MDPL
MCID: MND021
MIFTS: 54

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

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

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

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

Name: Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 57 75 29 6
Lipodystrophy 44 73
Mdpl 57 75
Hypoplasia, Mandibular, Deafness, Progeroid Features, and Lipodystrophy Syndrome 40
Andibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 73
Mandibular Hypoplasia-Hearing Loss-Progeroid Syndrome 59
Mandibular Hypoplasia-Deafness-Progeroid Syndrome 59
Mdp Syndrome 59

Characteristics:

Orphanet epidemiological data:

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

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



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

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome, also known as lipodystrophy, is related to lipodystrophy, familial partial, type 1 and lipodystrophy, congenital generalized, type 3, 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 Type II diabetes mellitus. Affiliated tissues include skin, liver and eye, and related phenotypes are diabetes mellitus and scoliosis

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

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

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

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, familial partial, type 1 34.0 INS LMNA
2 lipodystrophy, congenital generalized, type 3 33.8 AGPAT2 BSCL2
3 lipodystrophy, congenital generalized, type 2 33.7 AGPAT2 BSCL2 LMNA
4 lipodystrophy, familial partial, type 2 33.7 AGPAT2 INS LMNA
5 lipodystrophy, familial partial, type 3 33.6 AGPAT2 BSCL2 LMNA
6 congenital generalized lipodystrophy 33.6 AGPAT2 BSCL2 LMNA
7 lipodystrophy, congenital generalized, type 4 33.4 ADIPOQ AGPAT2 BSCL2 LMNA
8 proteasome-associated autoinflammatory syndrome 1 33.3 ADIPOQ INS
9 familial partial lipodystrophy 33.2 AGPAT2 BSCL2 INS LMNA
10 berardinelli-seip congenital lipodystrophy 33.1 AGPAT2 BSCL2
11 lipodystrophy, congenital generalized, type 1 33.0 ADIPOQ AGPAT2 BSCL2 INS LMNA
12 acquired generalized lipodystrophy 33.0 ADIPOQ AGPAT2 BSCL2 INS LMNA
13 complete generalized lipodystrophy 32.6 AGPAT2 BSCL2 INS LMNA
14 fatty liver disease 30.2 ADIPOQ INS
15 fatty liver disease, nonalcoholic 1 30.2 ADIPOQ INS
16 sleep apnea 29.9 ADIPOQ INS
17 nonalcoholic steatohepatitis 29.8 ADIPOQ INS
18 acanthosis nigricans 29.8 ADIPOQ INS LMNA
19 nonalcoholic fatty liver disease 29.6 ADIPOQ INS
20 monogenic diabetes 29.6 BSCL2 INS
21 diabetes mellitus, noninsulin-dependent 29.4 ADIPOQ INS LMNA
22 lipodystrophy, partial, acquired 12.7
23 localized lipodystrophy 12.6
24 marfan lipodystrophy syndrome 12.6
25 lipodystrophy, familial partial, type 4 12.5
26 lipodystrophy, familial partial, type 5 12.5
27 lipodystrophy, familial partial, type 6 12.5
28 mandibuloacral dysplasia with type a lipodystrophy 12.5
29 mandibuloacral dysplasia with type b lipodystrophy 12.4
30 partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome 12.3
31 encephalopathy, progressive, with or without lipodystrophy 12.3
32 lipodystrophy, partial, acquired, with low complement component c3, with or without glomerulonephritis 12.3
33 familial partial lipodystrophy due to akt2 mutations 12.2
34 generalized lipodystrophy-associated progeroid syndrome 12.1
35 panniculitis-induced localized lipodystrophy 12.0
36 short syndrome 12.0
37 lipodystrophy, generalized, with mental retardation, deafness, short stature, and slender bones 11.9
38 lipodystrophy due to peptidic growth factors deficiency 11.9
39 keppen-lubinsky syndrome 11.8
40 whipple disease 11.6
41 lipomatosis, multiple symmetric 11.5
42 growth factors, combined defect of 11.3
43 peritonitis 11.3
44 igg4-related mesenteritis 11.3
45 stiff skin syndrome 11.2
46 analbuminemia 11.1
47 autoinflammation, panniculitis, and dermatosis syndrome 11.1
48 proteasome-associated autoinflammatory syndrome 3 11.1
49 hutchinson-gilford progeria syndrome 10.9
50 lipase deficiency, combined 10.9

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



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

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

Symptoms via clinical synopsis from OMIM:

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

Abdomen Liver:
hepatomegaly
hepatic steatosis

Laboratory Abnormalities:
hypertriglyceridemia
abnormal liver function tests

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

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

Chest Breasts:
poor breast development (in women)

Skeletal Spine:
scoliosis
kyphosis

Skeletal:
osteoporosis
joint contractures

Genitourinary Internal Genitalia Male:
cryptorchidism

Growth Weight:
normal birth weight

Head And Neck Mouth:
small mouth

Voice:
high-pitched voice

Head And Neck Eyes:
prominent eyes

Head And Neck Ears:
sensorineural deafness


Clinical features from OMIM:

615381

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

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

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


decreased adipose tissue

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

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.93 ADIPOQ AGPAT2 BSCL2 INS LMNA
2 endocrine/exocrine gland MP:0005379 9.93 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
3 behavior/neurological MP:0005386 9.92 ADIPOQ AGPAT2 BSCL2 INS LMNA
4 cardiovascular system MP:0005385 9.91 ADIPOQ BSCL2 INS LMNA POLD1
5 hematopoietic system MP:0005397 9.91 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
6 cellular MP:0005384 9.89 ADIPOQ BSCL2 INS LMNA POLD1
7 immune system MP:0005387 9.88 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
8 integument MP:0010771 9.85 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
9 digestive/alimentary MP:0005381 9.78 AGPAT2 BSCL2 INS LMNA
10 mortality/aging MP:0010768 9.73 ADIPOQ AGPAT2 BSCL2 INS LMNA POLD1
11 liver/biliary system MP:0005370 9.72 ADIPOQ AGPAT2 BSCL2 INS LMNA
12 muscle MP:0005369 9.46 ADIPOQ INS LMNA POLD1
13 renal/urinary system MP:0005367 9.35 ADIPOQ AGPAT2 BSCL2 INS LMNA
14 skeleton MP:0005390 9.02 ADIPOQ AGPAT2 BSCL2 INS LMNA

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

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: lipodystrophy

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

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

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

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

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

41
Skin, Liver, Eye, Bone, Kidney, Testes, Brain

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

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

(show top 50) (show all 263)
# Title Authors Year
1
Beneficial effects of leptin substitution on impaired eating behavior in lipodystrophy are sustained beyond 150 weeks of treatment. ( 30539782 )
2019
2
Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy. ( 30283460 )
2018
3
Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects. ( 30208912 )
2018
4
Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants. ( 30266686 )
2018
5
Post Mortem Findings in a Young Male with Congenital Generalized Lipodystrophy, Type 4 due to CAVIN1 mutations. ( 30476128 )
2018
6
Acquired Partial Lipodystrophy Associated with Anti-Mi-2 Antibody-positive Adult-onset Dermatomyositis. ( 30182133 )
2018
7
Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis. ( 29610677 )
2018
8
A case of diencephalic syndrome presenting with isolated lipodystrophy. ( 29994870 )
2018
9
Endoplasmic reticulum stress activation in adipose tissue induces metabolic syndrome in individuals with familial partial lipodystrophy of the Dunnigan type. ( 29449893 )
2018
10
Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects. ( 30131000 )
2018
11
Pancreatic fat deposition is increased and related to beta-cell function in women with familial partial lipodystrophy. ( 30275911 )
2018
12
A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome. ( 30023403 )
2018
13
Acquired partial lipodystrophy treated with poly-L-lactic acid and hyaluronic acid fillers: a case report. ( 30118355 )
2018
14
A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalities. ( 30182761 )
2018
15
Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer-Simons syndrome). ( 30472754 )
2018
16
Acquired generalised lipodystrophy and type 1 diabetes mellitus in a child: a rare and implacable association. ( 30076164 )
2018
17
18F-FDG Uptake in Subcutaneous Fat Preceding Clinical Diagnosis of Human Immunodeficiency Virus-Associated Lipodystrophy. ( 30325831 )
2018
18
Comparing Efficacy and Costs of Four Facial Fillers in Human Immunodeficiency Virus-Associated Lipodystrophy: A Clinical Trial. ( 30036337 )
2018
19
Reply: Comparing Efficacy and Costs of Four Facial Fillers in Human Immunodeficiency Virus-Associated Lipodystrophy: A Clinical Trial. ( 30036341 )
2018
20
Histological and Molecular Adipose Tissue Changes Are Related to Metabolic Syndrome Rather Than Lipodystrophy in Human Immunodeficiency Virus-Infected Patients: A Cross-Sectional Study. ( 29788076 )
2018
21
Lipodystrophy diagnosis in people living with HIV/AIDS: prediction and validation of sex-specific anthropometric models. ( 29945584 )
2018
22
Genetics of Lipodystrophy: Can It Help in Understanding the Pathophysiology of Metabolic Syndrome? ( 29986445 )
2018
23
Physiological responses to leptin levels in lipodystrophy: a model for other hypoleptinemias? ( 30010621 )
2018
24
PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy. ( 30020498 )
2018
25
Leptin restores markers of female fertility in lipodystrophy. ( 30021121 )
2018
26
Low prevalence of lipodystrophy in HIV-infected Senegalese children on long-term antiretroviral treatment: the ANRS 12279 MAGGSEN Pediatric Cohort Study. ( 30081838 )
2018
27
Effect of Insulin-Induced Lipodystrophy on Glycemic Control among Children and Adolescents with Diabetes in Tikur Anbessa Specialized Hospital, Addis Ababa, Ethiopia. ( 30116742 )
2018
28
The Dysfunctional MDM2-p53 Axis in Adipocytes Contributes to Aging-Related Metabolic Complications by Induction of Lipodystrophy. ( 30131393 )
2018
29
Lipodystrophy Increases the Risk of CKD Development in HIV-Positive Patients in Switzerland: The LIPOKID Study. ( 30197975 )
2018
30
Recurrent fevers, progressive lipodystrophy and annular plaques in a child. ( 30205133 )
2018
31
"Fat Shadows" From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers. ( 30237235 )
2018
32
A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy. ( 30319454 )
2018
33
Update on Therapeutic Options in Lipodystrophy. ( 30370487 )
2018
34
Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities. ( 30406415 )
2018
35
Regional Body Fat Changes and Metabolic Complications in Children with Dunnigan Lipodystrophy-causing LMNA Variants. ( 30418556 )
2018
36
Adipose Tissue Transplantation Ameliorates Lipodystrophy-associated Metabolic Disorders in Seipin-deficient Mice. ( 30457912 )
2018
37
Adipose specific disruption of seipin causes early-onset generalised lipodystrophy and altered fuel utilisation without severe metabolic disease. ( 29459250 )
2018
38
"We're stuck with what we've got": The impact of lipodystrophy on body image. ( 29516553 )
2018
39
Contribution of Adipose-Derived Factor D/Adipsin to Complement Alternative Pathway Activation: Lessons from Lipodystrophy. ( 29531168 )
2018
40
Lipodystrophy in a Type 1 Diabetic Woman. ( 29587517 )
2018
41
Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy. ( 29644599 )
2018
42
Correction: Low expression of IL-18 and IL-18 receptor in human skeletal muscle is associated with systemic and intramuscular lipid metabolism-Role of HIV lipodystrophy. ( 29664933 )
2018
43
Truncated C-terminus of fibrillin-1 induces Marfanoid-progeroid-lipodystrophy (MPL) syndrome in rabbit. ( 29666143 )
2018
44
Transgenic Mice Overexpressing SREBP-1a in Male ob/ob Mice Exhibit Lipodystrophy and Exacerbate Insulin Resistance. ( 29668871 )
2018
45
Berardinelli-Seip Congenital Generalised Lipodystrophy. ( 29690976 )
2018
46
Diagnosis and treatment of lipodystrophy: a step-by-step approach. ( 29704234 )
2018
47
Evidence-based treatment for gynoid lipodystrophy: A review of the recent literature. ( 29707877 )
2018
48
Renal complications of lipodystrophy: A closer look at the natural history of kidney disease. ( 29722904 )
2018
49
Metreleptin-mediated improvements in insulin sensitivity are independent of food intake in humans with lipodystrophy. ( 29723161 )
2018
50
A YOUNG ADULT WITH GENERALIZED LIPODYSTROPHY AND DIABETES MELLITUS (CASE REPORT). ( 29745909 )
2018

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLD1 NM_002691.3(POLD1): c.1812_1814delCTC (p.Ser605del) deletion Pathogenic rs398122386 GRCh37 Chromosome 19, 50912078: 50912080
2 POLD1 NM_002691.3(POLD1): c.1812_1814delCTC (p.Ser605del) deletion Pathogenic rs398122386 GRCh38 Chromosome 19, 50408821: 50408823
3 LMNA NM_005572.3(LMNA): c.898G> A (p.Asp300Asn) single nucleotide variant Likely pathogenic rs267607591 GRCh37 Chromosome 1, 156105065: 156105065
4 LMNA NM_005572.3(LMNA): c.898G> A (p.Asp300Asn) single nucleotide variant Likely pathogenic rs267607591 GRCh38 Chromosome 1, 156135274: 156135274

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

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

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

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

# Super pathways Score Top Affiliating Genes
1 11.75 ADIPOQ AGPAT2 BSCL2 INS
2
Show member pathways
11.14 ADIPOQ INS
3 11.14 ADIPOQ AGPAT2 BSCL2 INS LMNA

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

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 homeostasis GO:0042593 9.43 ADIPOQ INS
2 positive regulation of cold-induced thermogenesis GO:0120162 9.4 ADIPOQ BSCL2
3 glucose metabolic process GO:0006006 9.37 ADIPOQ INS
4 positive regulation of glucose import GO:0046326 9.32 ADIPOQ INS
5 negative regulation of lipid catabolic process GO:0050995 9.26 BSCL2 INS
6 positive regulation of cellular protein metabolic process GO:0032270 9.16 ADIPOQ INS
7 fatty acid homeostasis GO:0055089 8.96 INS POLD1
8 negative regulation of gluconeogenesis GO:0045721 8.62 ADIPOQ INS

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 8.62 ADIPOQ INS

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....