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MDPL
MCID: MND021
MIFTS: 65

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

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

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

Name: Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 56 52 73 29 6
Lipodystrophy 43 39 17 71
Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome 52 58
Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome 52 58
Mdpl Syndrome 52 58
Mdp Syndrome 52 58
Mdpl 56 73
Hypoplasia, Mandibular, Deafness, Progeroid Features, and Lipodystrophy Syndrome 39
Andibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 71
Mandibular Hypoplasia, Deafness, Progeroid Features 52
Mandibular Hypoplasia-Deafness-Progeroid Syndrome 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Ear diseases Skin diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Sources

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

About this section
NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 363649 Definition Mandibular 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 mandibuloacral dysplasia with type a lipodystrophy, 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 adipocyte, liver and skin, and related phenotypes are hepatomegaly and scoliosis

OMIM : 56 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 : 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...

Sources

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

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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 563)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 4 34.6 BSCL2 AGPAT2
2 mandibuloacral dysplasia with type a lipodystrophy 34.4 ZMPSTE24 LMNA
3 lipodystrophy, familial partial, type 1 34.1 LMNA BSCL2 AGPAT2
4 lipodystrophy, familial partial, type 3 34.1 LMNA BSCL2 AGPAT2
5 lipodystrophy, congenital generalized, type 3 33.8 LPIN1 BSCL2 AGPAT2
6 lipodystrophy, familial partial, type 5 33.5 ZMPSTE24 LMNA BSCL2 AGPAT2
7 berardinelli-seip congenital lipodystrophy 33.1 LEP BSCL2 AGPAT2
8 lipodystrophy, congenital generalized, type 2 32.6 LPIN1 LMNA LEP BSCL2 AGPAT2
9 familial partial lipodystrophy 32.3 LMNA LEP INS BSCL2 AGPAT2 ADIPOQ
10 acquired generalized lipodystrophy 32.1 ZMPSTE24 LMNA LEP BSCL2 AGPAT2 ADIPOQ
11 lipodystrophy, familial partial, type 2 31.7 ZMPSTE24 LMNA LEP INS BSCL2 AGPAT2
12 lipodystrophy, congenital generalized, type 1 31.6 ZMPSTE24 LMNA LEP INS BSCL2 AGPAT2
13 congenital generalized lipodystrophy 31.5 ZMPSTE24 LPIN1 LMNA LEP INS BSCL2
14 skin atrophy 30.6 ZMPSTE24 LMNA
15 laminopathy 30.4 ZMPSTE24 LMNA
16 complete generalized lipodystrophy 30.4 ZMPSTE24 LPIN1 LMNA LEP INS BSCL2
17 acroosteolysis 30.3 ZMPSTE24 LMNA
18 fatty liver disease 30.2 LEP INS ADIPOQ
19 hutchinson-gilford progeria syndrome 30.2 ZMPSTE24 LMNA ADIPOQ
20 lipid metabolism disorder 30.1 LMNA LEP INS ADIPOQ
21 hyperinsulinism 30.0 LEP INS ADIPOQ
22 cardiomyopathy, dilated, 1a 29.9 ZMPSTE24 LMNA
23 acanthosis nigricans 29.9 LMNA LEP INS ADIPOQ
24 emery-dreifuss muscular dystrophy 2, autosomal dominant 29.8 ZMPSTE24 LMNA
25 monogenic diabetes 29.8 LMNA INS BSCL2
26 polycystic ovary syndrome 29.8 LEP INS ADIPOQ
27 hyperglycemia 29.8 LEP INS ADIPOQ
28 restrictive dermopathy, lethal 29.7 ZMPSTE24 LMNA
29 spastic paraplegia 17, autosomal dominant 29.7 BSCL2 AGPAT2
30 umbilical hernia 29.7 BSCL2 AGPAT2
31 familial hyperlipidemia 29.5 LEP INS ADIPOQ
32 glucose intolerance 29.5 LMNA LEP INS ADIPOQ
33 fatty liver disease, nonalcoholic 1 29.5 LEP INS ADIPOQ
34 autosomal dominant distal hereditary motor neuronopathy 29.5 LMNA BSCL2 AGPAT2
35 peripheral nervous system disease 29.5 LMNA LEP INS
36 acromegaly 29.4 LEP INS ADIPOQ
37 atherosclerosis susceptibility 29.4 LEP INS ADIPOQ
38 neuronopathy, distal hereditary motor, type va 29.3 BSCL2 AGPAT2
39 sleep apnea 29.3 LEP INS ADIPOQ
40 adiposis dolorosa 29.3 ZMPSTE24 BSCL2 AGPAT2
41 pericarditis 29.3 LEP ADIPOQ
42 abdominal obesity-metabolic syndrome 1 29.2 LEP INS ADIPOQ
43 diabetes mellitus 29.1 LMNA LEP INS BSCL2 ADIPOQ
44 ovarian disease 29.0 LEP INS ADIPOQ
45 gestational diabetes 29.0 LEP INS ADIPOQ
46 lysosomal storage disease 29.0 LEP INS ADIPOQ
47 apnea, obstructive sleep 28.8 LEP INS ADIPOQ
48 inherited metabolic disorder 28.8 LEP INS ADIPOQ
49 anovulation 28.8 LEP INS
50 leptin deficiency or dysfunction 28.8 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
Sources

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

About this section

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

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

56
Abdomen Liver:
hepatomegaly
hepatic steatosis

Laboratory Abnormalities:
hypertriglyceridemia
abnormal liver function tests

Skeletal:
osteoporosis
joint contractures

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

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

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

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:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.18 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
2 endocrine/exocrine gland MP:0005379 10.18 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
3 behavior/neurological MP:0005386 10.17 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
4 cardiovascular system MP:0005385 10.16 ADIPOQ BSCL2 INS LEP LMNA LPIN1
5 growth/size/body region MP:0005378 10.11 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
6 hematopoietic system MP:0005397 10.1 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
7 cellular MP:0005384 10.09 ADIPOQ BSCL2 INS LEP LMNA POLD1
8 integument MP:0010771 10.09 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
9 homeostasis/metabolism MP:0005376 10.08 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
10 immune system MP:0005387 10.06 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
11 digestive/alimentary MP:0005381 10.01 AGPAT2 BSCL2 INS LEP LMNA ZMPSTE24
12 liver/biliary system MP:0005370 9.97 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
13 mortality/aging MP:0010768 9.97 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
14 limbs/digits/tail MP:0005371 9.8 AGPAT2 BSCL2 LEP LMNA ZMPSTE24
15 muscle MP:0005369 9.8 ADIPOQ INS LEP LMNA LPIN1 POLD1
16 nervous system MP:0003631 9.7 ADIPOQ BSCL2 INS LEP LMNA LPIN1
17 renal/urinary system MP:0005367 9.5 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
18 skeleton MP:0005390 9.23 ADIPOQ AGPAT2 BSCL2 INS LEP LMNA
Sources

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

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

(show top 50) (show all 164)
# 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
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
6
Nevirapine Approved Phase 4 129618-40-2 4463
7
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
8
Indinavir Approved Phase 4 150378-17-9 5362440
9
Didanosine Approved Phase 4 69655-05-6 50599
10
Amprenavir Approved, Investigational Phase 4 161814-49-9 65016
11
Tipranavir Approved, Investigational Phase 4 174484-41-4 65027
12
Lopinavir Approved Phase 4 192725-17-0 92727
13
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
14
Zalcitabine Approved, Investigational Phase 4 7481-89-2 24066
15
Metformin Approved Phase 4 657-24-9 14219 4091
16
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
17
Pravastatin Approved Phase 4 81093-37-0 54687
18
Insulin glulisine Approved Phase 4 207748-29-6
19
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
20
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
21
Zidovudine Approved Phase 4 30516-87-1 35370
22
Darunavir Approved Phase 4 206361-99-1, 635728-49-3 213039
23
Rilpivirine Approved Phase 4 500287-72-9
24
Cobicistat Approved Phase 4 1004316-88-4
25
Dolutegravir Approved Phase 4 1051375-16-6 54726191
26
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
27
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
28
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
29
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
30
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
31 Atazanavir Sulfate Phase 4
32 Antitubercular Agents Phase 4
33 Anti-Bacterial Agents Phase 4
34 Antibiotics, Antitubercular Phase 4
35 Hormone Antagonists Phase 4
36 Micronutrients Phase 4
37 Vitamins Phase 4
38 Vitamin B Complex Phase 4
39 Folate Phase 4
40 Nutrients Phase 4
41 Trace Elements Phase 4
42 Vitamin B9 Phase 4
43 Thiamin Phase 4
44 Dermatologic Agents Phase 4
45 Photosensitizing Agents Phase 4
46 Vitamin B2 Phase 4
47 Omega 3 Fatty Acid Phase 4
48 Emtricitabine, Tenofovir Disoproxil Fumarate Drug Combination Phase 4
49 Cytochrome P-450 Enzyme Inhibitors Phase 4
50 Cytochrome P-450 CYP3A Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 218)
# 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 The Study of Mechanisms of Lipodystrophy in HIV-Infected Patients Completed NCT00006190 Phase 4 Nelfinavir mesylate;Stavudine;Lamivudine;Efavirenz
6 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)
7 Mecahnisms of Lipodystrophy in HIV-Infected Patients Completed NCT00457665 Phase 4 Nelfinavir;Efavirenz
8 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
9 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
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 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 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)
14 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
15 A Randomised, Double-Blind Study of Pravastatin for the Treatment of Hyperlipidaemia in Patients With HIV Completed NCT00227500 Phase 4 Pravastatin
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 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
18 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)
19 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
20 Yoga for the Management of HIV-Metabolic Syndromes Completed NCT00627380 Phase 4
21 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
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 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)
24 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
25 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
26 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 Lumbar puncture (Lopinavir/ritonavir monotherapy);Lumbar puncture (HAART: Lopinavir/ritonavir + 2 NRTI)
27 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
28 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)
29 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
30 Body Composition and Adipose Tissue in HIV Lipodystrophy: Effects of Tesamorelin Therapy Recruiting NCT03226821 Phase 4 Tesamorelin
31 Contribution of the Integrase Inhibitor Dolutegravir to Obesity and Cardiovascular Disease in Persons Living With HIV Not yet recruiting NCT04340388 Phase 4 Dolutegravir 50 MG;Antiretroviral/Anti HIV
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 Sculptraâ„¢ 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 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
46 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
47 Strategic, Long Term, Immunologically Driven Treatment Interruptions in Patients on Effective HAART: A Controlled, Randomized Study Completed NCT00433056 Phase 3 stable HAART
48 Effect of Omega 3 Fatty Acids on Oxidative Stress in Seropositive HIV Patients Completed NCT02041520 Phase 3 omega 3 fatty acids
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 71 / NDF-RT 50 :


metreleptin

Cochrane evidence based reviews: lipodystrophy

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

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

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

40
Adipocyte, Liver, Skin, Bone, Skeletal Muscle, Breast, Eye
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Publications for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

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

(show top 50) (show all 4493)
# Title Authors PMID Year
1
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 61 56 6
23770608 2013
2
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. 61 56
20631028 2010
3
Lipodystrophy, lipid profile changes, and low serum retinol and carotenoid levels in children and adolescents with acquired immunodeficiency syndrome. 54 61
20116215 2010
4
What have we learned form monogenic forms of severe insulin resistance associated with PCOS/HAIRAN? 54 61
20362964 2010
5
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 54 61
19882644 2010
6
Clinical classification and treatment of congenital and acquired lipodystrophy. 61 54
20061300 2010
7
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 54 61
20145110 2010
8
Rationale for leptin-replacement therapy for severe lipodystrophy. 61 54
20061299 2010
9
Potential role of IL-18 in the immunopathogenesis of AIDS, HIV-associated lipodystrophy and related clinical conditions. 54 61
19954415 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. 54 61
20097706 2010
11
HIV protease inhibitors inhibit FACE1/ZMPSTE24: a mechanism for acquired lipodystrophy in patients on highly active antiretroviral therapy? 61 54
20074077 2010
12
Endothelial function is impaired in HIV-infected patients with lipodystrophy. 54 61
20167996 2010
13
Leptin therapy in lipodystrophy. 61 54
19802712 2010
14
Efficacy of leptin therapy in the different forms of human lipodystrophy. 61 54
19727665 2010
15
Interleukin 18 and cardiovascular disease in HIV-1 infection: a partner in crime? 54 61
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. 61 54
19574402 2009
19
PPARgamma Pro12Ala polymorphism in HIV-1-infected patients with HAART-related lipodystrophy. 54 61
19534662 2009
20
Inherited lipodystrophies and hypertriglyceridemia. 61 54
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. 54 61
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
Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome. 61 54
19270485 2009
26
Leptin in humans: lessons from translational research. 54 61
19176740 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
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 54 61
19283854 2009
29
Low prevalence of insulin resistance among HIV-infected children receiving nonnucleoside reverse transcriptase inhibitor-based highly active antiretroviral therapy in Thailand. 61 54
19018877 2009
30
Antiretroviral-related adipocyte dysfunction and lipodystrophy in HIV-infected patients: Alteration of the PPARγ-dependent pathways. 54 61
19125203 2009
31
The effects of Thiazolidinediones on metabolic complications and Lipodystrophy in HIV-infected patients. 61 54
19096512 2009
32
Is PPARγ a prospective player in HIV-1-associated bone disease? 61 54
19325916 2009
33
Effect of extended-release niacin on hormone-sensitive lipase and lipoprotein lipase in patients with HIV-associated lipodystrophy syndrome. 61 54
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
Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability. 54 61
18698612 2008
37
Evaluating the role of LPIN1 variation in insulin resistance, body weight, and human lipodystrophy in U.K. Populations. 61 54
18591397 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. 54 61
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. 61 54
18364375 2008
43
Leptin therapy for partial lipodystrophy linked to a PPAR-gamma mutation. 61 54
18076675 2008
44
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
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. 61 54
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. 61 54
17932108 2008
48
Early changes in adipokine levels and baseline limb fat may predict HIV lipoatrophy over 2 years following initiation of antiretroviral therapy. 54 61
18257772 2008
49
Association of APOC3 polymorphisms with both dyslipidemia and lipoatrophy in HAART-receiving patients. 54 61
18240956 2008
50
Accelerated telomere shortening and replicative senescence in human fibroblasts overexpressing mutant and wild-type lamin A. 61 54
17870066 2008
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Variations for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

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

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLD1 NM_002691.4(POLD1):c.1809_1811CTC[1] (p.Ser605del)short repeat Pathogenic 60775 rs398122386 19:50912075-50912077 19:50408818-50408820
2 LMNA NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)SNV Pathogenic/Likely pathogenic 66888 rs57077886 1:156084738-156084738 1:156114947-156114947
3 LMNA NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)SNV Likely pathogenic 66952 rs267607591 1:156105065-156105065 1:156135274-156135274
4 POLD1 NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)SNV Conflicting interpretations of pathogenicity 221136 rs41554817 19:50905989-50905989 19:50402732-50402732
5 POLD1 NM_002691.4(POLD1):c.208G>T (p.Val70Phe)SNV Conflicting interpretations of pathogenicity 225288 rs147911699 19:50902633-50902633 19:50399376-50399376
6 POLD1 NM_002691.4(POLD1):c.203G>A (p.Gly68Glu)SNV Uncertain significance 239267 rs144707871 19:50902628-50902628 19:50399371-50399371
7 POLD1 NM_002691.4(POLD1):c.245C>T (p.Pro82Leu)SNV Uncertain significance 239294 rs201006221 19:50902670-50902670 19:50399413-50399413
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.866A>G (p.Asp289Gly)SNV Uncertain significance 239371 rs878854558 19:50905894-50905894 19:50402637-50402637
10 POLD1 NM_002691.4(POLD1):c.1157G>A (p.Arg386His)SNV Uncertain significance 239224 rs764023083 19:50906769-50906769 19:50403512-50403512
11 POLD1 NM_002691.4(POLD1):c.1322C>T (p.Thr441Met)SNV Uncertain significance 239230 rs376711125 19:50909518-50909518 19:50406261-50406261
12 POLD1 NM_002691.4(POLD1):c.2290G>A (p.Gly764Ser)SNV Uncertain significance 239281 rs148838746 19:50917038-50917038 19:50413781-50413781
13 POLD1 NM_002691.4(POLD1):c.2861C>G (p.Thr954Arg)SNV Uncertain significance 239314 rs374016016 19:50919693-50919693 19:50416436-50416436
14 POLD1 NM_002691.4(POLD1):c.713C>T (p.Thr238Met)SNV Uncertain significance 246444 rs553342844 19:50905585-50905585 19:50402328-50402328
15 POLD1 NM_002691.4(POLD1):c.496C>T (p.Arg166Trp)SNV Uncertain significance 221171 rs376236497 19:50905288-50905288 19:50402031-50402031
16 POLD1 NM_002691.4(POLD1):c.34G>A (p.Gly12Arg)SNV Uncertain significance 407998 rs772197667 19:50902142-50902142 19:50398885-50398885
17 POLD1 NM_002691.4(POLD1):c.1363G>A (p.Val455Met)SNV Uncertain significance 407953 rs762670703 19:50909559-50909559 19:50406302-50406302
18 POLD1 NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn)SNV Uncertain significance 407993 rs763465385 19:50912416-50912416 19:50409159-50409159
19 POLD1 NM_002691.4(POLD1):c.2467C>T (p.Arg823Cys)SNV Uncertain significance 407966 rs376946722 19:50918150-50918150 19:50414893-50414893
20 POLD1 NM_002691.4(POLD1):c.3298G>A (p.Gly1100Arg)SNV Uncertain significance 408063 rs1060501837 19:50921178-50921178 19:50417921-50417921
21 POLD1 NM_002691.4(POLD1):c.223A>G (p.Ile75Val)SNV Uncertain significance 408088 rs940296193 19:50902648-50902648 19:50399391-50399391
22 POLD1 NM_002691.4(POLD1):c.301A>T (p.Ile101Phe)SNV Uncertain significance 408120 rs140858857 19:50902726-50902726 19:50399469-50399469
23 POLD1 NM_002691.4(POLD1):c.343C>T (p.Pro115Ser)SNV Uncertain significance 407960 rs754917939 19:50905061-50905061 19:50401804-50401804
24 POLD1 NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly)SNV Uncertain significance 407957 rs774130423 19:50909490-50909490 19:50406233-50406233
25 POLD1 NM_002691.4(POLD1):c.2563C>T (p.Arg855Ter)SNV Uncertain significance 407990 rs768048535 19:50918246-50918246 19:50414989-50414989
26 POLD1 NM_002691.4(POLD1):c.3167C>T (p.Thr1056Met)SNV Uncertain significance 421647 rs772397517 19:50920475-50920475 19:50417218-50417218
27 POLD1 NM_002691.4(POLD1):c.1717G>T (p.Val573Leu)SNV Uncertain significance 469213 rs760616076 19:50910614-50910614 19:50407357-50407357
28 POLD1 NM_002691.4(POLD1):c.2760C>G (p.Asp920Glu)SNV Uncertain significance 469296 rs1057521209 19:50919023-50919023 19:50415766-50415766
29 POLD1 NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp)SNV Uncertain significance 469225 rs768773535 19:50912133-50912133 19:50408876-50408876
30 POLD1 NM_002691.4(POLD1):c.1516C>T (p.Arg506Cys)SNV Uncertain significance 486073 rs528292347 19:50910261-50910261 19:50407004-50407004
31 POLD1 NM_002691.4(POLD1):c.1291A>G (p.Ile431Val)SNV Uncertain significance 484376 rs752444746 19:50909487-50909487 19:50406230-50406230
32 POLD1 NM_002691.4(POLD1):c.2197C>G (p.Gln733Glu)SNV Uncertain significance 573996 rs1471359934 19:50916725-50916725 19:50413468-50413468
33 POLD1 NM_002691.4(POLD1):c.652C>T (p.Arg218Cys)SNV Uncertain significance 570525 rs1295943468 19:50905524-50905524 19:50402267-50402267
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Expression for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

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

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

# Super pathways Score Top Affiliating Genes
1
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 65
Show member pathways
 12.44 LPIN1 LEP AGPAT2 ADIPOQ
2
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.07 LEP INS ADIPOQ
3
Glucose / Energy Metabolism 4
11.84 LPIN1 INS BSCL2 AGPAT2 ADIPOQ
4
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.41 LEP INS ADIPOQ
5
Adipogenesis 1
11.35 ZMPSTE24 LPIN1 LMNA LEP INS BSCL2
6
Signaling events mediated by PTP1B 1
11.16 LEP INS
7
Differentiation of white and brown adipocyte 1
10.8 LEP ADIPOQ
8
Transcription factor regulation in adipogenesis 1
10.67 LPIN1 LEP ADIPOQ
9
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.62 LEP INS
Sources

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

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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 GO:0005783 9.35 ZMPSTE24 LPIN1 BSCL2 AGPAT2 ADIPOQ
2 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 21)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.84 LPIN1 LEP BSCL2 AGPAT2
2 fatty acid beta-oxidation GO:0006635 9.6 LEP ADIPOQ
3 response to activity GO:0014823 9.59 LEP ADIPOQ
4 positive regulation of glucose import GO:0046326 9.58 INS ADIPOQ
5 positive regulation of cytokine production GO:0001819 9.58 LEP AGPAT2
6 nucleus organization GO:0006997 9.57 ZMPSTE24 LMNA
7 regulation of glucose metabolic process GO:0010906 9.56 ZMPSTE24 ADIPOQ
8 positive regulation of insulin receptor signaling pathway GO:0046628 9.55 LEP INS
9 cellular lipid metabolic process GO:0044255 9.52 ZMPSTE24 LPIN1
10 nuclear envelope organization GO:0006998 9.51 ZMPSTE24 LMNA
11 glucose homeostasis GO:0042593 9.5 LEP INS ADIPOQ
12 negative regulation of gluconeogenesis GO:0045721 9.49 INS ADIPOQ
13 determination of adult lifespan GO:0008340 9.48 ZMPSTE24 LEP
14 fatty acid homeostasis GO:0055089 9.46 POLD1 INS
15 negative regulation of lipid catabolic process GO:0050995 9.43 INS BSCL2
16 cellular response to insulin stimulus GO:0032869 9.43 LPIN1 LEP ADIPOQ
17 positive regulation of cellular protein metabolic process GO:0032270 9.4 INS ADIPOQ
18 fatty acid catabolic process GO:0009062 9.37 LPIN1 LEP
19 regulation of protein localization to nucleus GO:1900180 9.16 LMNA LEP
20 glucose metabolic process GO:0006006 9.13 LEP INS ADIPOQ
21 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
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Sources for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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