MDPL
MCID: MND021
MIFTS: 66

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 20 73 29 6
Lipodystrophy 44 39 17 71
Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome 20 58
Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome 20 58
Mdpl Syndrome 20 58
Mdp Syndrome 20 58
Mdpl 57 73
Hypoplasia, Mandibular, Deafness, Progeroid Features, and Lipodystrophy Syndrome 39
Andibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 71
Mandibular Hypoplasia, Deafness, Progeroid Features 20
Mandibular Hypoplasia-Deafness-Progeroid Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

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


HPO:

31
mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


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

GARD : 20 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 lipodystrophy, congenital generalized, type 4 and proteasome-associated autoinflammatory syndrome 1, 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 Efavirenz have been mentioned in the context of this disorder. Affiliated tissues include liver, adipocyte and bone, and related phenotypes are scoliosis and kyphosis

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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 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 : 74 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 572)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 4 32.9 BSCL2 AGPAT2
2 proteasome-associated autoinflammatory syndrome 1 32.6 PPARG INS ADIPOQ
3 lipodystrophy, familial partial, type 1 32.6 LMNA BSCL2 AGPAT2
4 mandibuloacral dysplasia with type a lipodystrophy 32.5 ZMPSTE24 LMNA
5 lipodystrophy, congenital generalized, type 3 32.3 LPIN1 BSCL2 AGPAT2
6 lipodystrophy, familial partial, type 3 32.3 PPARG LMNA BSCL2 AGPAT2
7 lipodystrophy, congenital generalized, type 1 31.9 LPIN1 LEP BSCL2 AGPAT2
8 lipodystrophy, familial partial, type 5 31.8 ZMPSTE24 LMNA BSCL2 AGPAT2
9 berardinelli-seip congenital lipodystrophy 31.7 LEP BSCL2 AGPAT2
10 lipodystrophy, congenital generalized, type 2 31.4 PPARG LPIN1 LMNA LEP BSCL2 AGPAT2
11 familial partial lipodystrophy 31.3 PPARG LMNA LEP INS BSCL2 AGPAT2
12 acquired generalized lipodystrophy 31.1 ZMPSTE24 LMNA LEP BSCL2 AGPAT2 ADIPOQ
13 lipodystrophy, familial partial, type 2 30.6 ZMPSTE24 PPARG LMNA LEP INS BSCL2
14 skin atrophy 30.4 ZMPSTE24 LMNA
15 non-alcoholic steatohepatitis 30.3 PPARG INS ADIPOQ
16 fatty liver disease 30.3 PPARG LEP INS ADIPOQ
17 congenital generalized lipodystrophy 30.3 ZMPSTE24 PPARG LPIN1 LMNA LEP INS
18 hypertriglyceridemia, familial 30.3 INS BSCL2
19 hyperandrogenism 30.2 PPARG INS ADIPOQ
20 hyperinsulinism 30.2 PPARG LEP INS ADIPOQ
21 hutchinson-gilford progeria syndrome 30.2 ZMPSTE24 LMNA ADIPOQ
22 acanthosis nigricans 30.1 PPARG LMNA LEP INS ADIPOQ
23 laminopathy 30.0 ZMPSTE24 LMNA
24 hyperglycemia 30.0 PPARG LEP INS ADIPOQ
25 acroosteolysis 29.9 ZMPSTE24 LMNA
26 polycystic ovary syndrome 29.9 PPARG LEP INS ADIPOQ
27 lipid metabolism disorder 29.8 PPARG LMNA LEP INS ADIPOQ
28 emery-dreifuss muscular dystrophy 3, autosomal recessive 29.8 ZMPSTE24 LMNA
29 monogenic diabetes 29.8 LMNA INS BSCL2
30 acromegaly 29.8 LEP INS ADIPOQ
31 glucose intolerance 29.8 PPARG LMNA LEP INS ADIPOQ
32 peripheral nervous system disease 29.7 PPARG POLG LMNA INS
33 sleep apnea 29.7 LEP INS ADIPOQ
34 familial hyperlipidemia 29.7 PPARG LEP INS ADIPOQ
35 coronary heart disease 1 29.7 INS ADIPOQ
36 vascular disease 29.6 PPARG LEP INS ADIPOQ
37 atherosclerosis susceptibility 29.6 PPARG LEP INS ADIPOQ
38 hyperuricemia 29.5 PPARG LEP INS
39 neuropathy 29.5 POLG LMNA INS BSCL2
40 ovarian disease 29.4 PPARG LEP INS ADIPOQ
41 liver disease 29.4 POLG LEP INS ADIPOQ
42 end stage renal disease 29.4 LEP INS ADIPOQ
43 complete generalized lipodystrophy 29.4 ZMPSTE24 PPARG LPIN1 LMNA LEP INS
44 kidney disease 29.4 PPARG LEP INS ADIPOQ
45 restrictive dermopathy, lethal 29.3 ZMPSTE24 LMNA
46 liver cirrhosis 29.3 PPARG LEP INS ADIPOQ
47 abdominal obesity-metabolic syndrome 1 29.3 PPARG LEP INS ADIPOQ
48 arteriosclerosis 29.3 PPARG INS ADIPOQ
49 non-alcoholic fatty liver disease 29.3 PPARG LEP INS ADIPOQ
50 cardiovascular system disease 29.3 PPARG LEP INS ADIPOQ

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:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 diabetes mellitus 31 HP:0000819
4 hepatomegaly 31 HP:0002240
5 sensorineural hearing impairment 31 HP:0000407
6 flexion contracture 31 HP:0001371
7 hypertriglyceridemia 31 HP:0002155
8 cryptorchidism 31 HP:0000028
9 osteoporosis 31 HP:0000939
10 micrognathia 31 HP:0000347
11 hepatic steatosis 31 HP:0001397
12 elevated hepatic transaminase 31 HP:0002910
13 lipodystrophy 31 HP:0009125
14 dental crowding 31 HP:0000678
15 narrow mouth 31 HP:0000160
16 proptosis 31 HP:0000520
17 convex nasal ridge 31 HP:0000444
18 high pitched voice 31 HP:0001620
19 lack of skin elasticity 31 HP:0100679
20 hypogonadism 31 HP:0000135
21 insulin resistance 31 HP:0000855
22 telangiectasia 31 HP:0001009
23 dermal atrophy 31 HP:0004334
24 scleroderma 31 HP:0100324

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
kyphosis

Abdomen Liver:
hepatomegaly
hepatic steatosis

Genitourinary Internal Genitalia Male:
cryptorchidism

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)

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

Laboratory Abnormalities:
hypertriglyceridemia
abnormal liver function tests

Skeletal:
osteoporosis
joint contractures

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 (Updated 05-Mar-2021)

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 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.29 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
2 endocrine/exocrine gland MP:0005379 10.29 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
3 cardiovascular system MP:0005385 10.27 ADIPOQ BSCL2 INS LEP LMNA LPIN1
4 cellular MP:0005384 10.27 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
5 behavior/neurological MP:0005386 10.24 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
6 growth/size/body region MP:0005378 10.24 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
7 hematopoietic system MP:0005397 10.22 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
8 integument MP:0010771 10.22 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
9 homeostasis/metabolism MP:0005376 10.21 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
10 immune system MP:0005387 10.19 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
11 mortality/aging MP:0010768 10.14 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
12 digestive/alimentary MP:0005381 10.1 AGPAT2 BSCL2 INS LEP LMNA POLG
13 liver/biliary system MP:0005370 10.09 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
14 muscle MP:0005369 10.02 ADIPOQ INS LEP LMNA LPIN1 POLD1
15 nervous system MP:0003631 9.91 ADIPOQ BSCL2 INS LEP LMNA LPIN1
16 limbs/digits/tail MP:0005371 9.85 AGPAT2 BSCL2 LEP LMNA ZMPSTE24
17 renal/urinary system MP:0005367 9.76 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
18 neoplasm MP:0002006 9.72 ADIPOQ LEP POLD1 POLG PPARG
19 reproductive system MP:0005389 9.5 BSCL2 INS LEP LMNA LPIN1 POLG
20 skeleton MP:0005390 9.32 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 136)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
3
Lopinavir Approved Phase 4 192725-17-0 92727
4
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
5
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
6
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
7
Didanosine Approved Phase 4 69655-05-6 50599
8
Amprenavir Approved, Investigational Phase 4 161814-49-9 65016
9
Tipranavir Approved, Investigational Phase 4 174484-41-4 65027
10
Indinavir Approved Phase 4 150378-17-9 5362440
11
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
12
Nevirapine Approved Phase 4 129618-40-2 4463
13
Nelfinavir Approved Phase 4 159989-64-7 64143
14
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
15
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
16
Metformin Approved Phase 4 657-24-9 14219 4091
17
Pravastatin Approved Phase 4 81093-37-0 54687
18
Insulin glulisine Approved Phase 4 207748-29-6
19
Zinc Approved, Investigational Phase 4 7440-66-6 32051
20
Tesamorelin Approved, Investigational Phase 4 218949-48-5
21
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
22
Zidovudine Approved Phase 4 30516-87-1 35370
23
Abacavir Approved, Investigational Phase 4 136470-78-5 65140 441300
24
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
25
Dolutegravir Approved Phase 4 1051375-16-6 54726191
26
Cobicistat Approved Phase 4 1004316-88-4
27
Rilpivirine Approved Phase 4 500287-72-9 6451164
28
Mannitol Approved, Investigational Phase 4 69-65-8 453 6251
29
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
30
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
31
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
32
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
33 Liver Extracts Phase 4
34 Hormone Antagonists Phase 4
35 Atazanavir Sulfate Phase 4
36 Antibiotics, Antitubercular Phase 4
37 Antitubercular Agents Phase 4
38 Anti-Bacterial Agents Phase 4
39 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
40 Hypolipidemic Agents Phase 4
41 Lipid Regulating Agents Phase 4
42 Micronutrients Phase 4
43 Nutrients Phase 4
44 Vitamin B Complex Phase 4
45 Trace Elements Phase 4
46 Vitamins Phase 4
47 Folate Phase 4
48 Vitamin B9 Phase 4
49 Anticholesteremic Agents Phase 4
50 carnitine Phase 4

Interventional clinical trials:

(show top 50) (show all 153)
# 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 MEDICLAS Study (Metabolic Effects of Different Classes of AntiretroviralS) Unknown status NCT00122226 Phase 4 Lopinavir/ritonavir + zidovudine + lamivudine;Lopinavir/ritonavir + nevirapine
3 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)
4 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)
5 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
6 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
7 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)
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 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
10 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
11 The Study of Mechanisms of Lipodystrophy in HIV-Infected Patients Completed NCT00006190 Phase 4 Nelfinavir mesylate;Stavudine;Lamivudine;Efavirenz
12 Mecahnisms of Lipodystrophy in HIV-Infected Patients Completed NCT00457665 Phase 4 Nelfinavir;Efavirenz
13 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
14 Metabolic Abnormalities in HIV-infected Persons Completed NCT01612858 Phase 4 Metformin;Pioglitazone
15 A Randomised, Double-Blind Study of Pravastatin for the Treatment of Hyperlipidaemia in Patients With HIV Completed NCT00227500 Phase 4 Pravastatin
16 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])
17 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)
18 Yoga for the Management of HIV-Metabolic Syndromes Completed NCT00627380 Phase 4
19 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
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 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
22 Contribution of the Integrase Inhibitor Dolutegravir to Obesity and Cardiovascular Disease in Persons Living With HIV Recruiting NCT04340388 Phase 4 Dolutegravir 50 MG;Antiretroviral/Anti HIV
23 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
24 Body Composition and Adipose Tissue in HIV Lipodystrophy: Effects of Tesamorelin Therapy Recruiting NCT03226821 Phase 4 Tesamorelin
25 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
26 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
27 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
28 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
29 Effects of an Exercise Program on Metabolic Parameters of Patients With a HIV Infection. Unknown status NCT00910936 Phase 2, Phase 3
30 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
31 Double-Blind, Placebo-Controlled Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
32 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
33 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
34 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
35 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
36 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
37 A Prospective, Multicenter, Randomized Trial Comparing the Efficacy and Safety of Fenofibrate Versus Pravastatin in HIV-Infected Subjects With Lipid Abnormalities Completed NCT00006412 Phase 3 Pravastatin sodium;Fenofibrate
38 Compassionate Use of Metreleptin in Previously-Treated Patients With Partial Lipodystrophy Recruiting NCT02262806 Phase 3 Metreleptin
39 Compassionate Use of Metreleptin in Previously-Treated Patients With Generalized Lipodystrophy Recruiting NCT02262832 Phase 3 Metreleptin
40 A Phase 2/3, Multicenter, Open-Label Study to Evaluate the Efficacy and Safety of Baricitinib in Adult and Pediatric Japanese Patients With NNS/CANDLE, SAVI, and AGS Recruiting NCT04517253 Phase 2, Phase 3 Baricitinib
41 A Multicenter, Open-label, Single-arm Study With Regard to the Efficacy and Safety of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance Recruiting NCT04018365 Phase 3 Empagliflozin Tablets
42 A Multicenter, Open-label, Single-arm, Extension Study With Regard to the Safety and Efficacy of Empagliflozin in Patients With Refractory Diabetes Mellitus With Insulin Resistance (EMPIRE-02) Recruiting NCT04221152 Phase 3 Empagliflozin Tablets
43 A Randomized, Double-Blind, Placebo-Controlled, With an Open Label Extension, Phase 2/3 Study of ISIS 304801 Administered Subcutaneously to Patients With Familial Partial Lipodystrophy Active, not recruiting NCT02527343 Phase 2, Phase 3 volanesorsen;Placebo
44 A Randomized, Phase 3, Double Blind, Multicentre Trial, Evaluating the Effect of Pioglitazone Versus Placebo on Change in Lipoatrophy in HIV- 1 Infected Patients Treated With Stable Antiretroviral Therapy for at Least 6 Months.ANRS 113 LIPIOT Study Terminated NCT00148850 Phase 3 Pioglitazone
45 Role of Leptin in Highly Active Antiretroviral Therapy (HAART)-Induced Lipodystrophy and Metabolic Syndrome in HAART-Treated HIV Patients Completed NCT00140244 Phase 2 r-metHuLeptin;Placebo
46 Phase II Study of Cholic Acid for Hepatic Steatosis in Lipodystrophy Patients Completed NCT00457639 Phase 2 Cholic Acid
47 Phase II Study of Raltegravir as Replacement for Protease Inhibitor or Non-Nucleoside Reverse Transcriptase Inhibitor (NNRTI) Based Antiretroviral Therapy in Women With Fat Accumulation Completed NCT00656175 Phase 2 raltegravir
48 A Phase II, Open-Label, Multicentre, Randomised, Comparator Study of Substitution With Tenofovir or Abacavir in HIV-1 Infected Individuals, With a Viral Load < 50 Copies/mL, Receiving a Thymidine Analogue (Zidovudine or Stavudine) as Part of Their Highly Active Antiretroviral Therapy (HAART) Completed NCT00647946 Phase 2 tenofovir DF;abacavir 300mg twice daily
49 An Open-label Phase 2 Study of ISIS 703802 (AKCEA-ANGPTL3-LRx) Administered Subcutaneously to Subjects With Familial Partial Lipodystrophy Completed NCT03514420 Phase 2 AKCEA-ANGPTL3-LRX
50 CLINICAL PROTOCOL to Investigate the Long-term Safety and Efficacy of Recombinant Human Leptin (METRELEPTIN) in Various Forms of Partial Lipodystrophy Completed NCT02654977 Phase 2 Metreleptin

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

Inferred drug relations via UMLS 71 / NDF-RT 51 :


metreleptin

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:

40
Liver, Adipocyte, Bone, Skeletal Muscle, Breast, Skin, Bone Marrow

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

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

(show top 50) (show all 4586)
# Title Authors PMID Year
1
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 6 57 61
23770608 2013
2
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. 57 61
20631028 2010
3
Lipodystrophy, lipid profile changes, and low serum retinol and carotenoid levels in children and adolescents with acquired immunodeficiency syndrome. 61 54
20116215 2010
4
What have we learned form monogenic forms of severe insulin resistance associated with PCOS/HAIRAN? 61 54
20362964 2010
5
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 61 54
19882644 2010
6
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 61 54
20145110 2010
7
Potential role of IL-18 in the immunopathogenesis of AIDS, HIV-associated lipodystrophy and related clinical conditions. 61 54
19954415 2010
8
Rationale for leptin-replacement therapy for severe lipodystrophy. 61 54
20061299 2010
9
Clinical classification and treatment of congenital and acquired lipodystrophy. 61 54
20061300 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. 61 54
20097706 2010
11
HIV protease inhibitors inhibit FACE1/ZMPSTE24: a mechanism for acquired lipodystrophy in patients on highly active antiretroviral therapy? 54 61
20074077 2010
12
Efficacy of leptin therapy in the different forms of human lipodystrophy. 61 54
19727665 2010
13
Endothelial function is impaired in HIV-infected patients with lipodystrophy. 61 54
20167996 2010
14
Leptin therapy in lipodystrophy. 54 61
19802712 2010
15
Interleukin 18 and cardiovascular disease in HIV-1 infection: a partner in crime? 61 54
20216908 2010
16
Adiponectin and leptin levels in Chinese patients with HIV-related lipodystrophy: a 30-month prospective study. 61 54
20001516 2009
17
Mouse models of inherited lipodystrophy. 54 61
19892886 2009
18
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. 54 61
19574402 2009
19
PPARgamma Pro12Ala polymorphism in HIV-1-infected patients with HAART-related lipodystrophy. 54 61
19534662 2009
20
Inherited lipodystrophies and hypertriglyceridemia. 54 61
19494770 2009
21
Lipodystrophy in children and adolescents with acquired immunodeficiency syndrome and its relationship with the antiretroviral therapy employed. 54 61
19668909 2009
22
The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. 61 54
19201734 2009
23
Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. 61 54
19278620 2009
24
Defective peroxisomal proliferators activated receptor gamma activity due to dominant-negative mutation synergizes with hypertension to accelerate cardiac fibrosis in mice. 61 54
19395708 2009
25
Leptin in humans: lessons from translational research. 54 61
19176740 2009
26
Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome. 61 54
19270485 2009
27
Relationship between polymerase gamma (POLG) polymorphisms and antiretroviral therapy-induced lipodystrophy in HIV-1 infected patients: a case-control study. 61 54
19275594 2009
28
Low prevalence of insulin resistance among HIV-infected children receiving nonnucleoside reverse transcriptase inhibitor-based highly active antiretroviral therapy in Thailand. 54 61
19018877 2009
29
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 61 54
19283854 2009
30
Is PPARγ a prospective player in HIV-1-associated bone disease? 54 61
19325916 2009
31
The effects of Thiazolidinediones on metabolic complications and Lipodystrophy in HIV-infected patients. 54 61
19096512 2009
32
Antiretroviral-related adipocyte dysfunction and lipodystrophy in HIV-infected patients: Alteration of the PPARγ-dependent pathways. 61 54
19125203 2009
33
Effect of extended-release niacin on hormone-sensitive lipase and lipoprotein lipase in patients with HIV-associated lipodystrophy syndrome. 54 61
19707470 2008
34
Disturbance of apolipoprotein B100 containing lipoprotein metabolism in severe hyperlipidemic and lipodystrophic HIV patients on combined antiretroviral therapy: evidences of insulin resistance effect. 54 61
18991738 2008
35
The effect of strength and endurance training on insulin sensitivity and fat distribution in human immunodeficiency virus-infected patients with lipodystrophy. 61 54
18628529 2008
36
Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations. 54 61
18591397 2008
37
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. 54 61
18698612 2008
38
The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. 54 61
18458148 2008
39
Genetic analysis implicates resistin in HIV lipodystrophy. 61 54
18670214 2008
40
Effect of depot medroxyprogesterone acetate on glucose tolerance in generalized lipodystrophy. 61 54
18669758 2008
41
A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy. 61 54
18031308 2008
42
Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy. 54 61
18364375 2008
43
A potent HIV protease inhibitor, darunavir, does not inhibit ZMPSTE24 or lead to an accumulation of farnesyl-prelamin A in cells. 61 54
18230615 2008
44
Leptin therapy for partial lipodystrophy linked to a PPAR-gamma mutation. 54 61
18076675 2008
45
Effect of leptin infusion on insulin sensitivity and lipid metabolism in diet-induced lipodystrophy model mice. 61 54
18348717 2008
46
Metabolic consequences and therapeutic options in highly active antiretroviral therapy in human immunodeficiency virus-1 infection. 54 61
18070830 2008
47
Human immunodeficiency virus (HIV)-1 viral protein R suppresses transcriptional activity of peroxisome proliferator-activated receptor {gamma} and inhibits adipocyte differentiation: implications for HIV-associated lipodystrophy. 54 61
17932108 2008
48
Association of APOC3 polymorphisms with both dyslipidemia and lipoatrophy in HAART-receiving patients. 61 54
18240956 2008
49
Early changes in adipokine levels and baseline limb fat may predict HIV lipoatrophy over 2 years following initiation of antiretroviral therapy. 61 54
18257772 2008
50
Relationship of fat distribution with adipokines in human immunodeficiency virus infection. 54 61
17940113 2008

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

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

6 (show all 40)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLD1 NM_002691.4(POLD1):c.1809_1811CTC[1] (p.Ser605del) Microsatellite Pathogenic 60775 rs398122386 19:50912075-50912077 19:50408818-50408820
2 PPARG NM_015869.4(PPARG):c.1484C>T (p.Pro495Leu) SNV Pathogenic 8136 rs121909244 3:12475610-12475610 3:12434111-12434111
3 LMNA NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) SNV Pathogenic 66888 rs57077886 1:156084738-156084738 1:156114947-156114947
4 LMNA NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) SNV Likely pathogenic 66952 rs267607591 1:156105065-156105065 1:156135274-156135274
5 POLD1 NM_002691.4(POLD1):c.1384-10A>C SNV Uncertain significance 931289 19:50909654-50909654 19:50406397-50406397
6 POLD1 NM_002691.4(POLD1):c.2623C>T (p.Arg875Cys) SNV Uncertain significance 439256 rs751565067 19:50918753-50918753 19:50415496-50415496
7 POLD1 NM_002691.4(POLD1):c.2221G>A (p.Val741Met) SNV Uncertain significance 932036 19:50916749-50916749 19:50413492-50413492
8 POLD1 NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) SNV Uncertain significance 239345 rs780604625 19:50905071-50905071 19:50401814-50401814
9 POLD1 NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp) SNV Uncertain significance 469225 rs768773535 19:50912133-50912133 19:50408876-50408876
10 POLD1 NM_002691.4(POLD1):c.208G>T (p.Val70Phe) SNV Uncertain significance 225288 rs147911699 19:50902633-50902633 19:50399376-50399376
11 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His) SNV Uncertain significance 163878 rs142191737 1:156107470-156107470 1:156137679-156137679
12 POLD1 NM_002691.4(POLD1):c.3185A>G (p.Gln1062Arg) SNV Uncertain significance 995953 19:50920493-50920493 19:50417236-50417236
13 POLD1 NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) SNV Uncertain significance 221136 rs41554817 19:50905989-50905989 19:50402732-50402732
14 POLD1 NM_002691.4(POLD1):c.1157G>A (p.Arg386His) SNV Uncertain significance 239224 rs764023083 19:50906769-50906769 19:50403512-50403512
15 POLD1 NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) SNV Uncertain significance 484376 rs752444746 19:50909487-50909487 19:50406230-50406230
16 POLD1 NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly) SNV Uncertain significance 407957 rs774130423 19:50909490-50909490 19:50406233-50406233
17 POLD1 NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) SNV Uncertain significance 239230 rs376711125 19:50909518-50909518 19:50406261-50406261
18 POLD1 NM_002691.4(POLD1):c.1363G>A (p.Val455Met) SNV Uncertain significance 407953 rs762670703 19:50909559-50909559 19:50406302-50406302
19 POLD1 NM_002691.4(POLD1):c.1516C>T (p.Arg506Cys) SNV Uncertain significance 486073 rs528292347 19:50910261-50910261 19:50407004-50407004
20 POLD1 NM_002691.4(POLD1):c.2290G>A (p.Gly764Ser) SNV Uncertain significance 239281 rs148838746 19:50917038-50917038 19:50413781-50413781
21 POLD1 NM_002691.4(POLD1):c.2563C>T (p.Arg855Ter) SNV Uncertain significance 407990 rs768048535 19:50918246-50918246 19:50414989-50414989
22 POLD1 NM_002691.4(POLD1):c.245C>T (p.Pro82Leu) SNV Uncertain significance 239294 rs201006221 19:50902670-50902670 19:50399413-50399413
23 POLD1 NM_002691.4(POLD1):c.496C>T (p.Arg166Trp) SNV Uncertain significance 221171 rs376236497 19:50905288-50905288 19:50402031-50402031
24 POLD1 NM_002691.4(POLD1):c.652C>T (p.Arg218Cys) SNV Uncertain significance 570525 rs1295943468 19:50905524-50905524 19:50402267-50402267
25 POLD1 NM_002691.4(POLD1):c.713C>T (p.Thr238Met) SNV Uncertain significance 246444 rs553342844 19:50905585-50905585 19:50402328-50402328
26 POLD1 NM_002691.4(POLD1):c.1717G>T (p.Val573Leu) SNV Uncertain significance 469213 rs760616076 19:50910614-50910614 19:50407357-50407357
27 POLD1 NM_002691.4(POLD1):c.2197C>G (p.Gln733Glu) SNV Uncertain significance 573996 rs1471359934 19:50916725-50916725 19:50413468-50413468
28 POLD1 NM_002691.4(POLD1):c.2467C>T (p.Arg823Cys) SNV Uncertain significance 407966 rs376946722 19:50918150-50918150 19:50414893-50414893
29 POLD1 NM_002691.4(POLD1):c.3167C>T (p.Thr1056Met) SNV Uncertain significance 421647 rs772397517 19:50920475-50920475 19:50417218-50417218
30 POLD1 NM_002691.4(POLD1):c.301A>T (p.Ile101Phe) SNV Uncertain significance 408120 rs140858857 19:50902726-50902726 19:50399469-50399469
31 POLD1 NM_002691.4(POLD1):c.343C>T (p.Pro115Ser) SNV Uncertain significance 407960 rs754917939 19:50905061-50905061 19:50401804-50401804
32 POLD1 NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn) SNV Uncertain significance 407993 rs763465385 19:50912416-50912416 19:50409159-50409159
33 POLD1 NM_002691.4(POLD1):c.3298G>A (p.Gly1100Arg) SNV Uncertain significance 408063 rs1060501837 19:50921178-50921178 19:50417921-50417921
34 POLD1 NM_002691.4(POLD1):c.223A>G (p.Ile75Val) SNV Uncertain significance 408088 rs940296193 19:50902648-50902648 19:50399391-50399391
35 POLD1 NM_002691.4(POLD1):c.2861C>G (p.Thr954Arg) SNV Uncertain significance 239314 rs374016016 19:50919693-50919693 19:50416436-50416436
36 POLD1 NM_002691.4(POLD1):c.34G>A (p.Gly12Arg) SNV Uncertain significance 407998 rs772197667 19:50902142-50902142 19:50398885-50398885
37 POLD1 NM_002691.4(POLD1):c.866A>G (p.Asp289Gly) SNV Uncertain significance 239371 rs878854558 19:50905894-50905894 19:50402637-50402637
38 POLD1 NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) SNV Uncertain significance 239267 rs144707871 19:50902628-50902628 19:50399371-50399371
39 POLD1 NM_002691.4(POLD1):c.2760C>G (p.Asp920Glu) SNV Uncertain significance 469296 rs1057521209 19:50919023-50919023 19:50415766-50415766
40 POLD1 NM_002691.4(POLD1):c.497G>A (p.Arg166Gln) SNV Likely benign 239350 rs750144413 19:50905289-50905289 19:50402032-50402032

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 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 27)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.8 PPARG LPIN1 LEP BSCL2 AGPAT2
2 positive regulation of glucose import GO:0046326 9.63 INS ADIPOQ
3 DNA biosynthetic process GO:0071897 9.63 POLG POLD1
4 response to nutrient GO:0007584 9.63 PPARG LEP ADIPOQ
5 nucleus organization GO:0006997 9.62 ZMPSTE24 LMNA
6 DNA-dependent DNA replication GO:0006261 9.62 POLG POLD1
7 positive regulation of insulin receptor signaling pathway GO:0046628 9.61 LEP INS
8 regulation of glucose metabolic process GO:0010906 9.61 ZMPSTE24 ADIPOQ
9 cellular lipid metabolic process GO:0044255 9.6 ZMPSTE24 LPIN1
10 regulation of fat cell differentiation GO:0045598 9.59 PPARG LEP
11 nuclear envelope organization GO:0006998 9.58 ZMPSTE24 LMNA
12 determination of adult lifespan GO:0008340 9.58 ZMPSTE24 LEP
13 negative regulation of lipid catabolic process GO:0050995 9.57 INS BSCL2
14 negative regulation of gluconeogenesis GO:0045721 9.56 INS ADIPOQ
15 fatty acid homeostasis GO:0055089 9.55 POLD1 INS
16 fatty acid oxidation GO:0019395 9.54 PPARG ADIPOQ
17 glucose metabolic process GO:0006006 9.54 LEP INS ADIPOQ
18 fatty acid catabolic process GO:0009062 9.52 LPIN1 LEP
19 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.51 PPARG ADIPOQ
20 regulation of protein localization to nucleus GO:1900180 9.49 LMNA LEP
21 negative regulation of acute inflammatory response GO:0002674 9.48 PPARG INS
22 glucose homeostasis GO:0042593 9.46 PPARG LEP INS ADIPOQ
23 base-excision repair, gap-filling GO:0006287 9.43 POLG POLD1
24 positive regulation of cytokine production GO:0001819 9.43 LEP INS AGPAT2
25 positive regulation of fatty acid metabolic process GO:0045923 9.32 PPARG ADIPOQ
26 cellular response to insulin stimulus GO:0032869 9.26 PPARG LPIN1 LEP ADIPOQ
27 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 DNA-directed DNA polymerase activity GO:0003887 9.16 POLG POLD1
2 3'-5' exonuclease activity GO:0008408 8.96 POLG POLD1
3 hormone activity GO:0005179 8.8 LEP INS ADIPOQ

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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