MAD
MCID: MND007
MIFTS: 60

Mandibuloacral Dysplasia (MAD) malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases categories

Summaries for Mandibuloacral Dysplasia

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures).

MalaCards: Mandibuloacral Dysplasia, also known as mandibuloacral dysostosis, is related to progeria and lipodystrophy, and has symptoms including high vaulted/narrow palate, anomalies of teeth and dentition and hearing loss/hypoacusia/deafness. An important gene associated with Mandibuloacral Dysplasia is LMNA (lamin A/C), and among its related pathways are Nuclear Envelope Reassembly and Celecoxib Pathway, Pharmacodynamics. The compounds hydroxamate and 1,10-phenanthroline have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and breast, and related mouse phenotypes are limbs/digits/tail and vision/eye.

Wikipedia:66 Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia,... more...

Description from OMIM:48 248370

Aliases & Classifications for Mandibuloacral Dysplasia

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44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
mandibuloacral dysplasia with type a lipodystrophy:
Inheritance: Autosomal recessive


Aliases & Descriptions:

mandibuloacral dysplasia 44 21 23 22 48 46
mandibuloacral dysostosis 22 63
mandibuloacral dysplasia with type a lipodystrophy 50
mad 44


External Ids:

OMIM48 248370
MESH via Orphanet37 C535705
ICD10 via Orphanet27 Q87.5

Related Diseases for Mandibuloacral Dysplasia

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18GeneCards, 19GeneDecks
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Diseases related to Mandibuloacral Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1progeria30.6BANF1, RCE1, LMNA, ZMPSTE24
2lipodystrophy30.5AGPAT2, ZMPSTE24, LMNA, INS, BSCL2, PPARG
3familial partial lipodystrophy30.3BSCL2, PPARG, INS, LMNA, AGPAT2
4insulin resistance30.3BSCL2, INS, LMNA, AGPAT2, PPARG
5diabetes mellitus30.2PPARG, BSCL2, INS, LMNA, MMP9
6mandibuloacral dysplasia with type b lipodystrophy10.6
7mandibuloacral dysplasia with type a lipodystrophy10.4
8mandibulofacial dysostosis with microcephaly10.2
9focal segmental glomerulosclerosis10.1
10cleidocranial dysplasia10.1
11glomerulosclerosis10.1
12myopathy10.1
13scleroderma10.1
14distal hereditary motor neuropathy10.1AGPAT2
15tight skin contracture syndrome, lethal10.1ZMPSTE24, LMNA
16morbid obesity10.1INS
17emery-dreifuss muscular dystrophy10.1LMNA, BANF1
18berardinelli-seip congenital lipodystrophy10.1BSCL2, AGPAT2
19prediabetes syndrome10.0PPARG, INS
20idiopathic edema10.0PPARG, INS
21hyperinsulinism10.0PPARG, INS
22fatty liver disease10.0INS, PPARG
23hyperandrogenism10.0PPARG, INS, LMNA
24acanthosis nigricans10.0BSCL2, INS, LMNA, AGPAT2
25polycystic ovary syndrome10.0LMNA, INS, PPARG
26glucose intolerance10.0PPARG, INS
27stroke, ischemic10.0INS, MMP9
28metabolic syndrome x10.0LMNA, INS, PPARG
29hypertriglyceridemia10.0BSCL2, INS, PPARG
30type 2 diabetes mellitus10.0INS, PPARG, LMNA
31congenital heart disease9.9MMP9, PPARG, INS
32hypertension9.9PPARG, INS, MMP9
33obesity9.9LMNA, PPARG, INS
34vascular disease9.9MMP9, INS, PPARG
35coronary artery disease9.9MMP9, LMNA, PPARG, INS
36pancreatic cancer9.9INS, PPARG, MMP9
37atherosclerosis9.9PPARG, MMP9, LMNA, INS
38congenital generalized lipodystrophy type 29.9AGPAT2, PPARG, BSCL2, INS, LMNA, ZMPSTE24

Graphical network of the top 20 diseases related to Mandibuloacral Dysplasia:



Diseases related to mandibuloacral dysplasia

Symptoms for Mandibuloacral Dysplasia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

248370

Clinical features from OMIM:

248370

Symptoms:

50 (show all 28)
  • high vaulted/narrow palate
  • anomalies of teeth and dentition
  • hearing loss/hypoacusia/deafness
  • breast tissue/mammary gland absence/aplasia
  • tight skin/lack of elasticity
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • hypotonia
  • muscle anomalies
  • anomalies of cartilages, joints and periarticular tissue
  • articular/joint pain/arthralgia
  • autosomal recessive inheritance
  • anomalies of eyelids, eyelashes and lacrimal system
  • cataract/lens opacification
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • wormian bones
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • clavicle absent/abnormal
  • terminal/third phalangeal bone of fingers hypoplasia
  • skin hypoplasia/aplasia/atrophy
  • alopecia
  • osteolysis/osteoclasia/bone destruction/erosions
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • premature ageing
  • proptosis/exophthalmos
  • eyebrows anomalies
  • insulin resistance
  • large fontanelle/delayed fontanelle closure

Drugs & Therapeutics for Mandibuloacral Dysplasia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Mandibuloacral Dysplasia

Drug clinical trials:

Search ClinicalTrials for Mandibuloacral Dysplasia

Search NIH Clinical Center for Mandibuloacral Dysplasia

Search CenterWatch for Mandibuloacral Dysplasia

Genetic Tests for Mandibuloacral Dysplasia

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21GeneTests, 23GTR
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Genetic tests related to Mandibuloacral Dysplasia:

id Genetic test Affiliating Genes
1 Mandibuloacral Dysplasia21 23 ZMPSTE24

Anatomical Context for Mandibuloacral Dysplasia

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34MalaCards
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MalaCards organs/tissues related to Mandibuloacral Dysplasia:

34
Skin, Bone, Breast

Animal Models for Mandibuloacral Dysplasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mandibuloacral Dysplasia:

38 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9LMNA, MMP9, ZMPSTE24, AGPAT2
2MP:00053918.6MMP9, LMNA, INS, PPARG
3MP:00053818.4AGPAT2, LMNA, BSCL2, INS, MMP9
4MP:00053758.2PPARG, AGPAT2, BSCL2, ZMPSTE24, LMNA, INS
5MP:00053908.0LMNA, AGPAT2, ZMPSTE24, INS, PPARG, MMP9
6MP:00053897.9LMNA, INS, BSCL2, PPARG, MMP9
7MP:00053847.8PPARG, MMP9, BSCL2, INS, LMNA, ZMPSTE24
8MP:00053677.8BSCL2, AGPAT2, ZMPSTE24, MMP9, PPARG, LMNA
9MP:00053977.6LMNA, AGPAT2, PPARG, INS, ZMPSTE24, MMP9
10MP:00053697.6ZMPSTE24, MMP9, LMNA, INS, RCE1, PPARG
11MP:00053707.4AGPAT2, PPARG, BSCL2, INS, LMNA, ZMPSTE24
12MP:00053857.2ZMPSTE24, RCE1, MMP9, LMNA, INS, BSCL2
13MP:00053877.2MMP9, CBX1, LMNA, PPARG, BSCL2, AGPAT2
14MP:00107717.0PPARG, BSCL2, INS, LMNA, MMP9, ZMPSTE24
15MP:00053866.9INS, LMNA, MMP9, RCE1, AGPAT2, PPARG
16MP:00053786.9AGPAT2, ZMPSTE24, MMP9, LMNA, INS, BSCL2
17MP:00053766.4INS, LMNA, PPARG, MMP9, CBX1, RCE1
18MP:00107686.4AGPAT2, RCE1, ZMPSTE24, CBX1, MMP9, LMNA

Publications for Mandibuloacral Dysplasia

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53PubMed
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Articles related to Mandibuloacral Dysplasia:

(show all 41)
idTitleAuthorsYear
1
Precautions in using a perforator free flap to treat mandibuloacral dysplasia-a case report. (24123119)
2013
2
Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers. (23775434)
2013
3
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. (22549407)
2012
4
Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment. (22706480)
2012
5
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (22935701)
2012
6
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts. (21419220)
2011
7
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. (21267004)
2011
8
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. (20814950)
2010
9
Elbow deformities in a patient with mandibuloacral dysplasia type A. (20949529)
2010
10
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. (20550970)
2010
11
Mandibuloacral dysplasia type A in childhood. (19764019)
2009
12
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
13
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. (18435794)
2008
14
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. (18554282)
2008
15
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. (17935239)
2007
16
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. (17848409)
2007
17
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (17152860)
2006
18
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. (15998779)
2005
19
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. (16046620)
2005
20
Mandibuloacral dysplasia: a report of two Egyptian cases. (16440877)
2005
21
A case of mandibuloacral dysplasia presenting with features of scleroderma. (15311567)
2004
22
Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. (15473259)
2004
23
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. (12913070)
2003
24
Mandibuloacral dysplasia with absent breast development. (12784312)
2003
25
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. (12788894)
2003
26
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. (14627682)
2003
27
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. (11836320)
2002
28
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. (12075506)
2002
29
Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. (11102943)
2000
30
Familial mandibuloacral dysplasia: report of an additional Italian patient. (10995511)
2000
31
Familial mandibuloacral dysplasia--a report of four cases. (9732012)
1998
32
Lethal neonatal mandibuloacral dysplasia. (8957511)
1996
33
Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma. (7593806)
1995
34
Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. (1736653)
1992
35
A severe case of mandibuloacral dysplasia in a girl. (1642279)
1992
36
Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. (1939519)
1991
37
Mandibuloacral dysplasia as a form of idiopathic osteolysis. (1815190)
1991
38
Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy? (3717214)
1986
39
Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance. (6467666)
1984
40
Familial mandibuloacral dysplasia. (7317281)
1981
41
New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. (5173234)
1971

Variations for Mandibuloacral Dysplasia

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mandibuloacral Dysplasia:

65
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg527HisVAR_018727
2LMNAp.Ala529ValVAR_034709
3LMNAp.Ser573LeuVAR_039789

Clinvar genetic disease variations for Mandibuloacral Dysplasia:

1
id Gene Name Type Significance SNP ID Assembly Location
1LMNANM_005572.3(LMNA): c.1579C> T (p.Arg527Cys)single nucleotide variantPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
2LMNANM_005572.3(LMNA): c.1580G> A (p.Arg527His)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
3LMNANM_005572.3(LMNA): c.1626G> C (p.Lys542Asn)single nucleotide variantPathogenicrs56673169GRCh37Chr 1, 156107462: 156107462
4LMNANM_005572.3(LMNA): c.1586C> T (p.Ala529Val)single nucleotide variantPathogenicrs60580541GRCh37Chr 1, 156107001: 156107001
5LMNANM_005572.3(LMNA): c.1585G> A (p.Ala529Thr)single nucleotide variantPathogenicrs121912494GRCh37Chr 1, 156107000: 156107000

Expression for genes affiliated with Mandibuloacral Dysplasia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mandibuloacral Dysplasia

Search GEO for disease gene expression data for Mandibuloacral Dysplasia.

Pathways for genes affiliated with Mandibuloacral Dysplasia

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51PathCards, 56Reactome, 52PharmGKB, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8LMNA, BANF1
29.5MMP9, PPARG
39.4MMP9, INS
4
Show member pathways
Cholesterol biosynthesis39
lanosterol biosynthesis39
zymosterol biosynthesis39
mevalonate pathway I39
epoxysqualene biosynthesis39
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)39
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)39
trans, trans-farnesyl diphosphate biosynthesis39
cholesterol biosynthesis I39
cholesterol biosynthesis III (via desmosterol)39
geranylgeranyldiphosphate biosynthesis39
9.3RCE1, ZMPSTE24
57.9AGPAT2, ZMPSTE24, LMNA, INS, BSCL2, PPARG

Compounds for genes affiliated with Mandibuloacral Dysplasia

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46Novoseek, 3BitterDB, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 25HMDB
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Compounds related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1hydroxamate4610.0MMP9, ZMPSTE24
21,10-phenanthroline46 311.0ZMPSTE24, MMP9
3indinavir46 52 1212.0LMNA, PPARG
4gw966246 3010.9MMP9, PPARG
5batimastat46 62 1211.9MMP9, ZMPSTE24
6irbesartan46 30 52 1212.9MMP9, PPARG
7ciglitazone46 3010.8PPARG, MMP9
8actos469.8INS, PPARG
9hbig469.7INS, PPARG
10mitiglinide46 1210.7PPARG, INS
11glipizide46 52 1211.7INS, PPARG
12acarbose46 1210.7INS, PPARG
13repaglinide52 46 1211.7PPARG, INS
14nateglinide46 52 1211.7INS, PPARG
15glimepiride46 52 1211.7INS, PPARG
16telmisartan46 30 1211.7PPARG, INS
17orlistat46 62 1211.7INS, PPARG
188-isoprostane469.7MMP9, INS
19thiazolidinedione469.7PPARG, INS
20gemfibrozil30 46 1211.6PPARG, INS
21niacin46 1210.6PPARG, INS
22aicar46 25 1211.6PPARG, INS
23l-nmma469.6PPARG, MMP9
24bezafibrate46 30 1211.6PPARG, INS
25alpha lipoic acid469.5MMP9, INS
26ritonavir46 52 1211.4INS, PPARG
27tripeptide469.3RCE1, ZMPSTE24
28fenofibrate46 52 1211.3PPARG, INS, MMP9
29pioglitazone30 46 52 1212.3MMP9, INS, PPARG
30troglitazone46 30 62 1212.3PPARG, INS, MMP9
312-deoxyglucose46 1210.2INS, PPARG
32zinc46 2510.2LMNA, MMP9, CBX1, ZMPSTE24
33cholesterol46 30 25 1212.1PPARG, INS, LMNA, ZMPSTE24
34ly294002469.1MMP9, INS, PPARG
35metformin46 52 1211.0PPARG, INS
36rosiglitazone30 46 52 25 1213.0MMP9, LMNA, INS, PPARG
37alanine468.9MMP9, LMNA, INS, PPARG
38lipid468.7AGPAT2, LMNA, INS, PPARG

GO Terms for genes affiliated with Mandibuloacral Dysplasia

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17Gene Ontology
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Cellular components related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:0056548.8BANF1, CBX1, LMNA, PPARG

Biological processes related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:0070849.8BANF1, LMNA
2mitotic nuclear envelope disassemblyGO:0070779.8BANF1, LMNA
3negative regulation of acute inflammatory responseGO:0026749.4INS, PPARG
4negative regulation of lipid catabolic processGO:0509959.3BSCL2, INS
5proteolysisGO:0065088.6RCE1, ZMPSTE24, MMP9

Molecular functions related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:0042228.9RCE1, ZMPSTE24, MMP9

Products for genes affiliated with Mandibuloacral Dysplasia

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  • Antibodies
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Sources for Mandibuloacral Dysplasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet