MCID: MND007
MIFTS: 51

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:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 25GTR, 12diseasecard, 48Novoseek, 68UniProtKB/Swiss-Prot, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mandibuloacral Dysplasia:

Name: Mandibuloacral Dysplasia 50 46 23 24 52 25 12 48
Mandibuloacral Dysplasia with Type a Lipodystrophy 50 46 52 68
Mandibuloacral Dysostosis 24 25 66
Craniomandibular Dermatodysostosis 23 68
Mada 46 68
 
Mad 46 52
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia 46
Lipodystrophy Type a Associated with Mandibuloacral Dysplasia 68
Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical 68
Tendinous Calcinosis Arthropathy and Progeroid Features 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
mandibuloacral dysplasia:
Inheritance: autosomal recessive inheritance, heterogeneous
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 248370
UMLS via Orphanet67 C0432291
ICD10 via Orphanet29 Q87.5
MESH via Orphanet38 C535705

Summaries for Mandibuloacral Dysplasia

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OMIM:50 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, bone and breast, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

Genetics Home Reference:24 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:68 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:69 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

Symptoms:

 52 (show all 30)
  • abnormality of the teeth
  • high palate
  • large fontanelles
  • hearing impairment
  • cataract
  • proptosis
  • abnormality of the eyebrow
  • absent eyelashes
  • insulin resistance
  • hyperpigmentation of the skin
  • thin skin
  • muscular hypotonia
  • flexion contracture
  • limitation of joint mobility
  • alopecia
  • acroosteolysis of distal phalanges (feet)
  • wormian bones
  • osteolysis
  • arthralgia
  • abnormality of the musculature
  • hyperlipidemia
  • short stature
  • dermal atrophy
  • progeroid facial appearance
  • aplasia/hypoplasia of the clavicles
  • prematurely aged appearance
  • osteolytic defects of the distal phalanges of the hand
  • short distal phalanx of finger
  • lack of skin elasticity
  • breast aplasia

HPO human phenotypes related to Mandibuloacral Dysplasia:

(show all 80)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 abnormality of the clavicle hallmark (90%) HP:0000889
3 limitation of joint mobility hallmark (90%) HP:0001376
4 alopecia hallmark (90%) HP:0001596
5 wormian bones hallmark (90%) HP:0002645
6 osteolysis hallmark (90%) HP:0002797
7 short stature hallmark (90%) HP:0004322
8 prematurely aged appearance hallmark (90%) HP:0007495
9 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
10 short distal phalanx of finger hallmark (90%) HP:0009882
11 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
12 micrognathia hallmark (90%) HP:0000347
13 convex nasal ridge hallmark (90%) HP:0000444
14 hypopigmented skin patches hallmark (90%) HP:0001053
15 skeletal dysplasia hallmark (90%) HP:0002652
16 arthralgia hallmark (90%) HP:0002829
17 lipoatrophy hallmark (90%) HP:0100578
18 proptosis typical (50%) HP:0000520
19 abnormality of the eyebrow typical (50%) HP:0000534
20 insulin resistance typical (50%) HP:0000855
21 abnormality of lipid metabolism typical (50%) HP:0003119
22 narrow mouth typical (50%) HP:0000160
23 abnormality of the teeth typical (50%) HP:0000164
24 hearing impairment typical (50%) HP:0000365
25 cataract typical (50%) HP:0000518
26 chondrocalcinosis typical (50%) HP:0000934
27 thin skin typical (50%) HP:0000963
28 muscular hypotonia typical (50%) HP:0001252
29 muscle weakness typical (50%) HP:0001324
30 flexion contracture typical (50%) HP:0001371
31 alopecia typical (50%) HP:0001596
32 abnormality of the nail typical (50%) HP:0001597
33 osteolysis typical (50%) HP:0002797
34 short nose typical (50%) HP:0003196
35 myopathy typical (50%) HP:0003198
36 lack of skin elasticity typical (50%) HP:0100679
37 abnormality of the teeth occasional (7.5%) HP:0000164
38 abnormality of the palate occasional (7.5%) HP:0000174
39 hearing impairment occasional (7.5%) HP:0000365
40 cataract occasional (7.5%) HP:0000518
41 abnormality of skin pigmentation occasional (7.5%) HP:0001000
42 muscular hypotonia occasional (7.5%) HP:0001252
43 arthralgia occasional (7.5%) HP:0002829
44 lack of skin elasticity occasional (7.5%) HP:0100679
45 breast aplasia occasional (7.5%) HP:0100783
46 insulin resistance occasional (7.5%) HP:0000855
47 abnormality of lipid metabolism occasional (7.5%) HP:0003119
48 high palate HP:0000218
49 delayed cranial suture closure HP:0000270
50 increased facial adipose tissue HP:0000287
51 full cheeks HP:0000293
52 bird-like facies HP:0000320
53 micrognathia HP:0000347
54 narrow nasal ridge HP:0000418
55 increased adipose tissue around the neck HP:0000468
56 proptosis HP:0000520
57 dental crowding HP:0000678
58 hypoplasia of teeth HP:0000685
59 insulin-resistant diabetes mellitus HP:0000831
60 glucose intolerance HP:0000833
61 hyperinsulinemia HP:0000842
62 short clavicles HP:0000894
63 progressive clavicular acroosteolysis HP:0000905
64 reduced subcutaneous adipose tissue HP:0001002
65 mottled pigmentation HP:0001070
66 flexion contracture HP:0001371
67 joint stiffness HP:0001387
68 alopecia HP:0001596
69 acroosteolysis of distal phalanges (feet) HP:0001870
70 sparse scalp hair HP:0002209
71 wormian bones HP:0002645
72 hyperglycemia HP:0003074
73 hyperlipidemia HP:0003077
74 loss of subcutaneous adipose tissue in limbs HP:0003635
75 calcinosis HP:0003761
76 dermal atrophy HP:0004334
77 premature loss of teeth HP:0006480
78 postnatal growth retardation HP:0008897
79 lipodystrophy HP:0009125
80 osteolytic defects of the distal phalanges of the hand HP:0009839

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 Dysplasia25 23 ZMPSTE24
2 Mandibuloacral Dysostosis25

Anatomical Context for Mandibuloacral Dysplasia

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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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MGI Mouse Phenotypes related to Mandibuloacral Dysplasia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.9AGPAT2, BSCL2, LMNA, ZMPSTE24
2MP:00053718.6AGPAT2, LMNA, MMP9, ZMPSTE24
3MP:00053818.4AGPAT2, BSCL2, LMNA, MMP9, ZMPSTE24
4MP:00053708.3AGPAT2, BSCL2, LMNA, RCE1, ZMPSTE24
5MP:00053678.2AGPAT2, BSCL2, LMNA, MMP9, ZMPSTE24
6MP:00053858.0BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
7MP:00107717.8AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
8MP:00053787.2AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
9MP:00053867.0AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
10MP:00107687.0AGPAT2, 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:

68
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg527HisVAR_018727
2LMNAp.Ala529ValVAR_034709
3LMNAp.Ser573LeuVAR_039789

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)single nucleotide variantPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
2LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
3LMNANM_170707.3(LMNA): c.1411C> T (p.Arg471Cys)single nucleotide variantPathogenicrs28928902GRCh37Chr 1, 156106742: 156106742
4LMNANM_170707.3(LMNA): c.1626G> C (p.Lys542Asn)single nucleotide variantPathogenicrs56673169GRCh37Chr 1, 156107462: 156107462
5LMNANM_170707.3(LMNA): c.1586C> T (p.Ala529Val)single nucleotide variantPathogenicrs60580541GRCh37Chr 1, 156107001: 156107001
6LMNANM_170707.3(LMNA): c.1585G> A (p.Ala529Thr)single nucleotide variantPathogenicrs121912494GRCh37Chr 1, 156107000: 156107000
7LMNANM_170707.3(LMNA): c.1488+1G> Asingle nucleotide variantPathogenicrs267607640GRCh37Chr 1, 156106820: 156106820
8LMNANM_170707.3(LMNA): c.1583C> A (p.Thr528Lys)single nucleotide variantLikely 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:000708410.3BANF1, 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:00042228.8MMP9, RCE1, ZMPSTE24

Sources for Mandibuloacral Dysplasia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet