Progeria classification: Difference between revisions
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==Classification== | ==Classification== | ||
Progeria may be classified according to genotype into two groups: | * Progeria may be classified according to genotype into two groups: | ||
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|Due to variety of pathogenic variants in intron 11 of the ''LMNA'' gene | |Due to variety of pathogenic variants in intron 11 of the ''LMNA'' gene | ||
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* Other '''Non-progeroid laminopathies''' associated with ''LMNA'' gene mutations which produces atypical protein A lamin: | |||
** Emery-Dreifuss muscular dystrophy | |||
** Emery-Dreifuss muscular dystrophy | |||
** Familial dilated cardiomyopathy | |||
** Dilated cardiomyopathy and hypergonadotropic hypogonadism | |||
** Mandibuloacral dysplasia | |||
** Restrictive dermopathy | |||
** Familial partial lipodystrophy type 2 | |||
** Dunnigan-type familial partial lipodystrophy (FPLD) | |||
** Limb-girdle muscular dystrophy | |||
** Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy | |||
** Autosomal dominant dilated cardiomyopathy with apical left ventricular aneurysm | |||
==References== | ==References== | ||
Revision as of 15:09, 5 July 2019
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Progeria Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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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:
- Emery-Dreifuss muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- Familial dilated cardiomyopathy
- Dilated cardiomyopathy and hypergonadotropic hypogonadism
- Mandibuloacral dysplasia
- Restrictive dermopathy
- Familial partial lipodystrophy type 2
- Dunnigan-type familial partial lipodystrophy (FPLD)
- Limb-girdle muscular dystrophy
- Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy
- Autosomal dominant dilated cardiomyopathy with apical left ventricular aneurysm