MDPL
MCID: MND021
MIFTS: 62

Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome (MDPL)

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

MalaCards integrated aliases for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

Name: Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 57 53 74 29 6
Lipodystrophy 44 17 72
Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome 53 59
Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome 53 59
Mdpl Syndrome 53 59
Mdp Syndrome 53 59
Mdpl 57 74
Hypoplasia, Mandibular, Deafness, Progeroid Features, and Lipodystrophy Syndrome 40
Andibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 72
Mandibular Hypoplasia, Deafness, Progeroid Features 53
Mandibular Hypoplasia-Deafness-Progeroid Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of lipodystrophy in early childhood
onset of hearing loss in first or second decade


HPO:

32
mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615381
ICD10 33 E88.1
ICD10 via Orphanet 34 E34.8
Orphanet 59 ORPHA363649
UMLS 72 C0023787 C3715192

Summaries for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 363649DefinitionMandibular hypoplasia-deafness-progeroid syndrome is a rare, genetic, premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, hypertriglycemia and diabetes mellitus/insulin resistance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome, also known as lipodystrophy, is related to mandibuloacral dysplasia with type a lipodystrophy and lipodystrophy, congenital generalized, type 2, and has symptoms including decreased adipose tissue An important gene associated with Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome is POLD1 (DNA Polymerase Delta 1, Catalytic Subunit), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and AMP-activated Protein Kinase (AMPK) Signaling. The drugs Ritonavir and Nelfinavir have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related phenotypes are diabetes mellitus and scoliosis

OMIM : 57 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance, and metabolic abnormalities including insulin resistance and diabetes mellitus. Sensorineural deafness occurs late in the first or second decades of life (summary by Weedon et al., 2013). (615381)

UniProtKB/Swiss-Prot : 74 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life.

Wikipedia : 75 MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely... more...

Related Diseases for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Diseases related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 548)
# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 34.5 ZMPSTE24 LMNA
2 lipodystrophy, congenital generalized, type 2 34.3 LMNA BSCL2 AGPAT2
3 lipodystrophy, familial partial, type 3 34.2 LMNA BSCL2 AGPAT2
4 lipodystrophy, congenital generalized, type 3 33.8 LPIN1 BSCL2 AGPAT2
5 lipodystrophy, familial partial, type 1 33.7 LMNA LEP INS
6 lipodystrophy, congenital generalized, type 4 33.6 LMNA BSCL2 AGPAT2 ADIPOQ
7 lipodystrophy, familial partial, type 2 33.2 LMNA LEP INS AGPAT2
8 berardinelli-seip congenital lipodystrophy 33.1 LEP BSCL2 AGPAT2
9 familial partial lipodystrophy 32.7 LMNA LEP INS BSCL2 AGPAT2
10 congenital generalized lipodystrophy 32.4 ZMPSTE24 LMNA LEP BSCL2 AGPAT2
11 complete generalized lipodystrophy 31.3 ZMPSTE24 LMNA LEP INS BSCL2 AGPAT2
12 acquired generalized lipodystrophy 31.1 ZMPSTE24 LMNA LEP INS BSCL2 AGPAT2
13 lipodystrophy, congenital generalized, type 1 31.1 ZMPSTE24 LMNA LEP INS BSCL2 AGPAT2
14 acroosteolysis 30.4 ZMPSTE24 LMNA
15 lipid metabolism disorder 30.4 LEP INS ADIPOQ
16 fatty liver disease 30.2 LEP INS ADIPOQ
17 monogenic diabetes 30.1 INS BSCL2
18 hutchinson-gilford progeria syndrome 30.0 ZMPSTE24 LMNA
19 restrictive dermopathy, lethal 29.9 ZMPSTE24 LMNA
20 spastic paraplegia 17, autosomal dominant 29.9 BSCL2 AGPAT2
21 adiposis dolorosa 29.8 ZMPSTE24 AGPAT2
22 hyperglycemia 29.8 LEP INS ADIPOQ
23 glucose intolerance 29.8 LEP INS ADIPOQ
24 acanthosis nigricans 29.8 LMNA LEP INS ADIPOQ
25 liver disease 29.6 LEP INS ADIPOQ
26 fatty liver disease, nonalcoholic 1 29.5 LEP INS ADIPOQ
27 sleep apnea 29.3 LEP INS ADIPOQ
28 abdominal obesity-metabolic syndrome 1 29.2 LEP INS ADIPOQ
29 anovulation 29.1 LEP INS
30 gestational diabetes 29.0 LEP INS ADIPOQ
31 apnea, obstructive sleep 28.8 LEP INS ADIPOQ
32 inherited metabolic disorder 28.8 LEP INS ADIPOQ
33 hypertension, essential 28.5 LEP INS ADIPOQ
34 diabetes mellitus, noninsulin-dependent 28.5 LPIN1 LMNA LEP INS ADIPOQ
35 body mass index quantitative trait locus 11 28.2 LPIN1 LMNA LEP INS ADIPOQ
36 lipodystrophy, partial, acquired 12.8
37 lipodystrophy, familial partial, type 4 12.8
38 marfanoid-progeroid-lipodystrophy syndrome 12.8
39 lipodystrophy, familial partial, type 5 12.7
40 lipodystrophy, familial partial, type 6 12.7
41 localized lipodystrophy 12.7
42 lipodystrophy, familial partial, type 7 12.6
43 mandibuloacral dysplasia with type b lipodystrophy 12.6
44 encephalopathy, progressive, with or without lipodystrophy 12.6
45 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 12.5
46 proteasome-associated autoinflammatory syndrome 1 12.5
47 acquired lipodystrophy 12.3
48 familial partial lipodystrophy due to akt2 mutations 12.3
49 genetic lipodystrophy 12.3
50 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones 12.2

Graphical network of the top 20 diseases related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:



Diseases related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome

Symptoms & Phenotypes for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Human phenotypes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 32 HP:0000819
2 scoliosis 32 HP:0002650
3 kyphosis 32 HP:0002808
4 hepatomegaly 32 HP:0002240
5 sensorineural hearing impairment 32 HP:0000407
6 flexion contracture 32 HP:0001371
7 osteoporosis 32 HP:0000939
8 hypertriglyceridemia 32 HP:0002155
9 micrognathia 32 HP:0000347
10 lack of skin elasticity 32 HP:0100679
11 narrow mouth 32 HP:0000160
12 cryptorchidism 32 HP:0000028
13 hepatic steatosis 32 HP:0001397
14 elevated hepatic transaminase 32 HP:0002910
15 lipodystrophy 32 HP:0009125
16 hypogonadism 32 HP:0000135
17 dental crowding 32 HP:0000678
18 proptosis 32 HP:0000520
19 convex nasal ridge 32 HP:0000444
20 high pitched voice 32 HP:0001620
21 scleroderma 32 HP:0100324
22 insulin resistance 32 HP:0000855
23 telangiectasia 32 HP:0001009
24 dermal atrophy 32 HP:0004334

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus
insulin resistance
hypogonadism (in males)

Abdomen Liver:
hepatomegaly
hepatic steatosis

Laboratory Abnormalities:
hypertriglyceridemia
abnormal liver function tests

Muscle Soft Tissue:
lipodystrophy
loss of subcutaneous fat, generalized
loss of subcutaneous fat, particularly affecting the limbs
increased visceral fat

Growth Weight:
normal birth weight

Head And Neck Mouth:
small mouth

Voice:
high-pitched voice

Head And Neck Eyes:
prominent eyes

Chest Breasts:
poor breast development (in women)

Skeletal Spine:
scoliosis
kyphosis

Skeletal:
osteoporosis
joint contractures

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Ears:
sensorineural deafness

Head And Neck Nose:
beaked nose

Head And Neck Face:
mandibular hypoplasia
progeroid appearance

Skin Nails Hair Skin:
skin atrophy
telangiectases
tight skin
scleroderma-like changes

Head And Neck Teeth:
crowded teeth

Clinical features from OMIM:

615381

UMLS symptoms related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:


decreased adipose tissue

MGI Mouse Phenotypes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.16 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
2 behavior/neurological MP:0005386 10.15 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
3 endocrine/exocrine gland MP:0005379 10.15 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
4 cardiovascular system MP:0005385 10.14 ADIPOQ BSCL2 INS LEP LMNA LPIN1
5 growth/size/body region MP:0005378 10.08 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
6 cellular MP:0005384 10.07 ADIPOQ BSCL2 INS LEP LMNA POLD1
7 hematopoietic system MP:0005397 10.06 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
8 homeostasis/metabolism MP:0005376 10.03 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
9 integument MP:0010771 10.02 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
10 immune system MP:0005387 10.01 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
11 digestive/alimentary MP:0005381 9.99 AGPAT2 BSCL2 INS LEP LMNA ZMPSTE24
12 liver/biliary system MP:0005370 9.92 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
13 mortality/aging MP:0010768 9.91 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
14 muscle MP:0005369 9.7 ADIPOQ INS LEP LMNA LPIN1 POLD1
15 renal/urinary system MP:0005367 9.5 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
16 skeleton MP:0005390 9.23 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA

Drugs & Therapeutics for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Drugs for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 167)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Nelfinavir Approved Phase 4 159989-64-7 64143
3
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
4
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
5
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
6
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
7
Lopinavir Approved Phase 4 192725-17-0 92727
8
Zidovudine Approved Phase 4 30516-87-1 35370
9
Amprenavir Approved, Investigational Phase 4 161814-49-9 65016
10
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
11
Tipranavir Approved, Investigational Phase 4 174484-41-4 65027
12
Didanosine Approved Phase 4 69655-05-6 50599
13
Nevirapine Approved Phase 4 129618-40-2 4463
14
Indinavir Approved Phase 4 150378-17-9 5362440
15
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
16
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
17
Metformin Approved Phase 4 657-24-9 4091 14219
18
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
19
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
20
Pravastatin Approved Phase 4 81093-37-0 54687
21
Insulin glulisine Approved Phase 4 207748-29-6
22
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
23
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
24
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
25
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
26 Cytochrome P-450 CYP3A Inhibitors Phase 4
27 Cytochrome P-450 Enzyme Inhibitors Phase 4
28 Atazanavir Sulfate Phase 4
29 Cytochrome P-450 CYP3A Inducers Phase 4
30 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
31 Cytochrome P-450 Enzyme Inducers Phase 4
32 Cytochrome P-450 CYP2C19 Inhibitors Phase 4
33 Anti-Bacterial Agents Phase 4
34 Antibiotics, Antitubercular Phase 4
35 Antitubercular Agents Phase 4
36 HIV Fusion Inhibitors Phase 4
37 Micronutrients Phase 4
38 Trace Elements Phase 4
39 Vitamins Phase 4
40 Vitamin B9 Phase 4
41 Folate Phase 4
42 Vitamin B Complex Phase 4
43 Nutrients Phase 4
44 Lamivudine, zidovudine drug combination Phase 4
45 Vitamin B2 Phase 4
46 Thiamin Phase 4
47 Dermatologic Agents Phase 4
48 Photosensitizing Agents Phase 4
49 Omega 3 Fatty Acid Phase 4
50 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4

Interventional clinical trials:

(show top 50) (show all 212)
# Name Status NCT ID Phase Drugs
1 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in Patients With HIV. Influence on Morphological and Metabolic Disorders. A Randomized, Open-Label Multicenter Trial. Unknown status NCT00135460 Phase 4 nucleoside analogue sparing HAART regimen
2 An Open-Label, Multicenter Study to Evaluate the Efficacy and Safety of a Fixed-Dose Combination of Abacavir 600 mg/Lamivudine 300 mg Once-Daily in Combination With Atazanavir 300 mg + Ritonavir 100 mg Once-Daily in Antiretroviral-Naïve HIV-1 Infected Subjects With Continuing Evaluation of Abacavir/Lamivudine Plus Atazanavir 400 mg for Maintenance Over an Additional 48 Weeks Unknown status NCT00426296 Phase 4 atazanavir (Reyataz);ritonavir (Norvir)
3 MEDICLAS Study (Metabolic Effects of Different Classes of AntiretroviralS) Unknown status NCT00122226 Phase 4 Lopinavir/ritonavir + zidovudine + lamivudine;Lopinavir/ritonavir + nevirapine
4 A Phase IV, Open-Label, Randomized, Multicenter Trial Assessing a Reyataz-Based Substitution Approach in the Management of Lipodystrophy Syndrome. Research Into Atazanavir in Lipodystrophy (The REAL Study) Completed NCT00135356 Phase 4 Atazanavir (ATV) + ritonavir (RTV), continuation of backbone 2 nucleoside reverse transcriptase inhibitor (NRTIs);continuation of current HAART (boosted protease inhibitor [PI] combination + 2 NRTIs)
5 Mecahnisms of Lipodystrophy in HIV-Infected Patients Completed NCT00457665 Phase 4 Nelfinavir;Efavirenz
6 The Study of Mechanisms of Lipodystrophy in HIV-Infected Patients Completed NCT00006190 Phase 4 Nelfinavir mesylate;Stavudine;Lamivudine;Efavirenz
7 Switching From Zidovudine to an NNRTI or Lopinavir/Ritonavir in Patients Treated With Zidovudine/ Lamivudine/Abacavir. Influence on Metabolic Abnormalities Completed NCT00139178 Phase 4 Different HAART regimens
8 Analysis of Lipodystrophy in HIV-Infected Individuals A Prospective, Non-randomised, 48 Week Study of the Effect of PI Containing and Non-PI Containing Antiretroviral Regimens on the Expression of Adipocyte Specific Genes, Protein Levels and Cellular Structure in HIV-infected Individuals, Naive to Therapy, Who Are Starting Therapy for the First Time Completed NCT00192660 Phase 4 Lamivudine;Stavudine;Didanosine;Zidovudine;Tenofovir;Abacavir;Efavirenz (EFV);Nevirapine;Indinavir;Saquinavir;Amprenavir;Ritonavir;Nelfinavir;Tipranavir;enfuvirtide (T20)
9 Comparison of Strategies of Interruption/Reinitiation of Antiretroviral Therapy in Response to Immunologic/Virologic Changes in HIV-Infected Patients With Lipodystrophy. Completed NCT00646984 Phase 4 Standard continuous antiretroviral therapy;CD-4 guided therapy interruption;Viral load driven treatment interruption
10 Glaxo Wellcome Trial to Assess the Regression of Hyperlactatemia and to Evaluate the Regression of Established Lipodystrophy in HIV-1-Positive Subjects (TARHEEL) Completed NCT00005764 Phase 4 Lamivudine/Zidovudine;Abacavir sulfate;Lamivudine
11 A 3 Arm, Prospective Study to Compare the Effect of 6 Weeks Exposure to the Combination of Lopinavir (LPVr)/Combivir® (AZT/3TC) Versus Lopinavir Alone or Combivir® Alone in HIV-negative Healthy Subjects on the Development of Abnormalities of Lipid and Glucose Metabolism Completed NCT00192621 Phase 4 Combivir (zidovudine [AZT] / lamivudine [3TC]);Kaletra (lopinavir [LPVr])
12 Metabolic Abnormalities in HIV-infected Persons Completed NCT01612858 Phase 4 Metformin;Pioglitazone
13 An Open-Label Registry Study of the Facial Lipoatrophy Correction Experience With SCULPTRA® in Subjects With Human Immunodeficiency Virus (FACES Study) Completed NCT00360932 Phase 4
14 The Effect of Low-Dose Human Growth Hormone Therapy in HIV Infected Patients on Highly Active Antiretroviral Therapy (HAART) Completed NCT00119769 Phase 4 Placebo;Genotropin (human recombinant Growth hormone)
15 CT to Assess the Effect on the Subcutaneous Fat of Change of EFV for LPV/r in HIV-infected Patients Who Developed Lipoatrophy and Remains Despite Treatment With Efavirenz and Fixed-dose Combination of no Thymidine Nucleoside Analogues. Completed NCT00978237 Phase 4 EFV;LPV/r
16 A Randomized Comparative Clinical Trial of ZDV + 3TC + ABC (Trizivir) vs Monotherapy With Lopinavir/R (Kaletra) in Patients With Viral Suppression on Previous Treatment With ZDV + 3TC + ABC (Trizivir) for Preventing Lipoatrophy Completed NCT00865475 Phase 4 AZT+3TC+ABV (Trizivir);Switching to LPV/r monotherapy (Kaletra)
17 A Randomised, Double-Blind Study of Pravastatin for the Treatment of Hyperlipidaemia in Patients With HIV Completed NCT00227500 Phase 4 Pravastatin
18 A 96-Week, Randomized, Open-Label, Multicenter Trial to Evaluate the Safety and Tolerability of the Antiretroviral Activity of Stavudine (40mg BID) Plus Lamivudine (150mg BID) Plus Nelfinavir (1250mg BID) Versus Abacavir (300mg BID) Plus Combivir (3TC 150mg/ZDV 300mg BID) Versus Combivir (3TC 150mg/ZDV 300mg BID) Plus Nelfinavir (1250mg BID) in HIV-1 Infected Subjects Completed NCT00005106 Phase 4 Lamivudine/Zidovudine;Abacavir sulfate;Nelfinavir mesylate;Lamivudine;Stavudine
19 Lactic Acid Metabolism in HIV-Infected Persons. Predicting Abnormalities in Lactate Production and Clearance Related to Treatment and Liver Disease and Measuring the Impact of Vitamin Supplementation. Completed NCT00202228 Phase 4 cofactor supplementation (thiamine, riboflavin, L-carnitine)
20 Lipoatrophy in Children, Adolescents and Adults With Modern Treatment Modalities: is There a Beneficial Effect of Insulin Glulisine? Completed NCT02914886 Phase 4 Apidra;current insulin
21 Omacor; Omega-3-Acid Ethyl Ester 90 (n-3 PUFA) and Risk Factors in HIV Infected Patients Treated With HAART, With Special Focus on Lipids Completed NCT00296153 Phase 4 Omega-3-acid ethyl esters 90
22 A Phase IV-III Comparative, Randomized, Open-label Study to Evaluate the Efficacy for the Recovery of Peripheral Fat (or of the Extremities) of Lopinavir/Ritonavir in Monotherapy Versus Abacavir/Lamivudine and Lopinavir/Ritonavir Completed NCT00865007 Phase 4 Monotherapy (Lopinavir/ritonavir);Monotherapy (Lopinavir/ritonavir) + ABC/3TC
23 Yoga for the Management of HIV-Metabolic Syndromes Completed NCT00627380 Phase 4
24 Clinical Pilot Trial to Evaluate the Influence of Nevirapine in Exposure to Atazanavir in Steady State Equilibrium in HIV-Infected Adult Patients. Completed NCT00355719 Phase 4 Atazanavir (Reyataz);Ritonavir (Norvir);Nevirapine (Viramune)
25 Pilot Phase IV, Multicenter, Randomized, Open-label and Controlled Study to Assess the Evolution of Peripheral Body Fat Distribution After Switching From Zidovudine Containing Backbone to Truvada in HIV-1-infected Patients on HAART (RECOMB Study). Completed NCT00324649 Phase 4 Truvada;Zidovudine/lamivudine
26 A Randomized, Controlled, Open-Label, 48-Week Study of Continuing Successfully Suppressive Treatment in HIV-1 Infected Adults With First-Line Twice-Daily Zidovudine and Lamivudine-Based Regimens Versus Pro-actively Replacing of Zidovudine and Lamivudine by Once-Daily Emtricitabine and Tenofovir Disoproxil Fumarate to Prevent Progression of or Reverse Peripheral Lipoatrophy. Completed NCT00389194 Phase 4 continuing AZT+3TC or switching AZT+3TC to TDF+ FTC
27 Exploratory, Cross-sectional Study to Compare the Virologic Efficacy in Cerebrospinal Fluid (CSF) and Neurocognitive State in Patients Infected by HIV-1 Long-term Treatment (> 3 Years) With Lopinavir / Ritonavir Monotherapy Completed NCT01116817 Phase 4
28 A Randomised, Controlled, Open-Label, 48-Week, Study To Asses Differences in Changes In Plasma Lipid Profile Between Patients On Saquinavir/Ritonavir Or Atazanavir/Ritonavir In Combination With Tenofovir Disoproxil Fumarate And Emtricitabine As A First-line Regimen. Completed NCT00389402 Phase 4 saquinavir/ritonavir;atazanavir/ritonavir
29 A Randomised, Open-label, 96-week Study Comparing the Safety and Efficacy of Three Different Combination Antiretroviral Regimens as Initial Therapy for HIV Infection. Completed NCT00335322 Phase 4 Truvada (fixed dose combination of tenofovir + emtricitabine) + Stocrin (efavirenz);Truvada (fixed dose combination of tenofovir + emtricitabine)+ ritonavir/atazanavir (r/ATV);Truvada (fixed dose combination of tenofovir + emtricitabine) + zidovudine (ZDV) + abacavir (ABC)
30 A 36-Month, Multicenter, Open Label Phase 4 Study to Evaluate the Immunogenicity of Daily SC Metreleptin Treatment in Patients With Generalized Lipodystrophy Recruiting NCT04026178 Phase 4 Metreleptin
31 Body Composition and Adipose Tissue in HIV Lipodystrophy: Effects of Tesamorelin Therapy Recruiting NCT03226821 Phase 4 Tesamorelin
32 A Randomized Prospective Study Evaluating the Impact on Fat Distribution of NRTI-Sparing Regimens in Antiretroviral Experienced Patients With Lipoatrophy ANRS 108 NONUKE Study Terminated NCT00122655 Phase 4 non-nucleoside reverse transcriptase inhibitors;nucleoside reverse transcriptase inhibitors;protease inhibitors
33 A Multi-Centre, Open-Label, Randomised Study to Assess the Efficacy, Durability and Safety of Immediate Versus Deferred Injections of Poly-L-Lactic Acid for HIV Facial Lipoatrophy (FLASH) Terminated NCT00126308 Phase 4
34 Randomized Comparative Study Evaluating the Rate of Occurrence of a Lipoatrophy Syndrome in ARVnaive HIV-1 Infected Patients Receiving NRTI-Sparing Antiretroviral Regimen (Hippocampe - ANRS 121) Terminated NCT00122668 Phase 4 non-nucleoside reverse transcriptase inhibitors;nucleoside reverse transcriptase inhibitors;protease inhibitor
35 A Phase IV, Prospective, Non-Blinded, Non-Randomized, Single-Center Clinical Trial to Determine the Longevity, Duration, and Volume-Correcting Efficacy of Sculptra™ Dermal Filler for the Correction of Contour Deformities Caused by Lipoatrophy Withdrawn NCT00360139 Phase 4
36 Effects of an Exercise Program on Metabolic Parameters of Patients With a HIV Infection. Unknown status NCT00910936 Phase 2, Phase 3
37 A Phase III, Randomised, Multicenter, Parallel, Open-Label Study to Compare the Efficacy, Safety, and Tolerability of GW433908 (1400 Mg Bid) and Nelfinavir (1250 Mg Bid) Over 48 Weeks in Antiretroviral Therapy Naive HIV-1 Infected Adults Unknown status NCT00008554 Phase 3 Abacavir sulfate;Nelfinavir mesylate;Lamivudine;GW433908
38 Double-Blind, Placebo-Controlled Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
39 A Multicenter, Double-blind, Randomized, Placebo-controlled Extension Study Assessing the Efficacy and Long-term Safety of a 2 mg Dose of TH9507, a Growth Hormone Releasing Factor Analog, in HIV Subjects With Excess Abdominal Fat Accumulation Completed NCT00608023 Phase 3 Tesamorelin;Placebo for Tesamorelin
40 A Phase III, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study of the Safety and Efficacy of Serostim®, r-hGH in the Treatment and Maintenance of Human Immunodeficiency HIV-Associated Adipose Redistribution Syndrome, or HARS Completed NCT00082628 Phase 3 Placebo;Serostim® 4 mg;Serostim® 2 mg
41 A Phase 3 Multicenter, Double-Blind, Randomized, Placebo-Controlled Study Assessing the Efficacy and Safety of a 2 mg Dose of TH9507, a Growth Hormone Releasing Factor Analog, in HIV Patients With Excess of Abdominal Fat Accumulation Completed NCT00123253 Phase 3 TH9507
42 Randomized, Comparative, Multicenter, Patient-blinded Trial of the Safety and Efficacy of Intradermal Injections of Polylactic Acid (Newfill TM) Versus Polyacrylamid Gel (Eutrophill) in the Treatment of Facial Lipoatrophy in HIV-infected Patients ANRS 132 SMILE Completed NCT00383734 Phase 3
43 Open Label, Multicenter, Single Arm Trial of the Safety and Efficacy of Polyacrylamide Hydrogel Injection in the Management of Human Immunodeficiency Virus-Related Facial Lipoatrophy : THE LIPOPHILL TRIAL Completed NCT01077765 Phase 3
44 Clinical and Instrumental Evaluation of the Activity of a Pharmacological "Anticellulitis" Product vs. a Reference Product on the Market: Comparison Within Subjects (Double Blind Study) Completed NCT02195297 Phase 3
45 Evaluation of Immune Reconstitution in HIV Infected Patients Treated With Fortovase (Saquinavir) SGC QD Plus Ritonavir QD Plus 2 NRTIs Vs Efavirenz QD Plus 2 NRTIs Completed NCT00002448 Phase 3 Ritonavir;Efavirenz;Saquinavir
46 Randomized, Open Label Study Evaluating the Lipid Profile Difference and Efficacy of a Combined Therapy Including Tenofovir, Emtricitabine + Atazanavir / r or NVP in Naive HIV - 1 Infected Patients. Completed NCT00389207 Phase 3 nevirapine bid;nevirapine qd;atazanavir
47 Effect of Omega 3 Fatty Acids on Oxidative Stress in Seropositive HIV Patients Completed NCT02041520 Phase 3 omega 3 fatty acids
48 Strategic, Long Term, Immunologically Driven Treatment Interruptions in Patients on Effective HAART: A Controlled, Randomized Study Completed NCT00433056 Phase 3 stable HAART
49 A Phase II/III, Randomized, Double-Blind, Placebo-Controlled Trial of Uridine Supplementation in HIV Lipoatrophy Completed NCT00307164 Phase 2, Phase 3 NucleomaxX;NucleomaxX placebo
50 Strategic Long Term, Immunologically Driven Treatment Interruptions in Patients on Effective HAART: a Controlled, Randomized Study Completed NCT00310245 Phase 3

Search NIH Clinical Center for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome

Inferred drug relations via UMLS 72 / NDF-RT 51 :


metreleptin
Tesamorelin

Cochrane evidence based reviews: lipodystrophy

Genetic Tests for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Genetic tests related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

# Genetic test Affiliating Genes
1 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 29 POLD1

Anatomical Context for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

MalaCards organs/tissues related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

41
Skin, Liver, Eye, Breast, Adipocyte, Skeletal Muscle, Bone

Publications for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Articles related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

(show top 50) (show all 256)
# Title Authors PMID Year
1
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 8 71
23770608 2013
2
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. 8
20631028 2010
3
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 38
30388038 2018
4
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. 38
29199204 2018
5
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. 38
30023403 2018
6
Atezolizumab: feasible second-line therapy for patients with non-small cell lung cancer? A review of efficacy, safety and place in therapy. 38
29449897 2017
7
Applicability and efficacy of diatom indices in water quality evaluation of the Chambal River in Central India. 38
28940082 2017
8
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). 38
28521875 2017
9
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection. 38
28791128 2017
10
Cytotoxic effects of new MTA-based cement formulations on fibroblast-like MDPL-20 cells. 38
26981755 2016
11
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies. 38
26350127 2015
12
Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome. 38
25131834 2014
13
Reliability and the smallest detectable difference of measurements on 3-dimensional cone-beam computed tomography images. 38
21889058 2011
14
Lipodystrophy, lipid profile changes, and low serum retinol and carotenoid levels in children and adolescents with acquired immunodeficiency syndrome. 9
20116215 2010
15
What have we learned form monogenic forms of severe insulin resistance associated with PCOS/HAIRAN? 9
20362964 2010
16
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 9
19882644 2010
17
Identification of proteasome gene regulation in a rat model for HIV protease inhibitor-induced hyperlipidemia. 9
20213465 2010
18
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 9
20145110 2010
19
Clinical classification and treatment of congenital and acquired lipodystrophy. 9
20061300 2010
20
Lipoatrophy associated with the use of insulin analogues: a new case associated with the use of insulin glargine and review of the literature. 9
20001763 2010
21
Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency. 9
20097706 2010
22
Potential role of IL-18 in the immunopathogenesis of AIDS, HIV-associated lipodystrophy and related clinical conditions. 9
19954415 2010
23
Rationale for leptin-replacement therapy for severe lipodystrophy. 9
20061299 2010
24
HIV protease inhibitors inhibit FACE1/ZMPSTE24: a mechanism for acquired lipodystrophy in patients on highly active antiretroviral therapy? 9
20074077 2010
25
Efficacy of leptin therapy in the different forms of human lipodystrophy. 9
19727665 2010
26
Endothelial function is impaired in HIV-infected patients with lipodystrophy. 9
20167996 2010
27
Leptin therapy in lipodystrophy. 9
19802712 2010
28
Narrative review: the role of leptin in human physiology: emerging clinical applications. 9
20083828 2010
29
Interleukin 18 and cardiovascular disease in HIV-1 infection: a partner in crime? 9
20216908 2010
30
Adiponectin and leptin levels in Chinese patients with HIV-related lipodystrophy: a 30-month prospective study. 9
20001516 2009
31
Mouse models of inherited lipodystrophy. 9
19892886 2009
32
Leptin deficiency: clinical implications and opportunities for therapeutic interventions. 9
19730134 2009
33
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. 9
19574402 2009
34
PPARgamma Pro12Ala polymorphism in HIV-1-infected patients with HAART-related lipodystrophy. 9
19534662 2009
35
Inherited lipodystrophies and hypertriglyceridemia. 9
19494770 2009
36
Lipodystrophy in children and adolescents with acquired immunodeficiency syndrome and its relationship with the antiretroviral therapy employed. 9
19668909 2009
37
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. 9
19278620 2009
38
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 9
19201734 2009
39
Defective peroxisomal proliferators activated receptor gamma activity due to dominant-negative mutation synergizes with hypertension to accelerate cardiac fibrosis in mice. 9
19395708 2009
40
Whither recombinant human leptin treatment for HIV-associated lipoatrophy and the metabolic syndrome? 9
19349474 2009
41
The effects of recombinant human leptin on visceral fat, dyslipidemia, and insulin resistance in patients with human immunodeficiency virus-associated lipoatrophy and hypoleptinemia. 9
19174500 2009
42
Leptin in humans: lessons from translational research. 9
19176740 2009
43
Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome. 9
19270485 2009
44
Relationship between polymerase gamma (POLG) polymorphisms and antiretroviral therapy-induced lipodystrophy in HIV-1 infected patients: a case-control study. 9
19275594 2009
45
Low prevalence of insulin resistance among HIV-infected children receiving nonnucleoside reverse transcriptase inhibitor-based highly active antiretroviral therapy in Thailand. 9
19018877 2009
46
r-metHuLeptin improves highly active antiretroviral therapy-induced lipoatrophy and the metabolic syndrome, but not through altering circulating IGF and IGF-binding protein levels: observational and interventional studies in humans. 9
19029226 2009
47
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 9
19283854 2009
48
Is PPARγ a prospective player in HIV-1-associated bone disease? 9
19325916 2009
49
Lipoatrophic diabetes: a case report with a brief review of the literature. 9
19101466 2009
50
Antiretroviral-related adipocyte dysfunction and lipodystrophy in HIV-infected patients: Alteration of the PPARγ-dependent pathways. 9
19125203 2009

Variations for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

ClinVar genetic disease variations for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome:

6 (show all 33)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POLD1 NM_001256849.1(POLD1): c.1809_1811CTC[1] (p.Ser605del) short repeat Pathogenic rs398122386 19:50912078-50912080 19:50408821-50408823
2 LMNA NM_005572.3(LMNA): c.29C> T (p.Thr10Ile) single nucleotide variant Pathogenic/Likely pathogenic rs57077886 1:156084738-156084738 1:156114947-156114947
3 LMNA NM_005572.3(LMNA): c.898G> A (p.Asp300Asn) single nucleotide variant Likely pathogenic rs267607591 1:156105065-156105065 1:156135274-156135274
4 POLD1 NM_001256849.1(POLD1): c.496C> T (p.Arg166Trp) single nucleotide variant Uncertain significance rs376236497 19:50905288-50905288 19:50402031-50402031
5 POLD1 NM_001256849.1(POLD1): c.961G> A (p.Gly321Ser) single nucleotide variant Uncertain significance rs41554817 19:50905989-50905989 19:50402732-50402732
6 POLD1 NM_001256849.1(POLD1): c.208G> T (p.Val70Phe) single nucleotide variant Uncertain significance rs147911699 19:50902633-50902633 19:50399376-50399376
7 POLD1 NM_001256849.1(POLD1): c.203G> A (p.Gly68Glu) single nucleotide variant Uncertain significance rs144707871 19:50902628-50902628 19:50399371-50399371
8 POLD1 NM_001256849.1(POLD1): c.245C> T (p.Pro82Leu) single nucleotide variant Uncertain significance rs201006221 19:50902670-50902670 19:50399413-50399413
9 POLD1 NM_001256849.1(POLD1): c.353C> T (p.Ser118Phe) single nucleotide variant Uncertain significance rs780604625 19:50905071-50905071 19:50401814-50401814
10 POLD1 NM_001256849.1(POLD1): c.866A> G (p.Asp289Gly) single nucleotide variant Uncertain significance rs878854558 19:50905894-50905894 19:50402637-50402637
11 POLD1 NM_001256849.1(POLD1): c.1157G> A (p.Arg386His) single nucleotide variant Uncertain significance rs764023083 19:50906769-50906769 19:50403512-50403512
12 POLD1 NM_001256849.1(POLD1): c.1322C> T (p.Thr441Met) single nucleotide variant Uncertain significance rs376711125 19:50909518-50909518 19:50406261-50406261
13 POLD1 NM_001256849.1(POLD1): c.2290G> A (p.Gly764Ser) single nucleotide variant Uncertain significance rs148838746 19:50917038-50917038 19:50413781-50413781
14 POLD1 NM_001256849.1(POLD1): c.2861C> G (p.Thr954Arg) single nucleotide variant Uncertain significance rs374016016 19:50919693-50919693 19:50416436-50416436
15 POLD1 NM_001256849.1(POLD1): c.713C> T (p.Thr238Met) single nucleotide variant Uncertain significance rs553342844 19:50905585-50905585 19:50402328-50402328
16 POLD1 NM_001256849.1(POLD1): c.2197C> G (p.Gln733Glu) single nucleotide variant Uncertain significance 19:50916725-50916725 19:50413468-50413468
17 POLD1 NM_001256849.1(POLD1): c.652C> T (p.Arg218Cys) single nucleotide variant Uncertain significance 19:50905524-50905524 19:50402267-50402267
18 POLD1 NM_001256849.1(POLD1): c.34G> A (p.Gly12Arg) single nucleotide variant Uncertain significance rs772197667 19:50902142-50902142 19:50398885-50398885
19 POLD1 NM_001256849.1(POLD1): c.1363G> A (p.Val455Met) single nucleotide variant Uncertain significance rs762670703 19:50909559-50909559 19:50406302-50406302
20 POLD1 NM_001256849.1(POLD1): c.1930G> A (p.Asp644Asn) single nucleotide variant Uncertain significance rs763465385 19:50912416-50912416 19:50409159-50409159
21 POLD1 NM_001256849.1(POLD1): c.2467C> T (p.Arg823Cys) single nucleotide variant Uncertain significance rs376946722 19:50918150-50918150 19:50414893-50414893
22 POLD1 NM_001256849.1(POLD1): c.3298G> A (p.Gly1100Arg) single nucleotide variant Uncertain significance rs1060501837 19:50921178-50921178 19:50417921-50417921
23 POLD1 NM_001256849.1(POLD1): c.223A> G (p.Ile75Val) single nucleotide variant Uncertain significance rs940296193 19:50902648-50902648 19:50399391-50399391
24 POLD1 NM_001256849.1(POLD1): c.301A> T (p.Ile101Phe) single nucleotide variant Uncertain significance rs140858857 19:50902726-50902726 19:50399469-50399469
25 POLD1 NM_001256849.1(POLD1): c.343C> T (p.Pro115Ser) single nucleotide variant Uncertain significance rs754917939 19:50905061-50905061 19:50401804-50401804
26 POLD1 NM_001256849.1(POLD1): c.1294C> G (p.Arg432Gly) single nucleotide variant Uncertain significance rs774130423 19:50909490-50909490 19:50406233-50406233
27 POLD1 NM_001256849.1(POLD1): c.2563C> T (p.Arg855Ter) single nucleotide variant Uncertain significance rs768048535 19:50918246-50918246 19:50414989-50414989
28 POLD1 NM_001256849.1(POLD1): c.3167C> T (p.Thr1056Met) single nucleotide variant Uncertain significance rs772397517 19:50920475-50920475 19:50417218-50417218
29 POLD1 NM_001256849.1(POLD1): c.1717G> T (p.Val573Leu) single nucleotide variant Uncertain significance rs760616076 19:50910614-50910614 19:50407357-50407357
30 POLD1 NM_001256849.1(POLD1): c.2760C> G (p.Asp920Glu) single nucleotide variant Uncertain significance rs1057521209 19:50919023-50919023 19:50415766-50415766
31 POLD1 NM_001256849.1(POLD1): c.1867C> T (p.Arg623Trp) single nucleotide variant Uncertain significance rs768773535 19:50912133-50912133 19:50408876-50408876
32 POLD1 NM_001256849.1(POLD1): c.1516C> T (p.Arg506Cys) single nucleotide variant Uncertain significance rs528292347 19:50910261-50910261 19:50407004-50407004
33 POLD1 NM_001256849.1(POLD1): c.1291A> G (p.Ile431Val) single nucleotide variant Uncertain significance rs752444746 19:50909487-50909487 19:50406230-50406230

Expression for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Search GEO for disease gene expression data for Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome.

Pathways for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

GO Terms for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

Cellular components related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.46 ZMPSTE24 LPIN1 BSCL2 AGPAT2
2 endoplasmic reticulum GO:0005783 9.35 ZMPSTE24 LPIN1 BSCL2 AGPAT2 ADIPOQ
3 nuclear envelope GO:0005635 8.8 ZMPSTE24 LPIN1 LMNA

Biological processes related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.81 LPIN1 LEP BSCL2 AGPAT2
2 response to nutrient levels GO:0031667 9.58 LEP ADIPOQ
3 fatty acid beta-oxidation GO:0006635 9.58 LEP ADIPOQ
4 response to activity GO:0014823 9.57 LEP ADIPOQ
5 positive regulation of glucose import GO:0046326 9.56 INS ADIPOQ
6 nucleus organization GO:0006997 9.55 ZMPSTE24 LMNA
7 positive regulation of cytokine production GO:0001819 9.54 LEP AGPAT2
8 regulation of glucose metabolic process GO:0010906 9.52 ZMPSTE24 ADIPOQ
9 nuclear envelope organization GO:0006998 9.49 ZMPSTE24 LMNA
10 positive regulation of insulin receptor signaling pathway GO:0046628 9.48 LEP INS
11 positive regulation of cellular protein metabolic process GO:0032270 9.46 INS ADIPOQ
12 negative regulation of lipid catabolic process GO:0050995 9.43 INS BSCL2
13 glucose homeostasis GO:0042593 9.43 LEP INS ADIPOQ
14 fatty acid homeostasis GO:0055089 9.4 POLD1 INS
15 fatty acid catabolic process GO:0009062 9.37 LPIN1 LEP
16 negative regulation of gluconeogenesis GO:0045721 9.32 INS ADIPOQ
17 regulation of protein localization to nucleus GO:1900180 9.16 LMNA LEP
18 glucose metabolic process GO:0006006 9.13 LEP INS ADIPOQ
19 positive regulation of cold-induced thermogenesis GO:0120162 8.92 LPIN1 LEP BSCL2 ADIPOQ

Molecular functions related to Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 LEP INS ADIPOQ

Sources for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

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