Mandibuloacral Dysplasia malady

Wikipedia: Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia,...⁴⁴ more...

MalaCards: Mandibuloacral Dysplasia, also known as craniomandibular dermatodysostosis, is related to progeria and lipodystrophy. An important gene associated with Mandibuloacral Dysplasia is ZMPSTE24 (zinc metallopeptidase STE24 homolog (S. cerevisiae)). The compounds hydroxamate and 1,10-phenanthroline have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are hematopoietic system and integument.

OMIM: 248370

mandibuloacral dysplasia 16 33 32 craniomandibular dermatodysostosis 16

mandibuloacral dysostosis 43

Diseases related to mandibuloacral dysplasia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 71)

id	Related Disease	Score	Top Affiliating Genes
1	progeria	30.3	INS, ZMPSTE24, LMNA
2	lipodystrophy	29.1	AGPAT2, PPARG, INS, ZMPSTE24, LMNA, BSCL2
3	focal segmental glomerulosclerosis	28.9	INS, ZMPSTE24, LMNA
4	familial partial lipodystrophy	28.2	PPARG, INS, LMNA
5	insulin resistance	26.0	BSCL2, LMNA, MMP9, INS, PPARG, AGPAT2
6	diabetes mellitus	26.0	MMP9, INS, PPARG, AGPAT2, LMNA, BSCL2
7	tight skin contracture syndrome, lethal	13.3	LMNA, ZMPSTE24
8	restrictive dermopathy	13.3	ZMPSTE24, LMNA
9	congenital generalized lipodystrophy	13.1	BSCL2, AGPAT2
10	atypical werner syndrome	13.1	INS, LMNA
11	hajdu-cheney syndrome	12.9	ZMPSTE24, LMNA, RCE1
12	distal hereditary motor neuropathy	12.9	AGPAT2, BSCL2
13	pancreatic islet cell tumors	12.6	INS, MMP9
14	prediabetes syndrome	12.6	INS, PPARG
15	carbohydrate metabolic disorder	12.6	PPARG, INS
16	lipoatrophic diabetes	12.6	PPARG, INS
17	carotid intimal medial thickness	12.5	INS, PPARG
18	metabolic syndrome x	12.5	INS, PPARG
19	calcinosis	12.5	ZMPSTE24, LMNA
20	diabetes, type 2	12.5	PPARG, INS
21	placental choriocarcinoma	12.4	INS, PPARG
22	myositis	12.4	LMNA, MMP9, INS
23	amyloidosis	12.4	ZMPSTE24, MMP9, INS
24	congestive heart failure	12.4	LMNA, MMP9, INS
25	salivary gland cancer	12.4	MMP9, PPARG
26	back pain	12.3	MMP9, INS
27	hyperandrogenism	12.2	LMNA, INS, PPARG
28	acanthosis nigricans	12.2	AGPAT2, INS, LMNA, BSCL2
29	glucose intolerance	12.2	PPARG, INS, LMNA
30	hyperinsulinism	12.2	LMNA, INS, PPARG
31	alopecia	12.2	LMNA, INS, PPARG
32	type 2 diabetes mellitus	12.0	PPARG, INS, LMNA
33	systemic scleroderma	12.0	LMNA, INS, PPARG
34	bilirubin metabolic disorder	11.9	PPARG, INS, LMNA
35	cerebrovascular accident	11.9	MMP9, INS, PPARG
36	ischemic heart disease	11.9	MMP9, INS, PPARG
37	cerebral infarction	11.9	PPARG, INS, MMP9
38	vascular disease	11.9	PPARG, INS, MMP9
39	congenital heart defect	11.9	MMP9, INS, PPARG
40	pituitary tumor	11.9	MMP9, INS, PPARG
41	hyperlipidemia	11.8	MMP9, INS, PPARG
42	hypercholesterolemia	11.8	MMP9, INS, PPARG
43	vasculitis	11.8	PPARG, INS, MMP9
44	diabetic retinopathy	11.7	PPARG, INS, MMP9
45	sleep apnea	11.6	LMNA, MMP9, INS, PPARG
46	apnea	11.6	PPARG, INS, MMP9, LMNA
47	coronary artery anomaly	11.6	LMNA, MMP9, INS, PPARG
48	atrial fibrillation	11.6	PPARG, INS, MMP9, LMNA
49	polycystic ovary syndrome	11.6	PPARG, INS, MMP9, LMNA
50	osteoporosis	11.6	PPARG, INS, MMP9, LMNA

Clinical features from OMIM: 248370

Approved drugs:

Drug clinical trials:

Genetic tests related to mandibuloacral dysplasia:

id	Genetic test	Affiliating Genes
1	Mandibuloacral Dysplasia clinical/research	LMNA, ZMPSTE24

MalaCards organs/tissues related to mandibuloacral dysplasia:

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MGI Mouse Phenotypes related to mandibuloacral dysplasia:

²⁵ (show all 15)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.7	AGPAT2, BSCL2
2	integument phenotype	MP:0010771	9.2	AGPAT2, BSCL2, ZMPSTE24, RCE1
3	limbs/digits/tail phenotype	MP:0005371	8.7	ZMPSTE24, MMP9, AGPAT2, LMNA
4	growth/size phenotype	MP:0005378	8.2	LMNA, ZMPSTE24, INS, AGPAT2, BSCL2, RCE1
5	digestive/alimentary phenotype	MP:0005381	8.0	LMNA, MMP9, BSCL2, INS, AGPAT2
6	adipose tissue phenotype	MP:0005375	7.9	BSCL2, LMNA, ZMPSTE24, PPARG, AGPAT2, INS
7	muscle phenotype	MP:0005369	7.7	ZMPSTE24, RCE1, PPARG, LMNA, MMP9
8	liver/biliary system phenotype	MP:0005370	7.5	BSCL2, RCE1, AGPAT2, LMNA, ZMPSTE24, INS
9	skeleton phenotype	MP:0005390	7.5	LMNA, AGPAT2, ZMPSTE24, MMP9, INS, PPARG
10	renal/urinary system phenotype	MP:0005367	7.2	BSCL2, LMNA, ZMPSTE24, MMP9, INS, PPARG
11	cardiovascular system phenotype	MP:0005385	7.2	BSCL2, INS, PPARG, RCE1, MMP9, ZMPSTE24
12	immune system phenotype	MP:0005387	7.0	AGPAT2, BSCL2, PPARG, INS, LMNA, MMP9
13	behavior/neurological phenotype	MP:0005386	6.8	RCE1, BSCL2, ZMPSTE24, MMP9, INS, PPARG
14	homeostasis/metabolism phenotype	MP:0005376	6.8	AGPAT2, BSCL2, ZMPSTE24, MMP9, INS, PPARG
15	mortality/aging	MP:0010768	6.3	MMP9, PPARG, INS, ZMPSTE24, LMNA, BSCL2

Articles related to mandibuloacral dysplasia:

(show all 18)

id	Title	Authors	Year	Affiliating Genes
1	Skeletal phenotype of mandibuloacral dysplasia associ ated with mutations in ZMPSTE24. (20550970)	Cunningham V.J.... Cundy T.	2010	ZMPSTE24
2	Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. (20814950)	Ahmad Z.... Garg A.	2010	ZMPSTE24
3	Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. (18796515)	Agarwal A.K.... Garg A.	2008	LMNA, ZMPSTE24
4	Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. (18435794)	Miyoshi Y.... Ozono K.	2008	LMNA, ZMPSTE24
5	Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. (18348272)	Zirn B.... Hahn A.	2008	LMNA
6	Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. (18554282)	Lombardi F.... Novelli G.	2008	MMP9, LMNA
7	Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. (17848409)	Lombardi F.... Novelli G.	2007	LMNA
8	Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. (17935239)	Kosho T.... Fukushima Y.	2007	LMNA
9	Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. (17152860)	Agarwal A.K.... Garg A.	2006	LMNA, ZMPSTE24
10	Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. (16046620)	Filesi I.... Novelli G.	2005	LMNA, CBX1
11	A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. (15998779)	Garg A.... Agarwal A.K.	2005	LMNA, ZMPSTE24
12	Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. (15473259)	Amati F.... Novelli G.	2004	LMNA
13	Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. (12788894)	Simha V.... Garg A.	2003	PPARG, LMNA, AGPAT2
14	Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. (14627682)	Shen J.J.... Potocki L.	2003	LMNA
15	Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. (12913070)	Agarwal A.K.... Garg A.	2003	LMNA, ZMPSTE24, RCE1
16	Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. (11836320)	Simha V.... Garg A.	2002	INS
17	Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. (12075506)	Novelli G.... Bonne G.	2002	LMNA
18	Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. (1939519)	Cutler D.L.... Freidenberg G.R.	1991	INS

Genes related to mandibuloacral dysplasia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ZMPSTE24	zinc metallopeptidase STE24 homolog (S. cerevisiae)	11.1	Summaries, Publications
2	LMNA	lamin A/C	11.0	Publications
3	RCE1	RCE1 homolog, prenyl protein protease (S. cerevisiae)	11.0	Publications
4	BSCL2	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	11.0	Publications
5	AGPAT2	1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)	11.0	Publications
6	CBX1	chromobox homolog 1	11.0	Publications
7	MMP9	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	11.0	Publications
8	PPARG	peroxisome proliferator-activated receptor gamma	11.0	Publications
9	INS	insulin	11.0	Publications

Compounds related to mandibuloacral dysplasia according to GeneDecks:

(show all 26)

id	Compound	Score	Top Affiliating Genes
1	hydroxamate32	9.7	MMP9, ZMPSTE24
2	1,10-phenanthroline32	9.5	MMP9, ZMPSTE24
3	actos32	9.5	PPARG, INS
4	hbig32	9.5	PPARG, INS
5	mitiglinide32 9 9	11.5	INS, PPARG
6	glipizide32 9 9	11.5	INS, PPARG
7	repaglinide32 42 9 9	12.5	INS, PPARG
8	acarbose32 42 9 9	12.4	PPARG, INS
9	glimepiride32 34 9 9	12.4	PPARG, INS
10	indinavir32 9 9	11.4	PPARG, LMNA
11	nateglinide32 42 9 9	12.4	INS, PPARG
12	orlistat32 42 9 9	12.4	INS, PPARG
13	telmisartan32 9 9	11.4	PPARG, INS
14	gw966232	9.3	PPARG, MMP9
15	gemfibrozil32 9 9	11.3	INS, PPARG
16	irbesartan32 9 9	11.3	MMP9, PPARG
17	thiazolidinedione32	9.3	INS, PPARG
18	8-isoprostane32	9.2	INS, MMP9
19	niacin32 9 9	11.1	INS, PPARG
20	ciglitazone32	9.1	MMP9, PPARG
21	fenofibrate32 9 9	10.9	INS, PPARG, MMP9
22	pioglitazone32 9 9	10.9	PPARG, INS, MMP9
23	troglitazone32 42 9 9	11.8	PPARG, INS, MMP9
24	cholesterol32 9 18 9	11.7	LMNA, ZMPSTE24, INS, PPARG
25	rosiglitazone32 9 18 9	11.5	MMP9, LMNA, PPARG, INS
26	zinc32 18	9.4	ZMPSTE24, LMNA, CBX1, MMP9

Biological processes related to mandibuloacral dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of lipid catabolic process	GO:050995	9.5	BSCL2, INS
2	negative regulation of acute inflammatory response	GO:002674	8.8	INS, PPARG

Molecular functions related to mandibuloacral dysplasia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	metalloendopeptidase activity	GO:004222	9.2	RCE1, ZMPSTE24, MMP9