Progeria classification: Difference between revisions
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**[[Restrictive dermopathy]]<ref name="pmid26290387">{{cite journal| author=McKenna T, Sola Carvajal A, Eriksson M| title=Skin Disease in Laminopathy-Associated Premature Aging. | journal=J Invest Dermatol | year= 2015 | volume= 135 | issue= 11 | pages= 2577-2583 | pmid=26290387 | doi=10.1038/jid.2015.295 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26290387 }}</ref> | **[[Restrictive dermopathy]]<ref name="pmid26290387">{{cite journal| author=McKenna T, Sola Carvajal A, Eriksson M| title=Skin Disease in Laminopathy-Associated Premature Aging. | journal=J Invest Dermatol | year= 2015 | volume= 135 | issue= 11 | pages= 2577-2583 | pmid=26290387 | doi=10.1038/jid.2015.295 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26290387 }}</ref> | ||
**[[Familial partial lipodystrophy, Köbberling type|Familial partial lipodystrophy]] type 2 | **[[Familial partial lipodystrophy, Köbberling type|Familial partial lipodystrophy]] type 2 | ||
** Dunnigan-type familial partial lipodystrophy (FPLD) | ** Dunnigan-type familial partial lipodystrophy (FPLD), ([[Autosomal dominant]]) | ||
**[[Limb-girdle muscular dystrophy]]<ref name="pmid21496626">{{cite journal| author=Gallardo E, Saenz A, Illa I| title=Limb-girdle muscular dystrophy 2A. | journal=Handb Clin Neurol | year= 2011 | volume= 101 | issue= | pages= 97-110 | pmid=21496626 | doi=10.1016/B978-0-08-045031-5.00006-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21496626 }}</ref> | **[[Limb-girdle muscular dystrophy]]<ref name="pmid21496626">{{cite journal| author=Gallardo E, Saenz A, Illa I| title=Limb-girdle muscular dystrophy 2A. | journal=Handb Clin Neurol | year= 2011 | volume= 101 | issue= | pages= 97-110 | pmid=21496626 | doi=10.1016/B978-0-08-045031-5.00006-2 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21496626 }}</ref> | ||
** Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy | ** Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy | ||
Revision as of 20:09, 5 July 2019
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Progeria classification On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Progeria may be classified according to genotype into two groups: Classic progeria and atypical progeria.
Classification
- Progeria may be classified according to genotype into two groups:
| Group | Classification of Hutchinson-Gilford Progeria Syndrome | Cause |
| Group 1 | Classic Hutchinson-Gilford progeria syndrome | Due to nucleotide substitution in the lamin A/C gene LMNA(c.1824C>T [p.Gly608Gly]) |
| Group 2 | Atypical Hutchinson-Gilford progeria syndrome | Due to variety of pathogenic variants in intron 11 of the LMNA gene |
- Other Non-progeroid laminopathies associated with LMNA gene mutations which produces atypical protein A lamin:[1][2][3][4]
- Emery-Dreifuss muscular dystrophy(Autosomal dominant)
- Emery-Dreifuss muscular dystrophy(Autosomal recessive)
- Familial dilated cardiomyopathy(Autosomal dominant)
- Dilated cardiomyopathy and hypergonadotropic hypogonadism
- Dilated cardiomyopathy with apical left ventricular aneurysm(Autosomal dominant)
- Mandibuloacral dysplasia(Autosomal recessive)
- Restrictive dermopathy[5]
- Familial partial lipodystrophy type 2
- Dunnigan-type familial partial lipodystrophy (FPLD), (Autosomal dominant)
- Limb-girdle muscular dystrophy[6]
- Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301609.
- ↑ Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, De Sandre-Giovannoli A; et al. (2008). "HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches". Mech Ageing Dev. 129 (7–8): 449–59. doi:10.1016/j.mad.2008.04.003. PMID 18513784.
- ↑ Ikeda Y, Kumagai H, Motozawa Y, Suzuki J, Akazawa H, Komuro I (2016). "Understanding Vascular Diseases: Lessons From Premature Aging Syndromes". Can J Cardiol. 32 (5): 650–8. doi:10.1016/j.cjca.2015.12.003. PMID 26948039.
- ↑ Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y; et al. (2003). "LMNA mutations in atypical Werner's syndrome". Lancet. 362 (9382): 440–5. doi:10.1016/S0140-6736(03)14069-X. PMID 12927431.
- ↑ McKenna T, Sola Carvajal A, Eriksson M (2015). "Skin Disease in Laminopathy-Associated Premature Aging". J Invest Dermatol. 135 (11): 2577–2583. doi:10.1038/jid.2015.295. PMID 26290387.
- ↑ Gallardo E, Saenz A, Illa I (2011). "Limb-girdle muscular dystrophy 2A". Handb Clin Neurol. 101: 97–110. doi:10.1016/B978-0-08-045031-5.00006-2. PMID 21496626.