3-M syndrome
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| 3-M syndrome Classification and external resources |
|
| ICD-10 | Q87.1 |
|---|---|
| ICD-9 | xxx |
| OMIM | 273750 |
| DiseasesDB | 33510 |
3-M syndrome (alternative names: dolichospondylic dysplasia, gloomy face syndrome and le Merrer syndrome), is a rare hereditary growth retardation syndrome.[1][2] The name 3-M originates from the initials of the three authors Miller, McKusick and Malvaux who first reported the syndrome in literature.[1] Major symptoms of 3M syndrome are dwarfism, facial dysmorphia and skeletal abnormalities.[3][1] No signs of mental retardation are reported.[1] 3-M syndrome is thought to be inherited as an autosomal recessive genetic trait.[4][5][1]
[edit] Molecular Genetics
3-M syndrome was linked to mutations of the Cullin7 gene that encodes a component of the Cullin7 E3 ubiquitin ligase[6].
[edit] References
- ^ a b c d e ORPHANET - About rare diseases - About orphan drugs
- ^ Rare Diseases and Related Terms
- ^ Van Goethem H, Malvaux P (1987). "The 3-M syndrome. A heritable low birthweight dwarfism". Helvetica paediatrica acta 42 (2-3): 159-65. PMID 3692880.
- ^ Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C (1975). "The 3-M syndrome: a heritable low birthweight dwarfism". Birth Defects Orig. Artic. Ser. 11 (5): 39-47. PMID 1218233.
- ^ Molecular Medicine Unit Research
- ^ Huber, C.; Dias-Santagata, D.; Glaser, A.; O'Sullivan, J.; Brauner, R.; Wu, K.; Xu, X.; Pearce, K.; Wang, R.; Giovannucci Uzielli, M. L.; Dagoneau, N.; Chemaitilly, W.; and 16 others: Identification of mutations in CUL7 in 3-M syndrome. Nature Genet. 37: 1119-1124, 2005.
[edit] External links
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