MCID: MND007
MIFTS: 57

Mandibuloacral Dysplasia malady

Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases categories

Aliases & Classifications for Mandibuloacral Dysplasia

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet, 62UMLS via Orphanet, 34MESH via Orphanet
See all sources

Aliases & Descriptions for Mandibuloacral Dysplasia:

Name: Mandibuloacral Dysplasia 46 9 42 20 21 44 48 22
Mandibuloacral Dysostosis 21 22 61
Mandibuloacral Dysplasia with Type a Lipodystrophy 42 48
 
Mad 42 48
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia 42
Mada 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 248370
Orphanet48 2457, 90153
ICD10 via Orphanet26 Q87.5
UMLS via Orphanet62 C0432291
MESH via Orphanet34 C535705

Summaries for Mandibuloacral Dysplasia

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OMIM:46 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 dysostosis, is related to progeria and lipodystrophy, and has symptoms including abnormality of the fontanelles or cranial sutures, micrognathia and convex nasal ridge. An important gene associated with Mandibuloacral Dysplasia is LMNA (lamin A/C), and among its related pathways are Nuclear Envelope Reassembly and Celecoxib Pathway, Pharmacodynamics. The compounds hydroxamate and 1,10-phenanthroline have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and breast, and related mouse phenotypes are limbs/digits/tail and vision/eye.

Genetics Home Reference:21 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:64 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 38)
idRelated DiseaseScoreTop Affiliating Genes
1progeria30.8LMNA, ZMPSTE24, RCE1, BANF1
2lipodystrophy29.9PPARG, BSCL2, INS, LMNA, ZMPSTE24, AGPAT2
3familial partial lipodystrophy29.8PPARG, BSCL2, INS, LMNA, AGPAT2
4mandibuloacral dysplasia with type b lipodystrophy10.6
5distal hereditary motor neuropathy10.4AGPAT2
6restrictive dermopathy, lethal10.4LMNA, ZMPSTE24
7hutchinson-gilford progeria10.3
8morbid obesity10.3INS
9emery-dreifuss muscular dystrophy10.3LMNA, BANF1
10berardinelli-seip congenital lipodystrophy10.3BSCL2, AGPAT2
11adenosine monophosphate deaminase deficiency10.2
12cleidocranial dysplasia10.2
13focal segmental glomerulosclerosis10.2
14glomerulosclerosis10.2
15muscular dystrophy10.2
16myopathy10.2
17scleroderma10.2
18prediabetes syndrome10.0PPARG, INS
19idiopathic edema10.0INS, PPARG
20hyperinsulinism9.9INS, PPARG
21fatty liver disease9.9PPARG, INS
22hyperandrogenism9.9PPARG, INS, LMNA
23acanthosis nigricans9.9AGPAT2, LMNA, INS, BSCL2
24lipid metabolism disorder9.9LMNA, INS, PPARG
25polycystic ovary syndrome9.9LMNA, INS, PPARG
26glucose intolerance9.9INS, PPARG
27stroke, ischemic9.8INS, MMP9
28metabolic syndrome x9.8PPARG, INS, LMNA
29hypertriglyceridemia9.8INS, BSCL2, PPARG
30diabetes mellitus, noninsulin-dependent9.8PPARG, INS, LMNA
31congenital heart disease9.7PPARG, INS, MMP9
32hypertension, essential9.7MMP9, INS, PPARG
33obesity9.7LMNA, INS, PPARG
34vascular disease9.7MMP9, INS, PPARG
35coronary artery disease9.6MMP9, LMNA, INS, PPARG
36pancreatic cancer9.6MMP9, INS, PPARG
37atherosclerosis9.6MMP9, LMNA, INS, PPARG
38diabetes mellitus, insulin-dependent9.4PPARG, BSCL2, INS, LMNA, MMP9

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:

 48 (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 83)
id Description Frequency HPO Source Accession
1 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
2 micrognathia hallmark (90%) HP:0000347
3 convex nasal ridge hallmark (90%) HP:0000444
4 abnormality of the clavicles hallmark (90%) HP:0000889
5 hypopigmented skin patches hallmark (90%) HP:0001053
6 limitation of joint mobility hallmark (90%) HP:0001376
7 skeletal dysplasia hallmark (90%) HP:0002652
8 arthralgia hallmark (90%) HP:0002829
9 short stature hallmark (90%) HP:0004322
10 prematurely aged appearance hallmark (90%) HP:0007495
11 lipoatrophy hallmark (90%) HP:0100578
12 abnormality of the teeth hallmark (90%) HP:0000164
13 alopecia hallmark (90%) HP:0001596
14 wormian bones hallmark (90%) HP:0002645
15 osteolysis hallmark (90%) HP:0002797
16 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
17 short distal phalanx of finger hallmark (90%) HP:0009882
18 narrow mouth typical (50%) HP:0000160
19 abnormality of the teeth typical (50%) HP:0000164
20 hearing impairment typical (50%) HP:0000365
21 cataract typical (50%) HP:0000518
22 abnormality of the eyebrow typical (50%) HP:0000534
23 chondrocalcinosis typical (50%) HP:0000934
24 thin skin typical (50%) HP:0000963
25 muscular hypotonia typical (50%) HP:0001252
26 muscle weakness typical (50%) HP:0001324
27 flexion contracture typical (50%) HP:0001371
28 alopecia typical (50%) HP:0001596
29 abnormality of the nail typical (50%) HP:0001597
30 osteolysis typical (50%) HP:0002797
31 short nose typical (50%) HP:0003196
32 myopathy typical (50%) HP:0003198
33 lack of skin elasticity typical (50%) HP:0100679
34 proptosis typical (50%) HP:0000520
35 insulin resistance typical (50%) HP:0000855
36 abnormality of lipid metabolism typical (50%) HP:0003119
37 insulin resistance occasional (7.5%) HP:0000855
38 abnormality of lipid metabolism occasional (7.5%) HP:0003119
39 abnormality of the teeth occasional (7.5%) HP:0000164
40 abnormality of the palate occasional (7.5%) HP:0000174
41 hearing impairment occasional (7.5%) HP:0000365
42 cataract occasional (7.5%) HP:0000518
43 abnormality of skin pigmentation occasional (7.5%) HP:0001000
44 muscular hypotonia occasional (7.5%) HP:0001252
45 arthralgia occasional (7.5%) HP:0002829
46 lack of skin elasticity occasional (7.5%) HP:0100679
47 breast aplasia occasional (7.5%) HP:0100783
48 autosomal recessive inheritance HP:0000007
49 high palate HP:0000218
50 delayed cranial suture closure HP:0000270
51 increased facial adipose tissue HP:0000287
52 full cheeks HP:0000293
53 bird-like facies HP:0000320
54 micrognathia HP:0000347
55 narrow nasal ridge HP:0000418
56 increased adipose tissue around the neck HP:0000468
57 proptosis HP:0000520
58 dental crowding HP:0000678
59 hypoplasia of teeth HP:0000685
60 insulin-resistant diabetes mellitus HP:0000831
61 glucose intolerance HP:0000833
62 hyperinsulinemia HP:0000842
63 short clavicles HP:0000894
64 progressive clavicular acroosteolysis HP:0000905
65 decreased subcutaneous fat HP:0001002
66 mottled pigmentation HP:0001070
67 flexion contracture HP:0001371
68 joint stiffness HP:0001387
69 heterogeneous HP:0001425
70 alopecia HP:0001596
71 acroosteolysis of distal phalanges (feet) HP:0001870
72 sparse scalp hair HP:0002209
73 wormian bones HP:0002645
74 hyperglycemia HP:0003074
75 hyperlipidemia HP:0003077
76 juvenile onset HP:0003621
77 loss of subcutaneous adipose tissue in limbs HP:0003635
78 calcinosis HP:0003761
79 dermal atrophy HP:0004334
80 premature loss of teeth HP:0006480
81 postnatal growth retardation HP:0008897
82 lipodystrophy HP:0009125
83 osteolytic defects of the distal phalanges of the hand HP:0009839

