Mandibuloacral dysplasia

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.[2]:576

Mandibuloacral dysplasia
Other namesMAD[1]

Types
Type OMIM Gene Locus
MADA 248370 LMNA[3] 1q21.2
MADB 608612 ZMPSTE24[4] 1p34
gollark: "Do not multiply entities beyond necessity", not "simple things are always right".
gollark: Do you know what that *is*?
gollark: Some definitions of omnipotence exclude logically impossible stuff.
gollark: That's stupid.
gollark: "Conventional thought" includes stuff like the law of the excluded middle, which is important or any statement you make about god is basically meaningless because the opposite is true.

See also

References
  1. "Mandibuloacral dysplasia". Genetic and Rare Diseases. NIH. Retrieved 19 March 2019.
  2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  3. Al-Haggar M, Madej-Pilarczyk A, Kozlowski L, Bujnicki JM, Yahia S, Abdel-Hadi D, Shams A, Ahmad N, Hamed S, Puzianowska-Kuznicka M (2012). "A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome". Eur J Hum Genet. 20 (11): 1134–40. doi:10.1038/ejhg.2012.77. PMC 3476705. PMID 22549407.
  4. Barrowman J, Wiley PA, Hudon-Miller SE, Hrycyna CA, Michaelis S (2012). "Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity". Hum Mol Genet. 21 (18): 4084–93. doi:10.1093/hmg/dds233. PMC 3428156. PMID 22718200.
Classification


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