KEGG   DISEASE: Mandibuloacral dysplasia
Entry
H00665                      Disease                                

Name
Mandibuloacral dysplasia
  Supergrp
Lipodystrophy [DS:H01475]
Description
Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by postnatal growth retardation, hypoplasia of the mandible and clavicles, acro-osteolysis, and partial lipodystrophy. Affected individuals have a normal appearance at birth, then progressively develop dysmorphic skeletal features. Mutations in LMNA or ZMPSTE24 are responsible for the disorder.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00665  Mandibuloacral dysplasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00665  Mandibuloacral dysplasia
Gene
(type A) LMNA [HSA:4000] [KO:K12641]
(type B) ZMPSTE24 [HSA:10269] [KO:K06013]
Other DBs
ICD-11: LD27.60
ICD-10: Q87.5
MeSH: C535705 C535706
OMIM: 248370 608612
Reference
  Authors
Worman HJ, Ostlund C, Wang Y
  Title
Diseases of the nuclear envelope.
  Journal
Cold Spring Harb Perspect Biol 2:a000760 (2010)
DOI:10.1101/cshperspect.a000760
Reference
  Authors
Worman HJ, Bonne G
  Title
"Laminopathies": a wide spectrum of human diseases.
  Journal
Exp Cell Res 313:2121-33 (2007)
DOI:10.1016/j.yexcr.2007.03.028
Reference
  Authors
Bonne G, Levy N
  Title
LMNA mutations in atypical Werner's syndrome.
  Journal
Lancet 362:1585-6; author reply 1586 (2003)
DOI:10.1016/S0140-6736(03)14761-7
Reference
  Authors
Jacob KN, Garg A
  Title
Laminopathies: multisystem dystrophy syndromes.
  Journal
Mol Genet Metab 87:289-302 (2006)
DOI:10.1016/j.ymgme.2005.10.018
Reference
  Authors
Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadinanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Levy N, Bonne G
  Title
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.
  Journal
Eur J Hum Genet 19:647-54 (2011)
DOI:10.1038/ejhg.2010.256
Reference
  Authors
Ahmad Z, Zackai E, Medne L, Garg A
  Title
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.
  Journal
Am J Med Genet A 152A:2703-10 (2010)
DOI:10.1002/ajmg.a.33664
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