Drugs & Therapeutics for Mandibuloacral Dysplasia

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Drug clinical trials:

Search ClinicalTrials for Mandibuloacral Dysplasia

Search 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 Dysplasia20 22 ZMPSTE24
2 Mandibuloacral Dysostosis22

Anatomical Context for Mandibuloacral Dysplasia

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MalaCards organs/tissues related to Mandibuloacral Dysplasia:

31
Skin, Bone, Breast

Animal Models for Mandibuloacral Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Mandibuloacral Dysplasia:

35 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9LMNA, MMP9, ZMPSTE24, AGPAT2
2MP:00053918.6MMP9, LMNA, INS, PPARG
3MP:00053818.4AGPAT2, LMNA, BSCL2, INS, MMP9
4MP:00053758.2PPARG, AGPAT2, BSCL2, ZMPSTE24, LMNA, INS
5MP:00053908.0LMNA, AGPAT2, ZMPSTE24, INS, PPARG, MMP9
6MP:00053897.9LMNA, INS, BSCL2, PPARG, MMP9
7MP:00053847.8PPARG, MMP9, BSCL2, INS, LMNA, ZMPSTE24
8MP:00053677.8BSCL2, AGPAT2, ZMPSTE24, MMP9, PPARG, LMNA
9MP:00053977.6LMNA, AGPAT2, PPARG, INS, ZMPSTE24, MMP9
10MP:00053697.6ZMPSTE24, MMP9, LMNA, INS, RCE1, PPARG
11MP:00053707.4AGPAT2, PPARG, BSCL2, INS, LMNA, ZMPSTE24
12MP:00053857.2ZMPSTE24, RCE1, MMP9, LMNA, INS, BSCL2
13MP:00053877.2MMP9, CBX1, LMNA, PPARG, BSCL2, AGPAT2
14MP:00107717.0PPARG, BSCL2, INS, LMNA, MMP9, ZMPSTE24
15MP:00053866.9INS, LMNA, MMP9, RCE1, AGPAT2, PPARG
16MP:00053786.9AGPAT2, ZMPSTE24, MMP9, LMNA, INS, BSCL2
17MP:00053766.4INS, LMNA, PPARG, MMP9, CBX1, RCE1
18MP:00107686.4AGPAT2, RCE1, ZMPSTE24, CBX1, MMP9, LMNA

Publications for Mandibuloacral Dysplasia

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Articles related to Mandibuloacral Dysplasia:

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

63
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 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_005572.3(LMNA): c.1620G> A (p.Met540Ile)single nucleotide variantLikely pathogenicrs483352811GRCh37Chr 1, 156107456: 156107456
2LMNANM_005572.3(LMNA): c.1579C> T (p.Arg527Cys)single nucleotide variantPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
3LMNANM_005572.3(LMNA): c.1580G> A (p.Arg527His)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
4LMNANM_005572.3(LMNA): c.1626G> C (p.Lys542Asn)single nucleotide variantPathogenicrs56673169GRCh37Chr 1, 156107462: 156107462
5LMNANM_005572.3(LMNA): c.1586C> T (p.Ala529Val)single nucleotide variantPathogenicrs60580541GRCh37Chr 1, 156107001: 156107001
6LMNANM_005572.3(LMNA): c.1585G> A (p.Ala529Thr)single nucleotide variantPathogenicrs121912494GRCh37Chr 1, 156107000: 156107000
7ZMPSTE24NM_005857.4(ZMPSTE24): c.1349G> A (p.Trp450Ter)single nucleotide variantPathogenicrs281875376GRCh37Chr 1, 40758262: 40758262
8ZMPSTE24NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs)duplicationPathogenicrs137854889GRCh37Chr 1, 40756551: 40756552
9ZMPSTE24NM_005857.4(ZMPSTE24): c.1018T> C (p.Trp340Arg)single nucleotide variantPathogenicrs121908093GRCh37Chr 1, 40751660: 40751660
10ZMPSTE24NM_005857.4(ZMPSTE24): c.121C> T (p.Gln41Ter)single nucleotide variantPathogenicrs121908094GRCh37Chr 1, 40724064: 40724064
11ZMPSTE24NM_005857.4(ZMPSTE24): c.743C> T (p.Pro248Leu)single nucleotide variantPathogenicrs121908095GRCh37Chr 1, 40737681: 40737681

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8LMNA, BANF1
29.5MMP9, PPARG
39.4MMP9, INS
4
Show member pathways
Cholesterol biosynthesis36
lanosterol biosynthesis36
zymosterol biosynthesis36
mevalonate pathway I36
epoxysqualene biosynthesis36
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)36
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)36
trans, trans-farnesyl diphosphate biosynthesis36
cholesterol biosynthesis I36
cholesterol biosynthesis III (via desmosterol)36
geranylgeranyldiphosphate biosynthesis36
9.3RCE1, ZMPSTE24
57.9AGPAT2, ZMPSTE24, LMNA, INS, BSCL2, PPARG

Compounds for genes affiliated with Mandibuloacral Dysplasia

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

(show all 38)
idCompoundScoreTop Affiliating Genes
1hydroxamate4410.0ZMPSTE24, MMP9
21,10-phenanthroline44 111.0ZMPSTE24, MMP9
3indinavir44 50 1112.0PPARG, LMNA
4gw966244 2810.9MMP9, PPARG
5batimastat44 60 1111.9MMP9, ZMPSTE24
6irbesartan44 28 50 1112.9MMP9, PPARG
7ciglitazone44 2810.8MMP9, PPARG
8actos449.8PPARG, INS
9hbig449.7INS, PPARG
10mitiglinide44 1110.7PPARG, INS
11glipizide44 50 1111.7PPARG, INS
12acarbose44 1110.7PPARG, INS
13repaglinide50 44 1111.7PPARG, INS
14nateglinide44 50 1111.7PPARG, INS
15glimepiride44 50 1111.7PPARG, INS
16telmisartan44 28 1111.7INS, PPARG
17orlistat44 60 1111.7PPARG, INS
188-isoprostane449.7INS, MMP9
19thiazolidinedione449.7INS, PPARG
20gemfibrozil28 44 1111.6INS, PPARG
21niacin44 1110.6PPARG, INS
22aicar44 24 1111.6INS, PPARG
23l-nmma449.6PPARG, MMP9
24bezafibrate44 28 1111.6INS, PPARG
25alpha lipoic acid449.5INS, MMP9
26ritonavir44 50 1111.4PPARG, INS
27tripeptide449.3RCE1, ZMPSTE24
28fenofibrate44 50 1111.3PPARG, INS, MMP9
29pioglitazone28 44 50 1112.3PPARG, INS, MMP9
30troglitazone44 28 60 1112.3PPARG, INS, MMP9
312-deoxyglucose44 1110.2PPARG, INS
32zinc44 2410.2MMP9, LMNA, ZMPSTE24, CBX1
33cholesterol44 28 24 1112.1ZMPSTE24, PPARG, LMNA, INS
34ly294002449.1PPARG, MMP9, INS
35metformin44 50 1111.0PPARG, INS
36rosiglitazone28 44 50 24 1113.0MMP9, LMNA, INS, PPARG
37alanine448.9PPARG, INS, LMNA, MMP9
38lipid448.7AGPAT2, PPARG, INS, LMNA

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
1nucleoplasmGO:00056548.8BANF1, CBX1, LMNA, PPARG

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

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:00070849.8BANF1, LMNA
2mitotic nuclear envelope disassemblyGO:00070779.8BANF1, LMNA
3negative regulation of acute inflammatory responseGO:00026749.4INS, PPARG
4negative regulation of lipid catabolic processGO:00509959.3BSCL2, INS
5proteolysisGO:00065088.6RCE1, ZMPSTE24, MMP9

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

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00042228.9RCE1, ZMPSTE24, MMP9

Sources for Mandibuloacral Dysplasia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet