MDPS
MCID: MND031
MIFTS: 33

Mandibuloacral Dysplasia Progeroid Syndrome (MDPS)

Categories: Genetic diseases

Aliases & Classifications for Mandibuloacral Dysplasia Progeroid Syndrome

MalaCards integrated aliases for Mandibuloacral Dysplasia Progeroid Syndrome:

Name: Mandibuloacral Dysplasia Progeroid Syndrome 57 6
Progeroid Mandibuloacral Dysplasia 6
Mdps 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
mandibuloacral dysplasia progeroid syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset childhood onset death in childhood


Classifications:



Summaries for Mandibuloacral Dysplasia Progeroid Syndrome

OMIM® : 57 Mandibuloacral dysplasia progeroid syndrome (MDPS) is an autosomal recessive severe laminopathy-like disorder characterized by growth retardation, bone resorption, arterial calcification, renal glomerulosclerosis, and hypertension (Elouej et al., 2020). (619127) (Updated 05-Apr-2021)

MalaCards based summary : Mandibuloacral Dysplasia Progeroid Syndrome, also known as progeroid mandibuloacral dysplasia, is related to macular degeneration, age-related, 1. An important gene associated with Mandibuloacral Dysplasia Progeroid Syndrome is MTX2 (Metaxin 2). The drugs Prednisolone acetate and Prednisolone have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and thyroid, and related phenotypes are frontal bossing and high palate

Related Diseases for Mandibuloacral Dysplasia Progeroid Syndrome

Diseases related to Mandibuloacral Dysplasia Progeroid Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 macular degeneration, age-related, 1 10.0

Symptoms & Phenotypes for Mandibuloacral Dysplasia Progeroid Syndrome

Human phenotypes related to Mandibuloacral Dysplasia Progeroid Syndrome:

31 (show top 50) (show all 55)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 very rare (1%) HP:0002007
2 high palate 31 very rare (1%) HP:0000218
3 osteopenia 31 very rare (1%) HP:0000938
4 hepatomegaly 31 very rare (1%) HP:0002240
5 depressed nasal bridge 31 very rare (1%) HP:0005280
6 joint stiffness 31 very rare (1%) HP:0001387
7 short stature 31 very rare (1%) HP:0004322
8 flexion contracture 31 very rare (1%) HP:0001371
9 proteinuria 31 very rare (1%) HP:0000093
10 brachycephaly 31 very rare (1%) HP:0000248
11 hypertriglyceridemia 31 very rare (1%) HP:0002155
12 genu valgum 31 very rare (1%) HP:0002857
13 postnatal growth retardation 31 very rare (1%) HP:0008897
14 micrognathia 31 very rare (1%) HP:0000347
15 glucose intolerance 31 very rare (1%) HP:0001952
16 elevated hepatic transaminase 31 very rare (1%) HP:0002910
17 pectus excavatum 31 very rare (1%) HP:0000767
18 mitral regurgitation 31 very rare (1%) HP:0001653
19 left ventricular hypertrophy 31 very rare (1%) HP:0001712
20 mitral valve calcification 31 very rare (1%) HP:0004382
21 narrow mouth 31 very rare (1%) HP:0000160
22 sandal gap 31 very rare (1%) HP:0001852
23 long philtrum 31 very rare (1%) HP:0000343
24 short philtrum 31 very rare (1%) HP:0000322
25 bulbous nose 31 very rare (1%) HP:0000414
26 high forehead 31 very rare (1%) HP:0000348
27 hypodontia 31 very rare (1%) HP:0000668
28 high pitched voice 31 very rare (1%) HP:0001620
29 triangular face 31 very rare (1%) HP:0000325
30 underdeveloped nasal alae 31 very rare (1%) HP:0000430
31 delayed cranial suture closure 31 very rare (1%) HP:0000270
32 supernumerary ribs 31 very rare (1%) HP:0005815
33 sparse hair 31 very rare (1%) HP:0008070
34 deep palmar crease 31 very rare (1%) HP:0006191
35 nail dystrophy 31 very rare (1%) HP:0008404
36 sparse eyebrow 31 very rare (1%) HP:0045075
37 tricuspid regurgitation 31 very rare (1%) HP:0005180
38 thin ribs 31 very rare (1%) HP:0000883
39 generalized hypotonia 31 very rare (1%) HP:0001290
40 palmoplantar hyperkeratosis 31 very rare (1%) HP:0000972
41 poikiloderma 31 very rare (1%) HP:0001029
42 short femoral neck 31 very rare (1%) HP:0100864
43 j-shaped sella turcica 31 very rare (1%) HP:0002680
44 progeroid facial appearance 31 very rare (1%) HP:0005328
45 generalized lipodystrophy 31 very rare (1%) HP:0009064
46 patent foramen ovale 31 very rare (1%) HP:0001655
47 osteolytic defects of the phalanges of the hand 31 very rare (1%) HP:0009771
48 shallow orbits 31 very rare (1%) HP:0000586
49 elevated hemoglobin a1c 31 very rare (1%) HP:0040217
50 focal segmental glomerulosclerosis 31 very rare (1%) HP:0000097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
osteopenia
osteoporosis

Skeletal Limbs:
hip dysplasia
clavicular hypoplasia

Genitourinary Kidneys:
proteinuria
focal glomerulosclerosis (1 patient)

Cardiovascular Heart:
mitral valve prolapse
left ventricular hypertrophy

Skin Nails Hair Nails:
nail dystrophy

Skin Nails Hair Skin:
poikiloderma
hyperpigmentation
atrophic skin
hypopigmentation
palmoplantar hyperkeratosis (1 patient)

Neurologic Central Nervous System:
developmental delay

Growth Height:
poor growth

Growth Weight:
poor weight gain

Head And Neck Eyes:
exophthalmia
deep set eyes
corneal opacities (1 patient)

Abdomen Liver:
hepatomegaly
steatosis

Head And Neck Head:
microcephaly

Skin Nails Hair Hair:
alopecia
sparse hair
hypopigmented hair
sparse eyebrows

Head And Neck Mouth:
long philtrum
small mouth
mandibular hypoplasia
mandibular recession

Head And Neck Teeth:
amelogenesis imperfecta

Muscle Soft Tissue:
hypotonia

Skeletal Hands:
acroosteolysis of distal phalanges

Respiratory Lung:
recurrent pulmonary infections

Skeletal Skull:
delayed closure of cranial sutures

Clinical features from OMIM®:

619127 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mandibuloacral Dysplasia Progeroid Syndrome

Drugs for Mandibuloacral Dysplasia Progeroid Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 60)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
2
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
6
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
7 Gastrointestinal Agents Phase 4
8 Methylene diphosphonate Phase 4
9 Hormones Phase 4
10 Diphosphonates Phase 4
11 Neuroprotective Agents Phase 4
12 Antiemetics Phase 4
13 Hormone Antagonists Phase 4
14 glucocorticoids Phase 4
15 Methylprednisolone Acetate Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Protective Agents Phase 4
18 Technetium Tc 99m Medronate Phase 4
19 Radiopharmaceuticals Phase 4
20
sodium fluoride Approved Phase 3 7681-49-4
21 Fluorides Phase 3
22 Listerine Phase 3
23
Trastuzumab Approved, Investigational Phase 1 180288-69-1 9903
24
Pertuzumab Approved Phase 1 380610-27-5, 145040-37-5 2540
25 Mitogens Phase 1
26 Immunologic Factors Phase 1
27 Vaccines Phase 1
28
Alendronate Approved 121268-17-5, 66376-36-1 2088
29
Calcium carbonate Approved, Investigational 471-34-1
30
Frovatriptan Approved, Investigational 158747-02-5 77992
31
Celecoxib Approved, Investigational 169590-42-5 2662
32
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
33
Vitamin D3 Approved, Nutraceutical 67-97-0 5280795 6221
34
Inulin Approved, Investigational, Nutraceutical 9005-80-5 24763
35 Anti-Infective Agents, Local
36 Anti-Infective Agents
37 Fluorodeoxyglucose F18
38 Nutrients
39 Micronutrients
40 Trace Elements
41 Vitamins
42 Antacids
43 Calciferol
44 Calcium, Dietary
45 Anti-Ulcer Agents
46 Serotonin Receptor Agonists
47 Neurotransmitter Agents
48 Anti-Inflammatory Agents
49 Analgesics, Non-Narcotic
50 Cyclooxygenase 2 Inhibitors

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 A Double-masked, Methylprednisolone-control, Efficacy and Safety Study of 99Tc-MDP for Thyroid Associated Ophthalmopathy. Completed NCT03948191 Phase 4 Methylprednisolone;99Tc-MDP(99Technetium-Methylenediphosphonate Injection)
2 Biokinetics Study for Tc-99m MDP for Dose Reduction in Pediatric Molecular Imaging Enrolling by invitation NCT03107247 Phase 4 Tc-99M MDP
3 18F-Fluoride PET/CT Versus 99mTc-MDP Scanning for Detecting Bone Metastases: A Randomized, Multi-Center Trial to Compare Two Bone Imaging Techniques Unknown status NCT00882609 Phase 3
4 A Novel 18F-DCFPyL PET-CT Scan for Diagnosis and Management of Prostate Cancer Unknown status NCT03852654 Phase 2, Phase 3 18F-DCFPyL
5 Phase I Active Immunotherapy Trial With a Combination of Two Chimeric (Trastuzumab-like and Pertuzumab-like)Human Epidermal Growth Factor Receptor 2 (HER-2) B Cell Peptide Vaccine Emulsified in ISA 720 and Nor-MDP Adjuvant in Patients With Advanced Solid Tumors Recruiting NCT01376505 Phase 1
6 Assessment of Multi-Modality Quantitative Imaging for Evaluation of Response of Metastatic Prostate Cancer to Therapy Recruiting NCT03619655 Phase 1 18F-DCFPyL PET/CT;18F-NaF PET/CT
7 The Effectiveness of Whole-body 18F-NaF PET in Detecting Metastatic Bone Lesion for Patients With Cancer: A Comparison Study With 99mTc-MDP Bone Scintigraphy. Unknown status NCT00414934
8 The Diagnostic Performance of Skeletal 99mTc-MDP SPECT/CT in Patients With Low Back Pain Unknown status NCT03298854
9 The Role of Tc 99m MDP SPECT/CT in Osteoarthritis Unknown status NCT03290807
10 An Observational Pilot Study of 18F-Sodium Fluoride (Na18F) Whole Body PET Scans in Patients for Whom 99m Tc MDP Bone Scans Would Normally be Indicated. Unknown status NCT00922519
11 Radiation Exposure Awareness From Patients Undergoing Nuclear Medicine Diagnostic 99mTc-MDP Bone Scans and 18F-FDG PET/CT Scans Unknown status NCT03458585
12 A Randomised Controlled Trial Investigating the Feasibility of a Multi-domain Intervention to Increase Mediterranean Diet (MedDiet) Score and Physical Activity (PA) of Older UK Adults Who Are at Above Average Risk of Dementia Unknown status NCT03673722
13 Effect of Cap-assisted Esophagogastroduodenoscopy on Observation of Major Duodenal Papilla: a Randomized Non-inferiority Trial Completed NCT03219619
14 Prospective Trial of 99Tc-MDP and Alendronate Sodium in Postmenopausal Women With Differentiated Thyroid Cancer and Decrease in Bone Mineral Density Treated With Supraphysiological Doses of Thyroid Hormone Completed NCT02304757 99Tc-MDP;fosamax;Caltrate
15 18F-NaF-PET/MR vs 99mTc-MDP-SPECT/CT to Detect Bone Metastases in Prostate Cancer Patients. Completed NCT02969564
16 18F-Fluoride PET Bone Scans Versus Traditional 99mTc-MDP Gamma Camera Bone Scans for the Diagnosis of Bone Metastases: a Blinded, Prospective Trial Completed NCT01254929
17 99Tc-MDP Versus Celecoxib Treatment in Patients With Knee Osteoarthritis Recruiting NCT02993029 99Tc-MDP;Celecoxib
18 Das Multidimensionale Dyspnoe Profil (MDP) Bei COPD, Herzinsuffizienz Und Schlafapnoe Recruiting NCT04090671
19 Influence of Prebiotics on Intestinal Permeability in First Degree Relatives of Crohn's Patients Recruiting NCT03950336
20 Work Productivity in Hyperventilation Syndrome Recruiting NCT03292523
21 Multidimensional Assessment of Dyspnea in Asthma Recruiting NCT04286906
22 Clinical Performance of Adhesive Systems Containing HEMA and 10-MDP in Non Carious Cervical Lesions - A Two Years Randomized Double Blind Study Active, not recruiting NCT04756349
23 Prospective Comparison of Pelvic CT or MRI Plus Bone Scanning With 99mTc-MDP Bone Scan and/or 18F-NaF PET/CT to 18F- Fluciclovine PET/CT in VA Prostate Cancer Patients With BCR. Enrolling by invitation NCT03527199
24 Nutritional Assessment and Impact of the Mediterranean Diet on Patients With Inflammatory Bowel Disease Not yet recruiting NCT04552158
25 Prevalence of the Hyperventilation Syndrome in Pulmonary Arterial Hypertension Not yet recruiting NCT03810443

Search NIH Clinical Center for Mandibuloacral Dysplasia Progeroid Syndrome

Genetic Tests for Mandibuloacral Dysplasia Progeroid Syndrome

Anatomical Context for Mandibuloacral Dysplasia Progeroid Syndrome

MalaCards organs/tissues related to Mandibuloacral Dysplasia Progeroid Syndrome:

40
Bone, Prostate, Thyroid, Bone Marrow, Brain, Monocytes, Retina

Publications for Mandibuloacral Dysplasia Progeroid Syndrome

Articles related to Mandibuloacral Dysplasia Progeroid Syndrome:

(show top 50) (show all 190)
# Title Authors PMID Year
1
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. 57 6
32917887 2020
2
Designed leucine-rich repeat proteins bind two muramyl dipeptide ligands. 61
33512005 2021
3
Prognostic plasma exosomal microRNA biomarkers in patients with substance use disorders presenting comorbid with anxiety and depression. 61
33737514 2021
4
Solution structure of multi-domain protein ER-60 studied by aggregation-free SAXS and coarse-grained-MD simulation. 61
33707747 2021
5
Sandwiched-fusion strategy facilitates recombinant production of small labile proteins. 61
33433908 2021
6
Morphology, crystalline structure and digestibility of debranched starch nanoparticles varying in average degree of polymerization and fabrication methods. 61
33483014 2021
7
Oxidative Damage? Not a Problem! The Characterization of Humanin-like Mitochondrial Peptide in Anoxia Tolerant Freshwater Turtles. 61
33387248 2021
8
HMM-Based Fuzzy Control for Nonlinear Markov Jump Singularly Perturbed Systems With General Transition and Mode Detection Information. 61
33566782 2021
9
In situ mapping identifies distinct vascular niches for myelopoiesis. 61
33568812 2021
10
Optimal Transmit Power Allocation for an Energy-Harvesting Sensor in Wireless Cyber-Physical Systems. 61
31545762 2021
11
Expression Profile of Mouse Gm20594, Nuclear-Encoded Humanin-Like Gene. 61
33763338 2021
12
Self-assembling multidomain peptide hydrogels accelerate peripheral nerve regeneration after crush injury. 61
33002786 2021
13
An enriched biosignature of gut microbiota-dependent metabolites characterizes maternal plasma in a mouse model of fetal alcohol spectrum disorder. 61
33420159 2021
14
Potential destination of Brazilian cocoa agro-industrial wastes for production of materials with high added value. 61
32889232 2020
15
Deep-DRM: a computational method for identifying disease-related metabolites based on graph deep learning approaches. 61
33048110 2020
16
Mitochondrial-derived peptides in energy metabolism. 61
32776825 2020
17
Mechanisms of protection of retinal pigment epithelial cells from oxidant injury by humanin and other mitochondrial-derived peptides: Implications for age-related macular degeneration. 61
32768357 2020
18
Peptides derived from small mitochondrial open reading frames: Genomic, biological, and therapeutic implications. 61
32387288 2020
19
Safety-Guaranteed, Accelerated Learning in MDPs with Local Side Information. 61
33223606 2020
20
Position-wise binding preference is important for miRNA target site prediction. 61
32186709 2020
21
Effects of MOTS-c on the mitochondrial function of cells harboring 3243 A to G mutant mitochondrial DNA. 61
32279209 2020
22
Scenario-Based Verification of Uncertain MDPs. 61
32754724 2020
23
Effects of Mitochondrial-Derived Peptides (MDPs) on Mitochondrial and Cellular Health in AMD. 61
32365540 2020
24
Mitonuclear genomics and aging. 61
31997134 2020
25
Extension of the Quantum Universal Exchange Language to precision medicine and drug lead discovery. Preliminary example studies using the mitochondrial genome. 61
32072972 2020
26
Myeloid Neoplasms with Elevated Plasmacytoid Dendritic Cell Differentiation Reflect the Maturation Process of Dendritic Cells. 61
31876105 2020
27
Humanin induces conformational changes in the apoptosis regulator BAX and sequesters it into fibers, preventing mitochondrial outer-membrane permeabilization. 61
31690630 2019
28
Reduced skeletal muscle expression of mitochondrial-derived peptides humanin and MOTS-C and Nrf2 in chronic kidney disease. 61
31432706 2019
29
Oxidative stress induces different tissue dependent effects on Mutyh-deficient mice. 61
31505270 2019
30
A Microwave-Induced Thermoacoustic Imaging System With Non-Contact Ultrasound Detection. 61
31251184 2019
31
The Mitochondrial Peptide Humanin Targets but Does Not Denature Amyloid Oligomers in Type II Diabetes. 61
31456396 2019
32
The role of mitochondria-derived peptides in cardiovascular disease: Recent updates. 61
31185388 2019
33
Source localization for gastric electrical activity using simulated magnetogastrographic data. 61
31946368 2019
34
Metabolomic profile of diet-induced obesity mice in response to humanin and small humanin-like peptide 2 treatment. 61
31172328 2019
35
Effects of air pollution on mitochondrial function, mitochondrial DNA methylation, and mitochondrial peptide expression. 61
30980914 2019
36
Controlled armoring of metal surfaces with metallodielectric patchy particles. 61
31067877 2019
37
Transtrochanteric rotational osteotomy for various hip disorders. 61
30554936 2019
38
Application of marine-derived polysaccharides as immunostimulants in aquaculture: A review of current knowledge and further perspectives. 61
30599257 2019
39
Mitochondrial-derived peptide humanin as therapeutic target in cancer and degenerative diseases. 61
30582721 2019
40
MOO-MDP: An Object-Oriented Representation for Cooperative Multiagent Reinforcement Learning. 61
29990289 2019
41
Mitochondrial-Derived Peptides Are Down Regulated in Diabetes Subjects. 61
31214116 2019
42
Purification, chemical characterization and antioxidant activities of polysaccharides isolated from Mycena dendrobii. 61
30318234 2019
43
[The underestimated coding potential of mitochondrial DNA]. 61
30672456 2019
44
Context/Resource-Aware Mission Planning Based on BNs and Concurrent MDPs for Autonomous UAVs. 61
30518110 2018
45
Extracellular hydrogen peroxide measurements using a flow injection system in combination with microdialysis probes - Potential and challenges. 61
29860128 2018
46
Free-energy minimization in joint agent-environment systems: A niche construction perspective. 61
30012517 2018
47
Characterizing the protective effects of SHLP2, a mitochondrial-derived peptide, in macular degeneration. 61
30310092 2018
48
Engineered bidirectional promoters enable rapid multi-gene co-expression optimization. 61
30181586 2018
49
Robust path planning for flexible needle insertion using Markov decision processes. 61
29752637 2018
50
Sensitivity-Based Fault Detection and Isolation Algorithm for Road Vehicle Chassis Sensors. 61
30126208 2018

Variations for Mandibuloacral Dysplasia Progeroid Syndrome

ClinVar genetic disease variations for Mandibuloacral Dysplasia Progeroid Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MTX2 NM_006554.5(MTX2):c.2T>A (p.Met1Lys) SNV Pathogenic 805937 rs1392596720 GRCh37: 2:177134359-177134359
GRCh38: 2:176269631-176269631
2 MTX2 NM_006554.5(MTX2):c.603del (p.Tyr202fs) Deletion Pathogenic 805940 rs1575062987 GRCh37: 2:177195371-177195371
GRCh38: 2:176330643-176330643
3 MTX2 NM_006554.5(MTX2):c.2T>A (p.Met1Lys) SNV Pathogenic 805937 rs1392596720 GRCh37: 2:177134359-177134359
GRCh38: 2:176269631-176269631
4 MTX2 NM_006554.5(MTX2):c.603del (p.Tyr202fs) Deletion Pathogenic 805940 rs1575062987 GRCh37: 2:177195371-177195371
GRCh38: 2:176330643-176330643
5 MTX2 NM_006554.5(MTX2):c.208+3_208+6del Deletion Pathogenic 805938 rs1575058847 GRCh37: 2:177188193-177188196
GRCh38: 2:176323465-176323468
6 MTX2 NM_006554.5(MTX2):c.544-1G>C SNV Pathogenic 805939 rs1575062905 GRCh37: 2:177195311-177195311
GRCh38: 2:176330583-176330583
7 MTX2 NM_006554.5(MTX2):c.544-1G>C SNV Pathogenic 805939 rs1575062905 GRCh37: 2:177195311-177195311
GRCh38: 2:176330583-176330583
8 MTX2 NM_006554.5(MTX2):c.208+3_208+6del Deletion Pathogenic 805938 rs1575058847 GRCh37: 2:177188193-177188196
GRCh38: 2:176323465-176323468
9 MTX2 NM_006554.5(MTX2):c.293_294CT[1] (p.Ser98_Leu99insTer) Microsatellite Pathogenic 827676 GRCh37: 2:177193027-177193028
GRCh38: 2:176328299-176328300

Expression for Mandibuloacral Dysplasia Progeroid Syndrome

Search GEO for disease gene expression data for Mandibuloacral Dysplasia Progeroid Syndrome.

Pathways for Mandibuloacral Dysplasia Progeroid Syndrome

GO Terms for Mandibuloacral Dysplasia Progeroid Syndrome

Sources for Mandibuloacral Dysplasia Progeroid Syndrome

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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