MADA
MCID: MND007
MIFTS: 49

Mandibuloacral Dysplasia (MADA) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Mandibuloacral Dysplasia

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Sources:
12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Mandibuloacral Dysplasia:

Name: Mandibuloacral Dysplasia 52 48 24 25 54 27 12 50
Mandibuloacral Dysplasia with Type a Lipodystrophy 52 48 54 70
Mandibuloacral Dysostosis 25 27 68
Craniomandibular Dermatodysostosis 24 70
Mada 48 70
 
Mad 48 54
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia 48
Lipodystrophy Type a Associated with Mandibuloacral Dysplasia 70
Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical 70
Tendinous Calcinosis Arthropathy and Progeroid Features 70

Characteristics:

Orphanet epidemiological data:

54
mandibuloacral dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
mandibuloacral dysplasia with type a lipodystrophy:
Inheritance: Autosomal recessive

HPO:

64
mandibuloacral dysplasia:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 248370
UMLS via Orphanet69 C0432291
ICD10 via Orphanet31 Q87.5
MESH via Orphanet40 C535705

Summaries for Mandibuloacral Dysplasia

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OMIM:52 Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth... (248370) more...

MalaCards based summary: Mandibuloacral Dysplasia, also known as mandibuloacral dysplasia with type a lipodystrophy, is related to hutchinson-gilford progeria and mandibuloacral dysplasia with type b lipodystrophy, and has symptoms including joint stiffness, joint stiffness and Array. An important gene associated with Mandibuloacral Dysplasia is LMNA (Lamin A/C), and among its related pathways are Nuclear Envelope Reassembly and Adipogenesis. Affiliated tissues include skin, bone and breast, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

Genetics Home Reference:25 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).

UniProtKB/Swiss-Prot:70 Mandibuloacral dysplasia with type A lipodystrophy: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased.

Wikipedia:71 Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia,... more...

Related Diseases for Mandibuloacral Dysplasia

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

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1hutchinson-gilford progeria30.2AGPAT2, BANF1, BSCL2, CBX1, LMNA, MMP9
2mandibuloacral dysplasia with type b lipodystrophy12.3
3adenosine monophosphate deaminase 1 deficiency11.0
4cleidocranial dysplasia10.9
5adrenomyodystrophy10.9
6progeria10.2
7lipodystrophy10.2
8muscular dystrophy-dystroglycanopathy , type a, 310.2LMNA, ZMPSTE24
9multiple myeloma10.2BSCL2, LMNA
10thymus cancer10.2LMNA, ZMPSTE24
11heart-hand syndrome, slovenian type10.1LMNA, ZMPSTE24
12ventricular tachycardia, catecholaminergic polymorphic, 110.1LMNA, ZMPSTE24
13maturity-onset diabetes of the young, type viii10.1AGPAT2, LMNA
14elejalde disease10.1AGPAT2, ZMPSTE24
15pituitary adenoma, prolactin-secreting10.1BSCL2, LMNA
16harrod syndrome10.1LMNA, ZMPSTE24
17conotruncal heart malformations10.1BSCL2, LMNA
18chchd10-related disorders10.0AGPAT2, BSCL2
19phosphoglycerate dehydrogenase deficiency10.0LMNA, ZMPSTE24
20ceroid lipofuscinosis, neuronal, 13, kufs type10.0AGPAT2, BSCL2
21diffuse lipomatosis10.0BANF1, LMNA, ZMPSTE24
22familial partial lipodystrophy10.0
23parametrium malignant neoplasm9.9BANF1, LMNA, MMP9
24ovarian stromal hyperthecosis9.9BSCL2, LMNA
25hyperphosphatemia9.9AGPAT2, BSCL2, LMNA
26focal segmental glomerulosclerosis9.8
27congenital myopathy9.8
28myopathy9.8
29muscular dystrophy9.8
30tooth agenesis9.8AGPAT2, BSCL2, LMNA, ZMPSTE24
31thymus clear cell carcinoma9.8AGPAT2, BSCL2, LMNA, ZMPSTE24

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



Diseases related to mandibuloacral dysplasia

Symptoms & Phenotypes for Mandibuloacral Dysplasia

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Symptoms by clinical synopsis from OMIM:

248370

Clinical features from OMIM:

248370

Human phenotypes related to Mandibuloacral Dysplasia:

 54 64 (show all 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth64 54 Occasional (29-5%) HP:0000164
2 high palate64 54 Occasional (29-5%) HP:0000218
3 large fontanelles64 54 Very frequent (99-80%) HP:0000239
4 hearing impairment64 54 Occasional (29-5%) HP:0000365
5 cataract64 54 Occasional (29-5%) HP:0000518
6 proptosis64 54 Frequent (79-30%) HP:0000520
7 abnormality of the eyebrow64 54 Frequent (79-30%) HP:0000534
8 absent eyelashes64 54 Occasional (29-5%) HP:0000561
9 insulin resistance64 54 Frequent (79-30%) HP:0000855
10 hyperpigmentation of the skin64 54 Occasional (29-5%) HP:0000953
11 thin skin64 54 Very frequent (99-80%) HP:0000963
12 muscular hypotonia64 54 Occasional (29-5%) HP:0001252
13 flexion contracture64 54 Occasional (29-5%) HP:0001371
14 limitation of joint mobility64 54 Very frequent (99-80%) HP:0001376
15 alopecia64 54 Very frequent (99-80%) HP:0001596
16 acroosteolysis of distal phalanges (feet)64 54 Very frequent (99-80%) HP:0001870
17 wormian bones64 54 Very frequent (99-80%) HP:0002645
18 osteolysis54 Very frequent (99-80%)
19 arthralgia64 54 Occasional (29-5%) HP:0002829
20 abnormality of the musculature54 Occasional (29-5%)
21 hyperlipidemia64 54 Frequent (79-30%) HP:0003077
22 short stature64 54 Very frequent (99-80%) HP:0004322
23 dermal atrophy64 54 Very frequent (99-80%) HP:0004334
24 progeroid facial appearance64 54 Very frequent (99-80%) HP:0005328
25 aplasia/hypoplasia of the clavicles64 54 Very frequent (99-80%) HP:0006710
26 prematurely aged appearance54 Very frequent (99-80%)
27 osteolytic defects of the distal phalanges of the hand64 54 Very frequent (99-80%) HP:0009839
28 short distal phalanx of finger64 54 Very frequent (99-80%) HP:0009882
29 lack of skin elasticity64 54 Occasional (29-5%) HP:0100679
30 breast aplasia64 54 Occasional (29-5%) HP:0100783
31 delayed cranial suture closure64 HP:0000270
32 increased facial adipose tissue64 HP:0000287
33 full cheeks64 HP:0000293
34 bird-like facies64 HP:0000320
35 micrognathia64 HP:0000347
36 narrow nasal ridge64 HP:0000418
37 increased adipose tissue around the neck64 HP:0000468
38 dental crowding64 HP:0000678
39 hypoplasia of teeth64 HP:0000685
40 insulin-resistant diabetes mellitus64 HP:0000831
41 glucose intolerance64 HP:0000833
42 hyperinsulinemia64 HP:0000842
43 short clavicles64 HP:0000894
44 progressive clavicular acroosteolysis64 HP:0000905
45 mottled pigmentation64 HP:0001070
46 joint stiffness64 HP:0001387
47 sparse scalp hair64 HP:0002209
48 hyperglycemia64 HP:0003074
49 loss of subcutaneous adipose tissue in limbs64 HP:0003635
50 reduced subcutaneous adipose tissue64 HP:0003758
51 calcinosis64 HP:0003761
52 premature loss of teeth64 HP:0006480
53 postnatal growth retardation64 HP:0008897
54 lipodystrophy64 HP:0009125

UMLS symptoms related to Mandibuloacral Dysplasia:


joint stiffness

MGI Mouse Phenotypes related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.6AGPAT2, BSCL2, LMNA, ZMPSTE24
2MP:00053719.4AGPAT2, LMNA, MMP9, ZMPSTE24
3MP:00053819.0AGPAT2, BSCL2, LMNA, MMP9, ZMPSTE24
4MP:00053708.7AGPAT2, BSCL2, LMNA, RCE1, ZMPSTE24
5MP:00053868.2AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
6MP:00053788.2AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
7MP:00053678.2AGPAT2, BSCL2, LMNA, MMP9, ZMPSTE24
8MP:00107718.2AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
9MP:00107687.6AGPAT2, BSCL2, CBX1, LMNA, MMP9, RCE1

Drugs & Therapeutics for Mandibuloacral Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mandibuloacral Dysplasia

Genetic Tests for Mandibuloacral Dysplasia

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Genetic tests related to Mandibuloacral Dysplasia:

id Genetic test Affiliating Genes
1 Mandibuloacral Dysplasia27 24 LMNA, ZMPSTE24
2 Mandibuloacral Dysostosis27

Anatomical Context for Mandibuloacral Dysplasia

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MalaCards organs/tissues related to Mandibuloacral Dysplasia:

36
Skin, Bone, Breast

Publications for Mandibuloacral Dysplasia

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Articles related to Mandibuloacral Dysplasia:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B. (27410998)
2016
2
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A. (26602028)
2016
3
Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development. (27100822)
2016
4
Mandibuloacral Dysplasia Type B in an Infant: A Rare Progeroid Genodermatosis. (25629449)
2015
5
Hutchinson-gilford progeria versus mandibuloacral dysplasia. (24700965)
2014
6
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China. (25286833)
2014
7
Rapamycin treatment of Mandibuloacral Dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics. (25324471)
2014
8
Mandibuloacral dysplasia. (24793088)
2014
9
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. (24639906)
2014
10
Precautions in using a perforator free flap to treat mandibuloacral dysplasia-a case report. (24123119)
2013
11
Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers. (23775434)
2013
12
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. (22549407)
2012
13
Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment. (22706480)
2012
14
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (22935701)
2012
15
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. (21267004)
2011
16
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts. (21419220)
2011
17
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. (20814950)
2010
18
Elbow deformities in a patient with mandibuloacral dysplasia type A. (20949529)
2010
19
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. (20550970)
2010
20
Mandibuloacral dysplasia type A in childhood. (19764019)
2009
21
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. (18435794)
2008
22
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. (18554282)
2008
23
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
24
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. (18348272)
2008
25
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. (17848409)
2007
26
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. (17935239)
2007
27
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (17152860)
2006
28
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. (16046620)
2005
29
Mandibuloacral dysplasia: a report of two Egyptian cases. (16440877)
2005
30
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. (15998779)
2005
31
A case of mandibuloacral dysplasia presenting with features of scleroderma. (15311567)
2004
32
Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. (15473259)
2004
33
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. (12913070)
2003
34
Mandibuloacral dysplasia with absent breast development. (12784312)
2003
35
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. (14627682)
2003
36
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. (12788894)
2003
37
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. (11836320)
2002
38
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. (12075506)
2002
39
Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. (11102943)
2000
40
Familial mandibuloacral dysplasia: report of an additional Italian patient. (10995511)
2000
41
Familial mandibuloacral dysplasia--a report of four cases. (9732012)
1998
42
Lethal neonatal mandibuloacral dysplasia. (8957511)
1996
43
Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma. (7593806)
1995
44
A severe case of mandibuloacral dysplasia in a girl. (1642279)
1992
45
Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. (1736653)
1992
46
Mandibuloacral dysplasia as a form of idiopathic osteolysis. (1815190)
1991
47
Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. (1939519)
1991
48
Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy? (3717214)
1986
49
Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance. (6467666)
1984
50
Familial mandibuloacral dysplasia. (7317281)
1981

Variations for Mandibuloacral Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Mandibuloacral Dysplasia:

70
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg527HisVAR_018727rs57520892
2LMNAp.Ala529ValVAR_034709rs60580541
3LMNAp.Ser573LeuVAR_039789rs60890628

Clinvar genetic disease variations for Mandibuloacral Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_ 170707.3(LMNA): c.1579C> T (p.Arg527Cys)SNVPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
2LMNANM_ 170707.3(LMNA): c.1824C> T (p.Gly608=)SNVPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
3LMNANM_ 170707.3(LMNA): c.1411C> T (p.Arg471Cys)SNVPathogenicrs28928902GRCh37Chr 1, 156106742: 156106742
4LMNANM_ 170707.3(LMNA): c.1626G> C (p.Lys542Asn)SNVPathogenicrs56673169GRCh37Chr 1, 156107462: 156107462
5LMNANM_ 170707.3(LMNA): c.1586C> T (p.Ala529Val)SNVPathogenicrs60580541GRCh37Chr 1, 156107001: 156107001
6LMNANM_ 170707.3(LMNA): c.1585G> A (p.Ala529Thr)SNVPathogenicrs121912494GRCh37Chr 1, 156107000: 156107000
7LMNANM_ 170707.3(LMNA): c.1072G> A (p.Glu358Lys)SNVPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
8LMNANM_ 170707.3(LMNA): c.1488+1G> ASNVPathogenicrs267607640GRCh37Chr 1, 156106820: 156106820
9LMNANM_ 170707.3(LMNA): c.1583C> A (p.Thr528Lys)SNVPathogenic/ Likely pathogenicrs57629361GRCh37Chr 1, 156106998: 156106998

Expression for genes affiliated with Mandibuloacral Dysplasia

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Search GEO for disease gene expression data for Mandibuloacral Dysplasia.

Pathways for genes affiliated with Mandibuloacral Dysplasia

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Pathways related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7BANF1, LMNA
28.7AGPAT2, BSCL2, LMNA, ZMPSTE24

GO Terms for genes affiliated with Mandibuloacral Dysplasia

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Cellular components related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1integral component of endoplasmic reticulum membraneGO:00301768.9BSCL2, RCE1, ZMPSTE24
2endoplasmic reticulum membraneGO:00057898.8AGPAT2, BSCL2, RCE1, ZMPSTE24

Biological processes related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope disassemblyGO:000707710.1BANF1, LMNA
2mitotic nuclear envelope reassemblyGO:000708410.0BANF1, LMNA
3CAAX-box protein processingGO:00715869.8RCE1, ZMPSTE24
4nuclear envelope organizationGO:00069989.8LMNA, ZMPSTE24

Molecular functions related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endopeptidase activityGO:00041759.7MMP9, RCE1
2metalloendopeptidase activityGO:00042228.8MMP9, RCE1, ZMPSTE24

Sources for Mandibuloacral Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet