
5glucose homeostasisGO:00425939.4LEP, PDE3B
6IRE1-mediated unfolded protein responseGO:00364989.2GFPT1, LMNA

Sources for Lipodystrophy, Familial Partial, 2

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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