Mandibuloacral dysplasia

Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.



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Narrow down the case reports



Total: 36 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
24
(17.5%)		 12629077
 A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
Caux F, Dubosclard E, Lascols O, Buendia B, Chazouilleres O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S.
J Clin Endocrinol Metab. 2003;88(3):1006-13.
Hepatic steatosis Lipodystrophy
INS
p|SUB|R|133|L;RS#:60864230 rs60864230
Adult Amino Acid Sequence Animals Conserved Sequence Diabetes Mellitus Fatty Liver Homo sapiens Hypertrophic Cardiomyopathy Insulin Resistance Lamin Type A Lipodystrophy Male Molecular Sequence Data Mutation
24
(17.5%)		 12075506
 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G.
Am J Hum Genet. 2002;71(2):426-31.
Insulin resistance Lipodystrophy
LMNA
p|SUB|R|527|H;RS#:57520892 rs57520892
Fibroblasts Fluorescent Antibody Technique Homo sapiens Lamin Type A Lamins Male Mutation Nuclear Proteins Sequence Analysis, DNA Short Tandem Repeat
33
(4.0%)		 24120468
 Transcatheter aortic valve implantation in a very young patient.
Faria R, Caeiro D, Fontes de Carvalho R, Lima F, Mota JC, Rodrigues A, Braga P, Gama V.
Rev Port Cardiol. 2013;32(10):827-31.
Respiratory failure
Aortic Valve Stenosis Catheterization Heart Valve Prosthesis Implantation Homo sapiens Male Young Adult
33
(4.0%)		 23497705
(3602076)
 Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.
Xiong Z, Lu Y, Xue J, Luo S, Xu X, Zhang L, Peng H, Li W, Chen D, Hu Z, Xia K.
J Med Case Rep. 2013;7:63.
Stroke
LMNA
p|SUB|R|527|C;RS#:57318642 rs57318642
33
(4.0%)		 21932319
 Nestor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
Cabanillas R, Cadinanos J, Villameytide JA, Perez M, Longo J, Richard JM, Alvarez R, Duran NS, Illan R, Gonzalez DJ, Lopez-Otin C.
Am J Med Genet A. 2011;155A(11):2617-25.
Diabetes mellitus
BANF1
Adult Bone Diseases, Developmental Child Child, Preschool DNA Mutational Analysis DNA-Binding Proteins Growth Disorders Homo sapiens Male Mutation Nuclear Proteins Phenotype Progeria Young Adult
33
(4.0%)		 18348272
 Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Muller U, Hahn A.
Am J Med Genet A. 2008;146A(8):1049-54.
Rigidity
LMNA
c|SUB|C|1411|T;RS#:28928902 p|SUB|R|471|C;RS#:28928902 rs28928902
Child Craniofacial Abnormalities Females Homo sapiens Homozygote Lamin Type A Muscular Dystrophy Mutation Phenotype Progeria
        

Phenotype(s) retrieved from Orphanet

    Total: 34

HPO ID Term Frequency
HP:0000218 High palate Very frequent (99-80%)
HP:0000293 Full cheeks Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000460 Narrow nose Very frequent (99-80%)
HP:0000468 Increased adipose tissue around the neck Very frequent (99-80%)
HP:0000842 Hyperinsulinemia Very frequent (99-80%)
HP:0000855 Insulin resistance Very frequent (99-80%)
HP:0000963 Thin skin Very frequent (99-80%)
HP:0001000 Abnormality of skin pigmentation Very frequent (99-80%)
HP:0003635 Loss of subcutaneous adipose tissue in limbs Very frequent (99-80%)
HP:0005781 Contractures of the large joints Very frequent (99-80%)
HP:0100578 Lipoatrophy Very frequent (99-80%)
HP:0000270 Delayed cranial suture closure Frequent (79-30%)
HP:0000678 Dental crowding Frequent (79-30%)
HP:0000685 Hypoplasia of teeth Frequent (79-30%)
HP:0000831 Insulin-resistant diabetes mellitus Frequent (79-30%)
HP:0000833 obsolete Glucose intolerance Frequent (79-30%)
HP:0000894 Short clavicles Frequent (79-30%)
HP:0000956 Acanthosis nigricans Frequent (79-30%)
HP:0001090 Abnormally large globe Frequent (79-30%)
HP:0001596 Alopecia Frequent (79-30%)
HP:0001804 Hypoplastic fingernail Frequent (79-30%)
HP:0001870 Acroosteolysis of distal phalanges (feet) Frequent (79-30%)
HP:0002155 Hypertriglyceridemia Frequent (79-30%)
HP:0003124 Hypercholesterolemia Frequent (79-30%)
HP:0003809 Reduced intrathoracic adipose tissue Frequent (79-30%)
HP:0008070 Sparse hair Frequent (79-30%)
HP:0008897 Postnatal growth retardation Frequent (79-30%)
HP:0008993 Increased intraabdominal fat Frequent (79-30%)
HP:0009003 Increased subcutaneous truncal adipose tissue Frequent (79-30%)
HP:0009839 Osteolytic defects of the distal phalanges of the hand Frequent (79-30%)
HP:0011334 Facial shape deformation Frequent (79-30%)
HP:0030781 Increased circulating free fatty acid level Frequent (79-30%)
HP:0030809 Abnormal tongue morphology Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 12

HPO ID Term # of case reports
HP:0009125 Lipodystrophy 12
HP:0002797 Osteolysis 5
HP:0000819 Diabetes mellitus 2
HP:0000270 Delayed cranial suture closure 1
HP:0000347 Micrognathia 1
HP:0000491 Keratitis 1
HP:0001029 Poikiloderma 1
HP:0001070 Mottled pigmentation 1
HP:0001638 Cardiomyopathy 1
HP:0003040 Arthropathy 1
HP:0008070 Sparse hair 1
HP:0009064 Generalized lipodystrophy 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID