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

Aliases & Descriptions for Mandibuloacral Dysplasia:

Name: Mandibuloacral Dysplasia 54 50 24 25 56 29 13 52
Mandibuloacral Dysplasia with Type a Lipodystrophy 54 50 56 66
Mandibuloacral Dysostosis 25 29 69
Craniomandibular Dermatodysostosis 24 66
Mada 50 66
Mad 50 56
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia 50
Lipodystrophy Type a Associated with Mandibuloacral Dysplasia 66
Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical 66
Tendinous Calcinosis Arthropathy and Progeroid Features 66

Characteristics:

Orphanet epidemiological data:

56
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:

32
mandibuloacral dysplasia:
Inheritance autosomal recessive inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 248370
UMLS via Orphanet 70 C0432291
ICD10 via Orphanet 34 Q87.5
MESH via Orphanet 43 C535705

Summaries for Mandibuloacral Dysplasia

OMIM : 54 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 arthralgia, high palate and muscular hypotonia. An important gene associated with Mandibuloacral Dysplasia is LMNA (Lamin A/C), and among its related pathways/superpathways are Adipogenesis and Nuclear Envelope Reassembly. Affiliated tissues include skin, bone and breast, and related phenotypes are behavior/neurological and growth/size/body region

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 : 66 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

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 hutchinson-gilford progeria 30.2 AGPAT2 BANF1 BSCL2 CBX1 LMNA MMP9
2 mandibuloacral dysplasia with type b lipodystrophy 12.3
3 adenosine monophosphate deaminase 1 deficiency 11.0
4 cleidocranial dysplasia 10.9
5 adrenomyodystrophy 10.9
6 progeria 10.2
7 lipodystrophy 10.2
8 muscular dystrophy-dystroglycanopathy , type a, 3 10.2 LMNA ZMPSTE24
9 multiple myeloma 10.2 BSCL2 LMNA
10 thymus cancer 10.2 LMNA ZMPSTE24
11 heart-hand syndrome, slovenian type 10.1 LMNA ZMPSTE24
12 ventricular tachycardia, catecholaminergic polymorphic, 1 10.1 LMNA ZMPSTE24
13 maturity-onset diabetes of the young, type viii 10.1 AGPAT2 LMNA
14 elejalde disease 10.1 AGPAT2 ZMPSTE24
15 pituitary adenoma, prolactin-secreting 10.1 BSCL2 LMNA
16 harrod syndrome 10.1 LMNA ZMPSTE24
17 conotruncal heart malformations 10.1 BSCL2 LMNA
18 chchd10-related disorders 10.0 AGPAT2 BSCL2
19 phosphoglycerate dehydrogenase deficiency 10.0 LMNA ZMPSTE24
20 ceroid lipofuscinosis, neuronal, 13, kufs type 10.0 AGPAT2 BSCL2
21 diffuse lipomatosis 10.0 BANF1 LMNA ZMPSTE24
22 familial partial lipodystrophy 10.0
23 parametrium malignant neoplasm 9.9 BANF1 LMNA MMP9
24 ovarian stromal hyperthecosis 9.9 BSCL2 LMNA
25 hyperphosphatemia 9.9 AGPAT2 BSCL2 LMNA
26 muscular dystrophy 9.8
27 focal segmental glomerulosclerosis 9.8
28 congenital myopathy 9.8
29 myopathy 9.8
30 tooth agenesis 9.8 AGPAT2 BSCL2 LMNA ZMPSTE24
31 thymus clear cell carcinoma 9.8 AGPAT2 BSCL2 LMNA ZMPSTE24

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



Diseases related to Mandibuloacral Dysplasia

Symptoms & Phenotypes for Mandibuloacral Dysplasia

Symptoms by clinical synopsis from OMIM:

248370

Clinical features from OMIM:

248370

Human phenotypes related to Mandibuloacral Dysplasia:

56 32 (show top 50) (show all 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Occasional (29-5%) HP:0002829
2 high palate 56 32 Occasional (29-5%) HP:0000218
3 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
4 hearing impairment 56 32 Occasional (29-5%) HP:0000365
5 cataract 56 32 Occasional (29-5%) HP:0000518
6 abnormality of the teeth 56 32 Occasional (29-5%) HP:0000164
7 short stature 56 32 Very frequent (99-80%) HP:0004322
8 flexion contracture 56 32 Occasional (29-5%) HP:0001371
9 thin skin 56 32 Very frequent (99-80%) HP:0000963
10 lack of skin elasticity 56 32 Occasional (29-5%) HP:0100679
11 limitation of joint mobility 56 32 Very frequent (99-80%) HP:0001376
12 wormian bones 56 32 Very frequent (99-80%) HP:0002645
13 abnormality of the eyebrow 56 32 Frequent (79-30%) HP:0000534
14 hyperlipidemia 56 32 Frequent (79-30%) HP:0003077
15 alopecia 56 32 Very frequent (99-80%) HP:0001596
16 proptosis 56 32 Frequent (79-30%) HP:0000520
17 large fontanelles 56 32 Very frequent (99-80%) HP:0000239
18 short distal phalanx of finger 56 32 Very frequent (99-80%) HP:0009882
19 absent eyelashes 56 32 Occasional (29-5%) HP:0000561
20 breast aplasia 56 32 Occasional (29-5%) HP:0100783
21 hyperpigmentation of the skin 56 32 Occasional (29-5%) HP:0000953
22 insulin resistance 56 32 Frequent (79-30%) HP:0000855
23 aplasia/hypoplasia of the clavicles 56 32 Very frequent (99-80%) HP:0006710
24 progeroid facial appearance 56 32 Very frequent (99-80%) HP:0005328
25 dermal atrophy 56 32 Very frequent (99-80%) HP:0004334
26 osteolytic defects of the distal phalanges of the hand 56 32 Very frequent (99-80%) HP:0009839
27 acroosteolysis of distal phalanges (feet) 56 32 Very frequent (99-80%) HP:0001870
28 joint stiffness 32 HP:0001387
29 full cheeks 32 HP:0000293
30 micrognathia 32 HP:0000347
31 postnatal growth retardation 32 HP:0008897
32 hyperinsulinemia 32 HP:0000842
33 dental crowding 32 HP:0000678
34 prematurely aged appearance 56 Very frequent (99-80%)
35 abnormality of the musculature 56 Occasional (29-5%)
36 sparse scalp hair 32 HP:0002209
37 osteolysis 56 Very frequent (99-80%)
38 bird-like facies 32 HP:0000320
39 short clavicles 32 HP:0000894
40 delayed cranial suture closure 32 HP:0000270
41 insulin-resistant diabetes mellitus 32 HP:0000831
42 lipodystrophy 32 HP:0009125
43 premature loss of teeth 32 HP:0006480
44 glucose intolerance 32 HP:0000833
45 hyperglycemia 32 HP:0003074
46 mottled pigmentation 32 HP:0001070
47 loss of subcutaneous adipose tissue in limbs 32 HP:0003635
48 reduced subcutaneous adipose tissue 32 HP:0003758
49 hypoplasia of teeth 32 HP:0000685
50 increased adipose tissue around the neck 32 HP:0000468

UMLS symptoms related to Mandibuloacral Dysplasia:


joint stiffness

MGI Mouse Phenotypes related to Mandibuloacral Dysplasia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 AGPAT2 BSCL2 LMNA MMP9 RCE1 ZMPSTE24
2 growth/size/body region MP:0005378 9.85 AGPAT2 BSCL2 LMNA MMP9 RCE1 ZMPSTE24
3 digestive/alimentary MP:0005381 9.8 AGPAT2 BSCL2 LMNA MMP9 ZMPSTE24
4 integument MP:0010771 9.8 AGPAT2 BSCL2 LMNA MMP9 RCE1 ZMPSTE24
5 adipose tissue MP:0005375 9.76 AGPAT2 BSCL2 LMNA ZMPSTE24
6 limbs/digits/tail MP:0005371 9.56 AGPAT2 LMNA MMP9 ZMPSTE24
7 liver/biliary system MP:0005370 9.55 RCE1 ZMPSTE24 AGPAT2 BSCL2 LMNA
8 mortality/aging MP:0010768 9.5 AGPAT2 BSCL2 CBX1 LMNA MMP9 RCE1
9 renal/urinary system MP:0005367 9.02 AGPAT2 BSCL2 LMNA MMP9 ZMPSTE24

Drugs & Therapeutics for Mandibuloacral Dysplasia

Search Clinical Trials , NIH Clinical Center for Mandibuloacral Dysplasia

Genetic Tests for Mandibuloacral Dysplasia

Genetic tests related to Mandibuloacral Dysplasia:

id Genetic test Affiliating Genes
1 Mandibuloacral Dysplasia 29 24 ZMPSTE24 LMNA
2 Mandibuloacral Dysostosis 29

Anatomical Context for Mandibuloacral Dysplasia

MalaCards organs/tissues related to Mandibuloacral Dysplasia:

39
Skin, Bone, Breast

Publications for Mandibuloacral Dysplasia

Articles related to Mandibuloacral Dysplasia:

(show top 50) (show all 51)
id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 LMNA p.Arg527His VAR_018727 rs57520892
2 LMNA p.Ala529Val VAR_034709 rs60580541
3 LMNA p.Ser573Leu VAR_039789 rs60890628

ClinVar genetic disease variations for Mandibuloacral Dysplasia:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
2 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
3 LMNA NM_170707.3(LMNA): c.1411C> T (p.Arg471Cys) single nucleotide variant Pathogenic rs28928902 GRCh37 Chromosome 1, 156106742: 156106742
4 LMNA NM_170707.3(LMNA): c.1626G> C (p.Lys542Asn) single nucleotide variant Pathogenic rs56673169 GRCh37 Chromosome 1, 156107462: 156107462
5 LMNA NM_170707.3(LMNA): c.1586C> T (p.Ala529Val) single nucleotide variant Pathogenic rs60580541 GRCh37 Chromosome 1, 156107001: 156107001
6 LMNA NM_170707.3(LMNA): c.1318G> A (p.Val440Met) single nucleotide variant Pathogenic rs121912493 GRCh37 Chromosome 1, 156106165: 156106165
7 LMNA NM_170707.3(LMNA): c.1585G> A (p.Ala529Thr) single nucleotide variant Pathogenic rs121912494 GRCh37 Chromosome 1, 156107000: 156107000
8 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
9 LMNA NM_170707.3(LMNA): c.1488+1G> A single nucleotide variant Pathogenic rs267607640 GRCh37 Chromosome 1, 156106820: 156106820
10 LMNA NM_170707.3(LMNA): c.1583C> A (p.Thr528Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
11 LMNA NM_170707.3(LMNA): c.1620G> A (p.Met540Ile) single nucleotide variant Pathogenic rs483352811 GRCh37 Chromosome 1, 156107456: 156107456

Expression for Mandibuloacral Dysplasia

Search GEO for disease gene expression data for Mandibuloacral Dysplasia.

Pathways for Mandibuloacral Dysplasia

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

id Super pathways Score Top Affiliating Genes
1 11.04 AGPAT2 BSCL2 LMNA ZMPSTE24
2
Show member pathways
10.47 BANF1 LMNA

GO Terms for Mandibuloacral Dysplasia

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

id Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.26 AGPAT2 BSCL2 RCE1 ZMPSTE24
2 integral component of endoplasmic reticulum membrane GO:0030176 8.8 BSCL2 RCE1 ZMPSTE24

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

id Name GO ID Score Top Affiliating Genes
1 mitotic nuclear envelope disassembly GO:0007077 9.26 BANF1 LMNA
2 nuclear envelope organization GO:0006998 9.16 LMNA ZMPSTE24
3 mitotic nuclear envelope reassembly GO:0007084 8.96 BANF1 LMNA
4 CAAX-box protein processing GO:0071586 8.62 RCE1 ZMPSTE24

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

id Name GO ID Score Top Affiliating Genes
1 endopeptidase activity GO:0004175 8.96 MMP9 RCE1
2 metalloendopeptidase activity GO:0004222 8.8 MMP9 RCE1 ZMPSTE24

Sources for Mandibuloacral Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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