MAD
MCID: MND007
MIFTS: 53

Mandibuloacral Dysplasia (MAD) malady

Bone, Skin, Endocrine, Fetal categories

Summaries for Mandibuloacral Dysplasia

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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 familial partial lipodystrophy, and has symptoms including autosomal recessive inheritance, high vaulted/narrow palate and hypotonia. An important gene associated with Mandibuloacral Dysplasia is LMNA (lamin A/C), and among its related pathways are Initiation of Nuclear Envelope Reformation and superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate). The compounds hydroxamate and gw9662 have been mentioned in the context of this disorder. Affiliated tissues include skin and breast, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

Wikipedia:64 Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia,... more...

Description from OMIM:47 248370

Aliases & Classifications for Mandibuloacral Dysplasia

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone, Skin, Endocrine


Characteristics (Orphanet epidemiological data):

49
mandibuloacral dysplasia with type a lipodystrophy:
Inheritance: Autosomal recessive


Aliases & Descriptions:

mandibuloacral dysplasia 43 20 22 21 47 45
mandibuloacral dysostosis 21 61
mandibuloacral dysplasia with type a lipodystrophy 49
mad 43


External Ids:

OMIM47 248370
MESH via Orphanet36 C535705
ICD10 via Orphanet26 Q87.5

Related Diseases for Mandibuloacral Dysplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Mandibuloacral Dysplasia family:

mandibuloacral dysplasia with type a lipodystrophy mandibuloacral dysplasia with type b lipodystrophy

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

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1progeria30.6ZMPSTE24, BANF1, RCE1, LMNA
2familial partial lipodystrophy30.4PPARG, BSCL2, AGPAT2, INS, LMNA
3insulin resistance30.1PPARG, BSCL2, AGPAT2, INS, LMNA
4mandibuloacral dysplasia with type b lipodystrophy10.6
5mandibuloacral dysplasia with type a lipodystrophy10.4
6bovine spongiform encephalopathy10.4
7myxedema10.3
8mandibulofacial dysostosis with microcephaly10.2
9mercury poisoning10.2
10variant creutzfeldt-jakob disease10.2
11focal segmental glomerulosclerosis10.1
12focal glomerulosclerosis10.1
13cleidocranial dysplasia10.1
14myopathy congenital10.1
15melancholia10.1
16antisocial personality disorder10.1
17creutzfeldt-jakob syndrome10.1
18dilated cardiomyopathy10.0LMNA
19tight skin contracture syndrome, lethal10.0LMNA, ZMPSTE24
20leukemia10.0BANF1
21distal hereditary motor neuropathy10.0AGPAT2
22berardinelli-seip congenital lipodystrophy10.0BSCL2, AGPAT2
23pituitary tumors10.0PPARG
24salivary gland cancer10.0PPARG
25ovarian cancer10.0MMP9, AGPAT2
26emery-dreifuss muscular dystrophy10.0BANF1, LMNA
27hypercholesterolemia10.0INS
28neuropathy10.0LMNA, INS
29retinoblastoma10.0LMNA, PPARG
30coronary heart disease10.0LMNA, INS
31diabetic retinopathy10.0INS
32myopathy10.0LMNA, INS
33stroke, ischemic10.0MMP9, INS
34prediabetes syndrome10.0PPARG, INS
35idiopathic edema10.0PPARG, INS
36polycystic ovary syndrome10.0PPARG, INS, LMNA
37hyperandrogenism10.0LMNA, INS, PPARG
38glucose intolerance10.0PPARG, INS, LMNA
39hyperinsulinism10.0LMNA, INS, PPARG
40hypertriglyceridemia10.0INS, BSCL2, PPARG
41metabolic syndrome x10.0PPARG, INS, LMNA
42acanthosis nigricans10.0LMNA, INS, AGPAT2, BSCL2
43congenital heart defect10.0MMP9, INS, PPARG
44vascular disease10.0MMP9, INS, PPARG
45type 2 diabetes mellitus10.0PPARG, INS, LMNA
46coronary artery disease,10.0PPARG, INS, MMP9, LMNA
47atherosclerosis10.0PPARG, INS, MMP9, LMNA
48pancreatic cancer10.0MMP9, INS, PPARG
49diabetes mellitus10.0PPARG, BSCL2, INS, MMP9, LMNA
50congenital generalized lipodystrophy type 210.0PPARG, BSCL2, ZMPSTE24, AGPAT2, INS, LMNA

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



Diseases related to mandibuloacral dysplasia

Clinical Features for Mandibuloacral Dysplasia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

248370

Clinical synopsis from OMIM:

248370

Symptoms:

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

Drugs & Therapeutics for Mandibuloacral Dysplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Mandibuloacral Dysplasia:

id Genetic test Affiliating Genes
1 Mandibuloacral Dysplasia20 22 ZMPSTE24

Anatomical Context for Mandibuloacral Dysplasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mandibuloacral Dysplasia:

33
Skin, Breast

Animal Models for Mandibuloacral Dysplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Mandibuloacral Dysplasia

Sources:
51PubMed
See all sources

Articles related to Mandibuloacral Dysplasia:

(show all 43)
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
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. (18348272)
2008
15
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. (18554282)
2008
16
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. (17935239)
2007
17
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. (17848409)
2007
18
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (17152860)
2006
19
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. (15998779)
2005
20
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. (16046620)
2005
21
Mandibuloacral dysplasia: a report of two Egyptian cases. (16440877)
2005
22
A case of mandibuloacral dysplasia presenting with features of scleroderma. (15311567)
2004
23
Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. (15473259)
2004
24
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. (12913070)
2003
25
Mandibuloacral dysplasia with absent breast development. (12784312)
2003
26
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. (12788894)
2003
27
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. (14627682)
2003
28
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. (11836320)
2002
29
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. (12075506)
2002
30
Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. (11102943)
2000
31
Familial mandibuloacral dysplasia: report of an additional Italian patient. (10995511)
2000
32
Familial mandibuloacral dysplasia--a report of four cases. (9732012)
1998
33
Lethal neonatal mandibuloacral dysplasia. (8957511)
1996
34
Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma. (7593806)
1995
35
Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. (1736653)
1992
36
A severe case of mandibuloacral dysplasia in a girl. (1642279)
1992
37
Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. (1939519)
1991
38
Mandibuloacral dysplasia as a form of idiopathic osteolysis. (1815190)
1991
39
Mandibuloacral "dysplasia". (1951456)
1991
40
Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy? (3717214)
1986
41
Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance. (6467666)
1984
42
Familial mandibuloacral dysplasia. (7317281)
1981
43
New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys. (5173234)
1971

Genetic Variations for Mandibuloacral Dysplasia

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Mandibuloacral Dysplasia:

63
id Symbol AA change Variation SNP ID
1LMNAp.Arg527HisVAR_018727
2LMNAp.Ala529ValVAR_034709
3LMNAp.Ser573LeuVAR_039789

Expression for genes affiliated with Mandibuloacral Dysplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Pathways related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6LMNA, BANF1
2
Hide members
9.3RCE1, ZMPSTE24
38.2LMNA, PPARG, BSCL2, ZMPSTE24, AGPAT2, INS

Compounds for genes affiliated with Mandibuloacral Dysplasia

Sources:
45Novoseek, 29IUPHAR, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 2BitterDB, 24HMDB
See all sources

Compounds related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1hydroxamate459.9MMP9, ZMPSTE24
2gw966245 2910.9MMP9, PPARG
3actos459.9INS, PPARG
4irbesartan45 29 50 1112.9MMP9, PPARG
5hbig459.9PPARG, INS
6mitiglinide45 1110.8INS, PPARG
7glipizide45 1110.8INS, PPARG
8indinavir45 50 1111.8LMNA, PPARG
9acarbose45 1110.8INS, PPARG
10repaglinide45 50 1111.8INS, PPARG
11glimepiride45 50 1111.8INS, PPARG
12nateglinide45 50 1111.8PPARG, INS
13telmisartan45 29 1111.8INS, PPARG
14orlistat45 60 1111.7INS, PPARG
15ciglitazone45 2910.7MMP9, PPARG
16gemfibrozil45 29 1111.7PPARG, INS
17thiazolidinedione459.6PPARG, INS
18niacin45 1110.5INS, PPARG
198-isoprostane459.4MMP9, INS
201,10-phenanthroline45 210.4MMP9, ZMPSTE24
21fenofibrate45 50 1111.4MMP9, INS, PPARG
22pioglitazone45 50 29 1112.4PPARG, INS, MMP9
23troglitazone45 29 60 1112.4PPARG, INS, MMP9
24rosiglitazone45 50 29 11 2413.2LMNA, MMP9, INS, PPARG
25cholesterol45 29 11 2412.1PPARG, ZMPSTE24, INS, LMNA
26zinc45 249.9ZMPSTE24, CBX1, MMP9, LMNA

GO Terms for genes affiliated with Mandibuloacral Dysplasia

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope disassemblyGO:0070779.6LMNA, BANF1
2negative regulation of acute inflammatory responseGO:0026749.5INS, PPARG
3mitotic nuclear envelope reassemblyGO:0070849.5BANF1, LMNA
4CAAX-box protein processingGO:0715869.4RCE1, ZMPSTE24
5negative regulation of lipid catabolic processGO:0509959.3INS, BSCL2

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

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

Products for genes affiliated with Mandibuloacral Dysplasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mandibuloacral Dysplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet