MCID: MND007
MIFTS: 50

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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mandibuloacral Dysplasia:

Name: Mandibuloacral Dysplasia 49 11 45 22 23 47 51 24
Mandibuloacral Dysplasia with Type a Lipodystrophy 45 51 67
Mandibuloacral Dysostosis 23 24 65
Craniomandibular Dermatodysostosis 22 67
Mada 45 67
 
Mad 45 51
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia 45
Lipodystrophy Type a Associated with Mandibuloacral Dysplasia 67
Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical 67
Tendinous Calcinosis Arthropathy and Progeroid Features 67

Characteristics:

Orphanet epidemiological data:

51
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:

61
mandibuloacral dysplasia:
Onset and clinical course: juvenile onset
Inheritance: heterogeneous, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 248370
Orphanet51 2457, 90153
UMLS via Orphanet66 C0432291
ICD10 via Orphanet28 Q87.5
MESH via Orphanet37 C535705
UMLS65 C0432291

Summaries for Mandibuloacral Dysplasia

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OMIM:49 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 short distal phalanx of finger, aplasia/hypoplasia of the skin and prematurely aged appearance. An important gene associated with Mandibuloacral Dysplasia is LMNA (Lamin A/C), and among its related pathways are Initiation of Nuclear Envelope Reformation and Adipogenesis. Affiliated tissues include skin, bone and breast, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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).

Wikipedia:68 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:

 51 (show all 48)
  • skull/cranial anomalies
  • large fontanelle/delayed fontanelle closure
  • face/facial anomalies
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hypoplastic mandibula/partial absence of the mandibula
  • beaked nose
  • clavicle absent/abnormal
  • lipoatrophy
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/patchy skin hypopigmentation
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • premature ageing
  • cataract/lens opacification
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • short/small nose
  • anomalies of mouth, lip and philtrum
  • microstomia/little mouth
  • anomalies of teeth and dentition
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • hearing loss/hypoacusia/deafness
  • thin skin
  • tight skin/lack of elasticity
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • alopecia
  • nails anomalies
  • hypotonia
  • myopathy
  • muscle weakness/flaccidity
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • osteolysis/osteoclasia/bone destruction/erosions
  • periarticular tissue anomaly/extraarticular calcifications
  • insulin resistance
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • early death/lethality
  • wormian bones
  • terminal/third phalangeal bone of fingers hypoplasia
  • skin hypoplasia/aplasia/atrophy
  • proptosis/exophthalmos
  • high vaulted/narrow palate
  • breast tissue/mammary gland absence/aplasia
  • muscle anomalies
  • anomalies of cartilages, joints and periarticular tissue

HPO human phenotypes related to Mandibuloacral Dysplasia:

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

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 Dysplasia22 ZMPSTE24

Anatomical Context for Mandibuloacral Dysplasia

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MalaCards organs/tissues related to Mandibuloacral Dysplasia:

33
Skin, Bone, Breast, Thyroid, Monocytes, Fetal brain, Endothelial

Animal Models for Mandibuloacral Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Mandibuloacral Dysplasia:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0AGPAT2, LMNA, MMP9, ZMPSTE24
2MP:00053758.9AGPAT2, BSCL2, LMNA, ZMPSTE24
3MP:00053698.5LMNA, MMP9, RCE1, ZMPSTE24
4MP:00053818.4AGPAT2, BSCL2, LMNA, MMP9, ZMPSTE24
5MP:00053678.4AGPAT2, BSCL2, LMNA, MMP9, ZMPSTE24
6MP:00053708.3AGPAT2, BSCL2, LMNA, RCE1, ZMPSTE24
7MP:00107717.7AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
8MP:00053857.7BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
9MP:00053867.6AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
10MP:00053877.6AGPAT2, BSCL2, CBX1, LMNA, MMP9, ZMPSTE24
11MP:00053787.2AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
12MP:00053766.9AGPAT2, BSCL2, CBX1, LMNA, MMP9, RCE1
13MP:00107686.8AGPAT2, BSCL2, CBX1, LMNA, MMP9, RCE1

Publications for Mandibuloacral Dysplasia

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Articles related to Mandibuloacral Dysplasia:

(show all 50)
idTitleAuthorsYear
1
Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development. (27100822)
2016
2
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A. (26602028)
2016
3
Mandibuloacral Dysplasia Type B in an Infant: A Rare Progeroid Genodermatosis. (25629449)
2015
4
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. (24639906)
2014
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
Mandibuloacral dysplasia. (24793088)
2014
8
Rapamycin treatment of Mandibuloacral Dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics. (25324471)
2014
9
Precautions in using a perforator free flap to treat mandibuloacral dysplasia-a case report. (24123119)
2013
10
Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers. (23775434)
2013
11
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. (22549407)
2012
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
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts. (21419220)
2011
15
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. (21267004)
2011
16
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. (20814950)
2010
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
Mandibuloacral dysplasia type A in childhood. (19764019)
2009
20
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)
2008
21
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. (18435794)
2008
22
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. (18348272)
2008
23
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. (18554282)
2008
24
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. (17935239)
2007
25
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. (17848409)
2007
26
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (17152860)
2006
27
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. (15998779)
2005
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 case of mandibuloacral dysplasia presenting with features of scleroderma. (15311567)
2004
31
Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. (15473259)
2004
32
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. (12913070)
2003
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
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. (11836320)
2002
37
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. (12075506)
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:

67
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.1620G> A (p.Met540Ile)single nucleotide variantLikely pathogenicrs483352811GRCh37Chr 1, 156107456: 156107456
2LMNANM_170707.3(LMNA): c.1579C> T (p.Arg527Cys)single nucleotide variantPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
3LMNANM_170707.3(LMNA): c.1580G> A (p.Arg527His)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
4LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
5LMNANM_170707.3(LMNA): c.1411C> T (p.Arg471Cys)single nucleotide variantPathogenicrs28928902GRCh37Chr 1, 156106742: 156106742
6LMNANM_170707.3(LMNA): c.1626G> C (p.Lys542Asn)single nucleotide variantPathogenicrs56673169GRCh37Chr 1, 156107462: 156107462
7LMNANM_170707.3(LMNA): c.1586C> T (p.Ala529Val)single nucleotide variantPathogenicrs60580541GRCh37Chr 1, 156107001: 156107001
8LMNANM_170707.3(LMNA): c.1585G> A (p.Ala529Thr)single nucleotide variantPathogenicrs121912494GRCh37Chr 1, 156107000: 156107000
9LMNANM_170707.3(LMNA): c.1488+1G> Asingle nucleotide variantPathogenicrs267607640GRCh37Chr 1, 156106820: 156106820
10LMNANM_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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Biological processes related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:00069989.8LMNA, ZMPSTE24
2mitotic nuclear envelope reassemblyGO:00070849.6BANF1, LMNA

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

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00042229.1MMP9, RCE1

Sources for Mandibuloacral Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet