MCID: MND007
MIFTS: 49

Mandibuloacral Dysplasia 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, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Mandibuloacral Dysplasia:

Name: Mandibuloacral Dysplasia 51 47 24 25 53 26 12 49
Mandibuloacral Dysplasia with Type a Lipodystrophy 51 47 53 69
Mandibuloacral Dysostosis 25 26 67
Craniomandibular Dermatodysostosis 24 69
Mada 47 69
 
Mad 47 53
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia 47
Lipodystrophy Type a Associated with Mandibuloacral Dysplasia 69
Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical 69
Tendinous Calcinosis Arthropathy and Progeroid Features 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
mandibuloacral dysplasia:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM51 248370
UMLS via Orphanet68 C0432291
ICD10 via Orphanet30 Q87.5
MESH via Orphanet39 C535705

Summaries for Mandibuloacral Dysplasia

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OMIM:51 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 abnormality of the teeth, abnormality of the clavicle and limitation of joint mobility. 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 and bone, 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:69 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:70 Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia,... more...

Related Diseases for Mandibuloacral Dysplasia

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



Diseases related to mandibuloacral dysplasia

Symptoms 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:

 63 53 (show all 70)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth63 53 hallmark (90%) Occasional (29-5%) HP:0000164
2 abnormality of the clavicle63 hallmark (90%) HP:0000889
3 limitation of joint mobility63 53 hallmark (90%) Very frequent (99-80%) HP:0001376
4 alopecia63 53 hallmark (90%) Very frequent (99-80%) HP:0001596
5 wormian bones63 53 hallmark (90%) Very frequent (99-80%) HP:0002645
6 osteolysis63 53 hallmark (90%) Very frequent (99-80%) HP:0002797
7 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
8 prematurely aged appearance63 53 hallmark (90%) Very frequent (99-80%) HP:0007495
9 aplasia/hypoplasia of the skin63 hallmark (90%) HP:0008065
10 short distal phalanx of finger63 53 hallmark (90%) Very frequent (99-80%) HP:0009882
11 abnormality of the fontanelles or cranial sutures63 hallmark (90%) HP:0000235
12 micrognathia63 hallmark (90%) HP:0000347
13 convex nasal ridge63 hallmark (90%) HP:0000444
14 hypopigmented skin patches63 hallmark (90%) HP:0001053
15 skeletal dysplasia63 hallmark (90%) HP:0002652
16 arthralgia63 53 hallmark (90%) Occasional (29-5%) HP:0002829
17 lipoatrophy63 hallmark (90%) HP:0100578
18 proptosis63 53 typical (50%) Frequent (79-30%) HP:0000520
19 abnormality of the eyebrow63 53 typical (50%) Frequent (79-30%) HP:0000534
20 insulin resistance63 53 typical (50%) Frequent (79-30%) HP:0000855
21 abnormality of lipid metabolism63 typical (50%) HP:0003119
22 narrow mouth63 typical (50%) HP:0000160
23 hearing impairment63 53 typical (50%) Occasional (29-5%) HP:0000365
24 cataract63 53 typical (50%) Occasional (29-5%) HP:0000518
25 chondrocalcinosis63 typical (50%) HP:0000934
26 thin skin63 53 typical (50%) Very frequent (99-80%) HP:0000963
27 muscular hypotonia63 53 typical (50%) Occasional (29-5%) HP:0001252
28 muscle weakness63 typical (50%) HP:0001324
29 flexion contracture63 53 typical (50%) Occasional (29-5%) HP:0001371
30 abnormality of the nail63 typical (50%) HP:0001597
31 short nose63 typical (50%) HP:0003196
32 myopathy63 typical (50%) HP:0003198
33 lack of skin elasticity63 53 typical (50%) Occasional (29-5%) HP:0100679
34 abnormality of the palate63 occasional (7.5%) HP:0000174
35 abnormality of skin pigmentation63 occasional (7.5%) HP:0001000
36 breast aplasia63 53 occasional (7.5%) Occasional (29-5%) HP:0100783
37 high palate63 53 Occasional (29-5%) HP:0000218
38 delayed cranial suture closure63 HP:0000270
39 increased facial adipose tissue63 HP:0000287
40 full cheeks63 HP:0000293
41 bird-like facies63 HP:0000320
42 narrow nasal ridge63 HP:0000418
43 increased adipose tissue around the neck63 HP:0000468
44 dental crowding63 HP:0000678
45 hypoplasia of teeth63 HP:0000685
46 insulin-resistant diabetes mellitus63 HP:0000831
47 glucose intolerance63 HP:0000833
48 hyperinsulinemia63 HP:0000842
49 short clavicles63 HP:0000894
50 progressive clavicular acroosteolysis63 HP:0000905
51 reduced subcutaneous adipose tissue63 HP:0001002
52 mottled pigmentation63 HP:0001070
53 joint stiffness63 HP:0001387
54 acroosteolysis of distal phalanges (feet)63 53 Very frequent (99-80%) HP:0001870
55 sparse scalp hair63 HP:0002209
56 hyperglycemia63 HP:0003074
57 hyperlipidemia63 53 Frequent (79-30%) HP:0003077
58 loss of subcutaneous adipose tissue in limbs63 HP:0003635
59 calcinosis63 HP:0003761
60 dermal atrophy63 53 Very frequent (99-80%) HP:0004334
61 premature loss of teeth63 HP:0006480
62 postnatal growth retardation63 HP:0008897
63 lipodystrophy63 HP:0009125
64 osteolytic defects of the distal phalanges of the hand63 53 Very frequent (99-80%) HP:0009839
65 large fontanelles53 Very frequent (99-80%)
66 absent eyelashes53 Occasional (29-5%)
67 hyperpigmentation of the skin53 Occasional (29-5%)
68 abnormality of the musculature53 Occasional (29-5%)
69 progeroid facial appearance53 Very frequent (99-80%)
70 aplasia/hypoplasia of the clavicles53 Very frequent (99-80%)

UMLS symptoms related to Mandibuloacral Dysplasia:


joint stiffness

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 Dysplasia26 24 LMNA, ZMPSTE24
2 Mandibuloacral Dysostosis26

Anatomical Context for Mandibuloacral Dysplasia

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MalaCards organs/tissues related to Mandibuloacral Dysplasia:

35
Skin, Bone

Animal Models for Mandibuloacral Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Mandibuloacral Dysplasia:

40
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:00053858.8BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
5MP:00053708.7AGPAT2, BSCL2, LMNA, RCE1, ZMPSTE24
6MP:00053868.2AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
7MP:00053788.2AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
8MP:00053678.2AGPAT2, BSCL2, LMNA, MMP9, ZMPSTE24
9MP:00107718.2AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
10MP:00107687.6AGPAT2, BSCL2, CBX1, LMNA, MMP9, RCE1

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
Mandibuloacral dysplasia. (24793088)
2014
6
Rapamycin treatment of Mandibuloacral Dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics. (25324471)
2014
7
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. (24639906)
2014
8
Hutchinson-gilford progeria versus mandibuloacral dysplasia. (24700965)
2014
9
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China. (25286833)
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
Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment. (22706480)
2012
13
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. (22935701)
2012
14
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. (22549407)
2012
15
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts. (21419220)
2011
16
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. (21267004)
2011
17
Elbow deformities in a patient with mandibuloacral dysplasia type A. (20949529)
2010
18
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. (20550970)
2010
19
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. (20814950)
2010
20
Mandibuloacral dysplasia type A in childhood. (19764019)
2009
21
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
22
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. (18435794)
2008
23
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. (18348272)
2008
24
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. (18554282)
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
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. (15998779)
2005
30
Mandibuloacral dysplasia: a report of two Egyptian cases. (16440877)
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
Mandibuloacral dysplasia with absent breast development. (12784312)
2003
34
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. (12788894)
2003
35
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. (14627682)
2003
36
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. (12913070)
2003
37
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. (11836320)
2002
38
Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. (11102943)
2000
39
Familial mandibuloacral dysplasia: report of an additional Italian patient. (10995511)
2000
40
Familial mandibuloacral dysplasia--a report of four cases. (9732012)
1998
41
Lethal neonatal mandibuloacral dysplasia. (8957511)
1996
42
Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma. (7593806)
1995
43
Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. (1736653)
1992
44
A severe case of mandibuloacral dysplasia in a girl. (1642279)
1992
45
Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. (1939519)
1991
46
Mandibuloacral dysplasia as a form of idiopathic osteolysis. (1815190)
1991
47
Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy? (3717214)
1986
48
Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance. (6467666)
1984
49
Familial mandibuloacral dysplasia. (7317281)
1981
50
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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UniProtKB/Swiss-Prot genetic disease variations for Mandibuloacral Dysplasia:

69
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)SNVLikely pathogenic, 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:00301769.2BSCL2, RCE1

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

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:000708410.2BANF1, LMNA
2mitotic nuclear envelope disassemblyGO:000707710.1BANF1, LMNA
3nuclear envelope organizationGO:000699810.0LMNA, ZMPSTE24
4CAAX-box protein processingGO:00715869.8RCE1, ZMPSTE24
5proteolysisGO:00065088.8MMP9, RCE1, ZMPSTE24

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

idNameGO IDScoreTop Affiliating Genes
1endopeptidase activityGO:00041759.1MMP9, RCE1
2metalloendopeptidase activityGO:00042228.5MMP9, RCE1, ZMPSTE24

Sources for Mandibuloacral Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet