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MDPL
MCID: MND021
MIFTS: 57

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

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Skin diseases
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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 57 19 73
Mandibular Hypoplasia-Deafness-Progeroid Syndrome 19 28 5
Mdp Syndrome 19 58 75
Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome 19 58
Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome 19 58
Mdpl Syndrome 19 58
Mdpl 57 73
Hypoplasia, Mandibular, Deafness, Progeroid Features, and Lipodystrophy Syndrome 38
Andibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 71
Mandibular Hypoplasia, Deafness, Progeroid Features 19
Lipodystrophy 71

Characteristics:


Inheritance:

Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome: Autosomal dominant 57
Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome: Autosomal dominant 58

Prevelance:

Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Mandibular Hypoplasia-Deafness-Progeroid Features-Lipodystrophy Syndrome: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of lipodystrophy in early childhood
onset of hearing loss in first or second decade


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Skin diseases Ear diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 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...

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GARD: 19 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.

MalaCards based summary: Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome, also known as mandibular hypoplasia-deafness-progeroid syndrome, is related to lipid metabolism disorder and prediabetes syndrome, 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 Glucose / Energy Metabolism and Mesenchymal Stem Cells and Lineage-specific Markers. The drugs Ritonavir and Amprenavir have been mentioned in the context of this disorder. Affiliated tissues include skin, skeletal muscle and breast, and related phenotypes are scoliosis and kyphosis

Orphanet: 58 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.

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 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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...
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 74)
# Related Disease Score Top Affiliating Genes
1 lipid metabolism disorder 30.1 LMNA INS ADIPOQ
2 prediabetes syndrome 29.5 INS ADIPOQ
3 congenital generalized lipodystrophy 29.1 LMNA INS BSCL2 AGPAT2 ADIPOQ
4 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
5 progeroid syndrome 10.5
6 premature aging 10.5
7 hypertriglyceridemia 1 10.4
8 hutchinson-gilford progeria syndrome 10.4
9 werner syndrome 10.4
10 sensorineural hearing loss 10.4
11 telangiectasis 10.4
12 hypogonadism 10.4
13 skin atrophy 10.4
14 cataract 10.4
15 genetic progeroid syndrome 10.4
16 supine hypotensive syndrome 10.0 LMNA INS
17 hair disease 9.9 LMNA INS
18 generalized atherosclerosis 9.9 INS ADIPOQ
19 hypercholesterolemia, familial, 1 9.9 LMNA INS
20 abdominal obesity-metabolic syndrome quantitative trait locus 2 9.9 INS ADIPOQ
21 nonobstructive coronary artery disease 9.9 INS ADIPOQ
22 coronary heart disease 1 9.9 INS ADIPOQ
23 adult syndrome 9.9 INS ADIPOQ
24 aromatase excess syndrome 9.9 INS ADIPOQ
25 pellagra 9.9 INS ADIPOQ
26 apnea, obstructive sleep 9.9 INS ADIPOQ
27 sleep disorder 9.9 INS ADIPOQ
28 abdominal obesity-metabolic syndrome 1 9.9 INS ADIPOQ
29 proteasome-associated autoinflammatory syndrome 1 9.9 INS ADIPOQ
30 non-alcoholic steatohepatitis 9.9 INS ADIPOQ
31 retinal detachment 9.9
32 aging 9.9
33 microvascular complications of diabetes 5 9.9
34 fatty liver disease 1 9.9
35 non-alcoholic fatty liver disease 9.9
36 neovascular glaucoma 9.9
37 bap1 tumor predisposition syndrome 9.9
38 atypical werner syndrome 9.9
39 inherited cancer-predisposing syndrome 9.9
40 hyperlipidemia, familial combined, 3 9.9 INS ADIPOQ
41 lipodystrophy, familial partial, type 1 9.9 LMNA AGPAT2
42 amenorrhea 9.9 INS ADIPOQ
43 hyperandrogenism 9.9 INS ADIPOQ
44 sleep apnea 9.9 INS ADIPOQ
45 placenta disease 9.9 INS ADIPOQ
46 berardinelli-seip congenital lipodystrophy 9.9 BSCL2 AGPAT2
47 adiposis dolorosa 9.8 BSCL2 AGPAT2
48 lipodystrophy, congenital generalized, type 4 9.8 BSCL2 AGPAT2
49 familial hyperlipidemia 9.8 INS ADIPOQ
50 lipodystrophy, congenital generalized, type 3 9.8 BSCL2 AGPAT2

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

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

30 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 HP:0002650
2 kyphosis 30 HP:0002808
3 diabetes mellitus 30 HP:0000819
4 hepatomegaly 30 HP:0002240
5 sensorineural hearing impairment 30 HP:0000407
6 flexion contracture 30 HP:0001371
7 hypertriglyceridemia 30 HP:0002155
8 cryptorchidism 30 HP:0000028
9 osteoporosis 30 HP:0000939
10 micrognathia 30 HP:0000347
11 hepatic steatosis 30 HP:0001397
12 elevated hepatic transaminase 30 HP:0002910
13 lipodystrophy 30 HP:0009125
14 dental crowding 30 HP:0000678
15 narrow mouth 30 HP:0000160
16 proptosis 30 HP:0000520
17 convex nasal ridge 30 HP:0000444
18 high pitched voice 30 HP:0001620
19 lack of skin elasticity 30 HP:0100679
20 hypogonadism 30 HP:0000135
21 insulin resistance 30 HP:0000855
22 telangiectasia 30 HP:0001009
23 dermal atrophy 30 HP:0004334
24 scleroderma 30 HP:0100324

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.91 ADIPOQ AGPAT2 BSCL2 INS LMNA
2 endocrine/exocrine gland MP:0005379 9.91 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
3 liver/biliary system MP:0005370 9.88 ADIPOQ AGPAT2 BSCL2 INS LMNA
4 adipose tissue MP:0005375 9.85 ADIPOQ AGPAT2 BSCL2 INS LMNA
5 cellular MP:0005384 9.85 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
6 muscle MP:0005369 9.8 ADIPOQ INS LMNA POLD1
7 immune system MP:0005387 9.8 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
8 digestive/alimentary MP:0005381 9.71 AGPAT2 BSCL2 INS LMNA
9 skeleton MP:0005390 9.65 ADIPOQ AGPAT2 BSCL2 INS LMNA
10 hematopoietic system MP:0005397 9.63 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
11 mortality/aging MP:0010768 9.43 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
12 integument MP:0010771 9.1 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
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 135)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
2
Amprenavir Approved, Investigational Phase 4 161814-49-9 65016
3
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
4
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
5
Nelfinavir Approved Phase 4 159989-64-7 64143
6
Nevirapine Approved Phase 4 129618-40-2 4463
7
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
8
Indinavir Approved Phase 4 150378-17-9 5362440
9
Didanosine Approved Phase 4 69655-05-6 50599
10
Tipranavir Approved, Investigational Phase 4 174484-41-4 65027 54682461
11
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787 441243
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 1115-70-4, 657-24-9 4091
16
Pravastatin Approved Phase 4 81093-37-0 54687
17
Racivir Approved, Investigational Phase 4 143491-57-0, 143491-54-7 60877
18
Insulin glulisine Approved Phase 4 207748-29-6
19
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
20
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
21
Abacavir Approved, Investigational Phase 4 136470-78-5, 188062-50-2 441300
22
Zidovudine Approved Phase 4 30516-87-1 35370
23
Cobicistat Approved Phase 4 1004316-88-4 24950485 25151504
24
Rilpivirine Approved Phase 4 500287-72-9 6451164
25
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
26
Dolutegravir Approved Phase 4 1051375-16-6 57414794 54726191
27
Sorbitol Approved, Investigational Phase 4 69-65-8, 50-70-4 453 6251 5780
28
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
29
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6 1130
30
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 4 83-88-5 493570
31
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 4 461-06-3
32
Tenofovir Experimental, Investigational Phase 4 147127-20-6, 202138-50-9 464205 6398764
33 Atazanavir Sulfate Phase 4
34 Insulin, Globin Zinc Phase 4
35
Insulin Phase 4
36 Liver Extracts Phase 4
37 Anti-Bacterial Agents Phase 4
38 Antitubercular Agents Phase 4
39 Antibiotics, Antitubercular Phase 4
40 Hypoglycemic Agents Phase 4
41 Hormone Antagonists Phase 4
42 Hypolipidemic Agents Phase 4
43 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
44 Lipid Regulating Agents Phase 4
45 Vitamins Phase 4
46 Folate Phase 4
47 Vitamin B9 Phase 4
48 Trace Elements Phase 4
49 Vitamin B Complex Phase 4
50 Micronutrients Phase 4

Interventional clinical trials:

(show top 50) (show all 166)
# Name Status NCT ID Phase Drugs
1 MEDICLAS Study (Metabolic Effects of Different Classes of AntiretroviralS) Unknown status NCT00122226 Phase 4 Lopinavir/ritonavir + zidovudine + lamivudine;Lopinavir/ritonavir + nevirapine
2 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
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 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 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
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 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 Mecahnisms of Lipodystrophy in HIV-Infected Patients Completed NCT00457665 Phase 4 Nelfinavir;Efavirenz
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 The Study of Mechanisms of Lipodystrophy in HIV-Infected Patients Completed NCT00006190 Phase 4 Nelfinavir mesylate;Stavudine;Lamivudine;Efavirenz
11 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
12 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])
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 Metabolic Abnormalities in HIV-infected Persons Completed NCT01612858 Phase 4 Metformin;Pioglitazone
15 Yoga for the Management of HIV-Metabolic Syndromes Completed NCT00627380 Phase 4
16 A Randomised, Double-Blind Study of Pravastatin for the Treatment of Hyperlipidaemia in Patients With HIV Completed NCT00227500 Phase 4 Pravastatin
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 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
19 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
20 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
21 Body Composition and Adipose Tissue in HIV Lipodystrophy: Effects of Tesamorelin Therapy Recruiting NCT03226821 Phase 4 Tesamorelin
22 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
23 Changes in Weight After Switch to Dolutegravir/Lamivudine or Doravirine/Tenofovir/Lamivudine Compared to Continued Treatment With Dolutegravir/Tenofovir/Lamivudine for Virologically Suppressed HIV Infection. AVERTAS-2 Recruiting NCT04903847 Phase 4 Dolutegravir/Lamivudine 50 MG-300 MG Oral Tablet [DOVATO];Doravirine/Lamivudine/Tenofovir Disoproxil Fumarate 100 MG-300 MG-300 MG Oral Tablet [DELSTRIGO]
24 Changes in Weight and Body Composition After Switch to Dolutegravir/Lamivudine Compared to Continued Dolutegravir/Abacavir/Lamivudine for Virologically Suppressed HIV Infection: A Randomized Open-label Superiority Trial: AVERTAS-1 Recruiting NCT04904406 Phase 4 Dolutegravir / Lamivudine Oral Tablet
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 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
27 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
28 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
29 Effects of an Exercise Program on Metabolic Parameters of Patients With a HIV Infection. Unknown status NCT00910936 Phase 2, Phase 3
30 Double-Blind, Placebo-Controlled Trial of Leptin Replacement Therapy in Patients With Lipodystrophy Completed NCT00896298 Phase 2, Phase 3 Leptin;Placebo
31 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
32 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
33 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
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 Multicenter, Double-blind, Randomized, Placebo-controlled Extension Study Assessing the Efficacy and Long-term Safety of a 2 mg Dose of TH9507, a GHRH Analog, in HIV Subjects With Excess Abdominal Fat Accumulation Completed NCT00608023 Phase 3 Tesamorelin;Placebo for Tesamorelin
36 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
37 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
38 Compassionate Use of Metreleptin in Previously-Treated Patients With Generalized Lipodystrophy Recruiting NCT02262832 Phase 3 Metreleptin
39 A 12-Month Randomized, Multicenter, Double-Blind, Placebo-Controlled Phase 3 Study to Evaluate the Safety and Efficacy of Daily Subcutaneous Metreleptin Treatment in Subjects With Partial Lipodystrophy Recruiting NCT05164341 Phase 3 metreleptin;Placebo
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 Active, not recruiting NCT04517253 Phase 2, Phase 3 Baricitinib
41 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) Active, not recruiting NCT04221152 Phase 3 Empagliflozin Tablets
42 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 Active, not recruiting NCT04018365 Phase 3 Empagliflozin Tablets
43 Effect of Berberine on Metabolic Syndrome, Efficacy and Safety in Combination With Antiretroviral Therapy in People Living With HIV. Not yet recruiting NCT04860063 Phase 3 Berberine;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 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 Terminated NCT02527343 Phase 2, Phase 3 volanesorsen;Placebo
46 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
47 Randomized, Double-Blind, Placebo-Controlled Study of the Safety and Efficacy of Recombinant Human Growth Hormone and/or Rosiglitazone in the Treatment of Human Immunodeficiency Virus-Associated Visceral Adiposity and Insulin Resistance Completed NCT00130286 Phase 1, Phase 2 Rosiglitazone;Recombinant human growth hormone + rosiglitazone
48 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
49 An Investigator-Initiated Open-Label, Randomized Study of Gemcabene in Adults With Familial Partial Lipodystrophy Disease (FPLD) Completed NCT03508687 Phase 1, Phase 2 300mg Gemcabene;600mg Gemcabene
50 Therapeutic Approaches to HAART-Induced Lipodystrophy Completed NCT00461552 Phase 2 Leptin

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


metreleptin
Sources

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 Syndrome 28 POLD1
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Anatomical Context for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

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

MalaCards : Skin, Skeletal Muscle, Breast, Liver, Adipocyte, Bone Marrow, Bone
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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 270)
# Title Authors PMID Year
1
An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 57 5
23770608 2013
2
A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism. 62 57
20631028 2010
3
A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient. 62
36280868 2022
4
Eye pain and blurred vision as main complaints in a new case with MDPL syndrome. 62
33863234 2022
5
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. 62
35590056 2022
6
The enigma of persistent hypertriglyceridemia: A case report. 62
35356184 2022
7
Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients. 62
35196257 2022
8
Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene. 62
35620275 2022
9
Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1. 62
34517090 2021
10
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman. 62
33369179 2021
11
Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity. 62
33618333 2021
12
Mutations Involved in Premature-Ageing Syndromes. 62
34103969 2021
13
A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection. 62
32826474 2020
14
Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis. 62
31750734 2020
15
Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene. 62
30388038 2018
16
Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene. 62
29199204 2018
17
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. 62
30023403 2018
18
Atezolizumab: feasible second-line therapy for patients with non-small cell lung cancer? A review of efficacy, safety and place in therapy. 62
29449897 2017
19
Applicability and efficacy of diatom indices in water quality evaluation of the Chambal River in Central India. 62
28940082 2017
20
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL). 62
28521875 2017
21
The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection. 62
28791128 2017
22
POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies. 62
27320729 2016
23
Cytotoxic effects of new MTA-based cement formulations on fibroblast-like MDPL-20 cells. 62
26981755 2016
24
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies. 62
26350127 2015
25
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. 62
26172944 2015
26
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. 62
25131834 2014
27
Reliability and the smallest detectable difference of measurements on 3-dimensional cone-beam computed tomography images. 62
21889058 2011
28
Lipodystrophy, lipid profile changes, and low serum retinol and carotenoid levels in children and adolescents with acquired immunodeficiency syndrome. 53
20116215 2010
29
What have we learned form monogenic forms of severe insulin resistance associated with PCOS/HAIRAN? 53
20362964 2010
30
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. 53
19882644 2010
31
Identification of proteasome gene regulation in a rat model for HIV protease inhibitor-induced hyperlipidemia. 53
20213465 2010
32
Lipoatrophy associated with the use of insulin analogues: a new case associated with the use of insulin glargine and review of the literature. 53
20001763 2010
33
Clinical classification and treatment of congenital and acquired lipodystrophy. 53
20061300 2010
34
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 53
20145110 2010
35
Potential role of IL-18 in the immunopathogenesis of AIDS, HIV-associated lipodystrophy and related clinical conditions. 53
19954415 2010
36
Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency. 53
20097706 2010
37
Rationale for leptin-replacement therapy for severe lipodystrophy. 53
20061299 2010
38
HIV protease inhibitors inhibit FACE1/ZMPSTE24: a mechanism for acquired lipodystrophy in patients on highly active antiretroviral therapy? 53
20074077 2010
39
Endothelial function is impaired in HIV-infected patients with lipodystrophy. 53
20167996 2010
40
Interleukin 18 and cardiovascular disease in HIV-1 infection: a partner in crime? 53
20216908 2010
41
Narrative review: the role of leptin in human physiology: emerging clinical applications. 53
20083828 2010
42
Efficacy of leptin therapy in the different forms of human lipodystrophy. 53
19727665 2010
43
Leptin therapy in lipodystrophy. 53
19802712 2010
44
Adiponectin and leptin levels in Chinese patients with HIV-related lipodystrophy: a 30-month prospective study. 53
20001516 2009
45
Mouse models of inherited lipodystrophy. 53
19892886 2009
46
Leptin deficiency: clinical implications and opportunities for therapeutic interventions. 53
19730134 2009
47
The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. 53
19574402 2009
48
PPARgamma Pro12Ala polymorphism in HIV-1-infected patients with HAART-related lipodystrophy. 53
19534662 2009
49
Inherited lipodystrophies and hypertriglyceridemia. 53
19494770 2009
50
Lipodystrophy in children and adolescents with acquired immunodeficiency syndrome and its relationship with the antiretroviral therapy employed. 53
19668909 2009
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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:

5 (show top 50) (show all 59)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLD1 NM_002691.4(POLD1):c.3199G>A (p.Glu1067Lys) SNV Pathogenic
 1301641 GRCh37: 19:50920507-50920507
GRCh38: 19:50417250-50417250
2 POLD1 NM_002691.4(POLD1):c.1809CTC[1] (p.Ser605del) MICROSAT Pathogenic
 60775 rs398122386 GRCh37: 19:50912075-50912077
GRCh38: 19:50408818-50408820
3 POLD1 NM_002691.4(POLD1):c.3214A>G (p.Thr1072Ala) SNV Likely Pathogenic
 992943 GRCh37: 19:50920522-50920522
GRCh38: 19:50417265-50417265
4 POLD1 NM_002691.4(POLD1):c.3185A>G (p.Gln1062Arg) SNV Conflicting Interpretations Of Pathogenicity
 995953 rs2039339156 GRCh37: 19:50920493-50920493
GRCh38: 19:50417236-50417236
5 POLD1 NM_002691.4(POLD1):c.1930G>A (p.Asp644Asn) SNV Uncertain Significance
 407993 rs763465385 GRCh37: 19:50912416-50912416
GRCh38: 19:50409159-50409159
6 POLD1 NM_002691.4(POLD1):c.343C>T (p.Pro115Ser) SNV Uncertain Significance
 407960 rs754917939 GRCh37: 19:50905061-50905061
GRCh38: 19:50401804-50401804
7 POLD1 NM_002691.4(POLD1):c.652C>T (p.Arg218Cys) SNV Uncertain Significance
 570525 rs1295943468 GRCh37: 19:50905524-50905524
GRCh38: 19:50402267-50402267
8 POLD1 NM_002691.4(POLD1):c.3298G>A (p.Gly1100Arg) SNV Uncertain Significance
 408063 rs1060501837 GRCh37: 19:50921178-50921178
GRCh38: 19:50417921-50417921
9 POLD1 NM_002691.4(POLD1):c.301A>T (p.Ile101Phe) SNV Uncertain Significance
 408120 rs140858857 GRCh37: 19:50902726-50902726
GRCh38: 19:50399469-50399469
10 POLD1 NM_002691.4(POLD1):c.3001G>A (p.Gly1001Ser) SNV Uncertain Significance
 834404 rs550922227 GRCh37: 19:50919914-50919914
GRCh38: 19:50416657-50416657
11 POLD1 NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) SNV Uncertain Significance
 239285 rs141801845 GRCh37: 19:50917075-50917075
GRCh38: 19:50413818-50413818
12 POLD1 NM_002691.4(POLD1):c.232C>T (p.Arg78Cys) SNV Uncertain Significance
 239286 rs141319800 GRCh37: 19:50902657-50902657
GRCh38: 19:50399400-50399400
13 POLD1 NM_002691.4(POLD1):c.203G>A (p.Gly68Glu) SNV Uncertain Significance
 239267 rs144707871 GRCh37: 19:50902628-50902628
GRCh38: 19:50399371-50399371
14 POLD1 NM_002691.4(POLD1):c.34G>A (p.Gly12Arg) SNV Uncertain Significance
 407998 rs772197667 GRCh37: 19:50902142-50902142
GRCh38: 19:50398885-50398885
15 POLD1 NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) SNV Uncertain Significance
 221136 rs41554817 GRCh37: 19:50905989-50905989
GRCh38: 19:50402732-50402732
16 POLD1 NM_002691.4(POLD1):c.1157G>A (p.Arg386His) SNV Uncertain Significance
 239224 rs764023083 GRCh37: 19:50906769-50906769
GRCh38: 19:50403512-50403512
17 POLD1 NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) SNV Uncertain Significance
 484376 rs752444746 GRCh37: 19:50909487-50909487
GRCh38: 19:50406230-50406230
18 POLD1 NM_002691.4(POLD1):c.1294C>G (p.Arg432Gly) SNV Uncertain Significance
 407957 rs774130423 GRCh37: 19:50909490-50909490
GRCh38: 19:50406233-50406233
19 POLD1 NM_002691.4(POLD1):c.1322C>T (p.Thr441Met) SNV Uncertain Significance
 239230 rs376711125 GRCh37: 19:50909518-50909518
GRCh38: 19:50406261-50406261
20 POLD1 NM_002691.4(POLD1):c.1363G>A (p.Val455Met) SNV Uncertain Significance
 407953 rs762670703 GRCh37: 19:50909559-50909559
GRCh38: 19:50406302-50406302
21 POLD1 NM_002691.4(POLD1):c.1516C>T (p.Arg506Cys) SNV Uncertain Significance
 486073 rs528292347 GRCh37: 19:50910261-50910261
GRCh38: 19:50407004-50407004
22 POLD1 NM_002691.4(POLD1):c.2290G>A (p.Gly764Ser) SNV Uncertain Significance
 239281 rs148838746 GRCh37: 19:50917038-50917038
GRCh38: 19:50413781-50413781
23 POLD1 NM_002691.4(POLD1):c.2563C>T (p.Arg855Ter) SNV Uncertain Significance
 407990 rs768048535 GRCh37: 19:50918246-50918246
GRCh38: 19:50414989-50414989
24 POLD1 NM_002691.4(POLD1):c.2760C>G (p.Asp920Glu) SNV Uncertain Significance
 469296 rs1057521209 GRCh37: 19:50919023-50919023
GRCh38: 19:50415766-50415766
25 POLD1 NM_002691.4(POLD1):c.2861C>G (p.Thr954Arg) SNV Uncertain Significance
 239314 rs374016016 GRCh37: 19:50919693-50919693
GRCh38: 19:50416436-50416436
26 POLD1 NM_002691.4(POLD1):c.208G>T (p.Val70Phe) SNV Uncertain Significance
 225288 rs147911699 GRCh37: 19:50902633-50902633
GRCh38: 19:50399376-50399376
27 POLD1 NM_002691.4(POLD1):c.223A>G (p.Ile75Val) SNV Uncertain Significance
 408088 rs940296193 GRCh37: 19:50902648-50902648
GRCh38: 19:50399391-50399391
28 POLD1 NM_002691.4(POLD1):c.245C>T (p.Pro82Leu) SNV Uncertain Significance
 239294 rs201006221 GRCh37: 19:50902670-50902670
GRCh38: 19:50399413-50399413
29 POLD1 NM_002691.4(POLD1):c.965G>A (p.Arg322His) SNV Uncertain Significance
 421222 rs980303681 GRCh37: 19:50905993-50905993
GRCh38: 19:50402736-50402736
30 POLD1 NM_002691.4(POLD1):c.1384-10A>C SNV Uncertain Significance
 931289 rs2038883338 GRCh37: 19:50909654-50909654
GRCh38: 19:50406397-50406397
31 POLD1 NM_002691.4(POLD1):c.2221G>A (p.Val741Met) SNV Uncertain Significance
 932036 rs2039160475 GRCh37: 19:50916749-50916749
GRCh38: 19:50413492-50413492
32 POLD1 NM_002691.4(POLD1):c.2623C>T (p.Arg875Cys) SNV Uncertain Significance
 439256 rs751565067 GRCh37: 19:50918753-50918753
GRCh38: 19:50415496-50415496
33 POLD1 NM_002691.4(POLD1):c.1055G>T (p.Arg352Leu) SNV Uncertain Significance
 469170 rs556862476 GRCh37: 19:50906394-50906394
GRCh38: 19:50403137-50403137
34 POLD1 NM_002691.4(POLD1):c.353C>T (p.Ser118Phe) SNV Uncertain Significance
 239345 rs780604625 GRCh37: 19:50905071-50905071
GRCh38: 19:50401814-50401814
35 POLD1 NM_002691.4(POLD1):c.1711C>G (p.Pro571Ala) SNV Uncertain Significance
 1341327 GRCh37: 19:50910608-50910608
GRCh38: 19:50407351-50407351
36 POLD1 NM_002691.4(POLD1):c.496C>T (p.Arg166Trp) SNV Uncertain Significance
 221171 rs376236497 GRCh37: 19:50905288-50905288
GRCh38: 19:50402031-50402031
37 POLD1 NM_002691.4(POLD1):c.713C>T (p.Thr238Met) SNV Uncertain Significance
 246444 rs553342844 GRCh37: 19:50905585-50905585
GRCh38: 19:50402328-50402328
38 POLD1 NM_002691.4(POLD1):c.866A>G (p.Asp289Gly) SNV Uncertain Significance
 239371 rs878854558 GRCh37: 19:50905894-50905894
GRCh38: 19:50402637-50402637
39 POLD1 NM_002691.4(POLD1):c.1717G>T (p.Val573Leu) SNV Uncertain Significance
 469213 rs760616076 GRCh37: 19:50910614-50910614
GRCh38: 19:50407357-50407357
40 POLD1 NM_002691.4(POLD1):c.1867C>T (p.Arg623Trp) SNV Uncertain Significance
 469225 rs768773535 GRCh37: 19:50912133-50912133
GRCh38: 19:50408876-50408876
41 POLD1 NM_002691.4(POLD1):c.2197C>G (p.Gln733Glu) SNV Uncertain Significance
 573996 rs1471359934 GRCh37: 19:50916725-50916725
GRCh38: 19:50413468-50413468
42 POLD1 NM_002691.4(POLD1):c.2467C>T (p.Arg823Cys) SNV Uncertain Significance
 407966 rs376946722 GRCh37: 19:50918150-50918150
GRCh38: 19:50414893-50414893
43 POLD1 NM_002691.4(POLD1):c.3167C>T (p.Thr1056Met) SNV Uncertain Significance
 421647 rs772397517 GRCh37: 19:50920475-50920475
GRCh38: 19:50417218-50417218
44 POLD1 NM_002691.4(POLD1):c.497G>A (p.Arg166Gln) SNV Likely Benign
 239350 rs750144413 GRCh37: 19:50905289-50905289
GRCh38: 19:50402032-50402032
45 POLD1 NM_002691.4(POLD1):c.2954-39A>G SNV Benign
 1245273 GRCh37: 19:50919828-50919828
GRCh38: 19:50416571-50416571
46 POLD1 NM_002691.4(POLD1):c.202+21T>C SNV Benign
 1292424 GRCh37: 19:50902331-50902331
GRCh38: 19:50399074-50399074
47 POLD1 NM_002691.4(POLD1):c.1485C>T (p.Thr495=) SNV Benign
 258787 rs2230245 GRCh37: 19:50909765-50909765
GRCh38: 19:50406508-50406508
48 POLD1 NM_002691.4(POLD1):c.2953+12C>T SNV Benign
 258788 rs3218776 GRCh37: 19:50919797-50919797
GRCh38: 19:50416540-50416540
49 POLD1 NM_002691.4(POLD1):c.463+8G>T SNV Benign
 371890 rs1726802 GRCh37: 19:50905189-50905189
GRCh38: 19:50401932-50401932
50 POLD1 NM_002691.4(POLD1):c.324G>A (p.Ala108=) SNV Benign
 380219 rs20582 GRCh37: 19:50905042-50905042
GRCh38: 19:50401785-50401785
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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
Glucose / Energy Metabolism 3
11.74 INS BSCL2 AGPAT2 ADIPOQ
2
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.38 INS ADIPOQ
3
Overlap between signal transduction pathways contributing to LMNA laminopathies 74
Show member pathways
 11.34 LMNA ADIPOQ
4
Adipogenesis 74
11.14 LMNA INS BSCL2 AGPAT2 ADIPOQ
5
Nonalcoholic fatty liver disease 74
10.98 INS ADIPOQ
6
Progeria-associated lipodystrophy 74
Show member pathways
 10.6 POLD1 LMNA
7
Congenital generalized lipodystrophy 74
10.39 BSCL2 AGPAT2
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GO Terms for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

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

# Name GO ID Score Top Affiliating Genes
1 glucose metabolic process GO:0006006 9.62 INS ADIPOQ
2 positive regulation of glucose import GO:0046326 9.56 INS ADIPOQ
3 negative regulation of lipid catabolic process GO:0050995 9.46 INS BSCL2
4 negative regulation of gluconeogenesis GO:0045721 9.26 INS ADIPOQ
5 fatty acid homeostasis GO:0055089 8.92 POLD1 INS
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Sources for Mandibular Hypoplasia, Deafness, Progeroid Features, and...

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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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