Progeria classification: Difference between revisions
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* Other '''Non-progeroid laminopathies''' associated with ''LMNA'' gene mutations which produces atypical protein A lamin: | * Other '''Non-progeroid laminopathies''' associated with ''LMNA'' gene mutations which produces atypical protein A lamin:<ref name="pmid20301609">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al.| title=GeneReviews® | journal= | year= 1993 | volume= | issue= | pages= | pmid=20301609 | doi= | pmc= | url= }}</ref> | ||
** Emery-Dreifuss muscular dystrophy | ** Emery-Dreifuss muscular dystrophy(Autosomal dominant) | ||
** Emery-Dreifuss muscular dystrophy | ** Emery-Dreifuss muscular dystrophy(Autosomal recessive) | ||
** Familial dilated cardiomyopathy | ** Familial dilated cardiomyopathy(Autosomal dominant) | ||
** Dilated cardiomyopathy and hypergonadotropic hypogonadism | ** Dilated cardiomyopathy and hypergonadotropic hypogonadism | ||
** Mandibuloacral dysplasia | **Dilated cardiomyopathy with apical left ventricular aneurysm(Autosomal dominant) | ||
** Mandibuloacral dysplasia(Autosomal recessive) | |||
** Restrictive dermopathy | ** Restrictive dermopathy | ||
** Familial partial lipodystrophy type 2 | ** Familial partial lipodystrophy type 2 | ||
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** Limb-girdle muscular dystrophy | ** Limb-girdle muscular dystrophy | ||
** Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy | ** Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy | ||
==References== | ==References== | ||
Revision as of 15:22, 5 July 2019
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Progeria Microchapters |
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Progeria classification On the Web |
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American Roentgen Ray Society Images of Progeria classification |
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Risk calculators and risk factors for Progeria classification |
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:
| 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]
- 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
- Familial partial lipodystrophy type 2
- Dunnigan-type familial partial lipodystrophy (FPLD)
- Limb-girdle muscular dystrophy
- Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy