Familial lipodystrophy

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Classification according to ICD-10
E88.1 Lipodystrophy, not elsewhere classified
ICD-10 online (WHO version 2019)

Familial lipodystrophy describes a group of congenital syndromes with the main characteristic of a change in the subcutaneous fat tissue ( lipodystrophy ).

classification

There is currently a classification based on the type of inheritance and the underlying genetic defect.

  • FPLD1 : Familial partial lipodystrophy type 1 / Köbberling type , autosomal dominant inheritance , restricted to the lower half of the body
  • FPLD2 : familial partial lipodystrophy type 2 / type Dunningan , autosomal dominant, the strain is also affected, mutations in the LMNA gene
  • FPLD3 : familial partial lipodystrophy type 3, associated with PPARG gene mutation, autosomal dominant, mutations in the PPARG gene at 3p25.2
  • FPLD4 : familial partial lipodystrophy, associated with PLIN1 gene mutations, autosomal dominant, mutations in the PLIN1 gene at 15q26.1
  • FPLD5 : familial partial lipodystrophy, associated with CIDEC mutations, autosomal recessive , mutations in the CIDEC gene at 3p25.3
  • FPLD6 : familial partial lipodystrophy, associated with LIPE mutations, autosomal recessive, mutations in the LIPE gene at 19q13.2

distribution

The frequency of all forms is given as less than 1 in 1,000,000. Type 1 and Type 2 are the best known.

See also

Individual evidence

  1. ^ Rare Diseases
  2. ↑ Lipodystrophy, familial partial, Köbberling type. In: Orphanet (Rare Disease Database).
  3. ^ Lipodystrophy, familial partial, 2nd  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Lipodystrophy, familial partial, Dunningan type. In: Orphanet (Rare Disease Database).
  5. ^ Lipodystrophy, familial partial, 3rd  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Lipodystrophy, familial partial, associated with PPARG gene mutation. In: Orphanet (Rare Disease Database).
  7. ^ Lipodystrophy, familial partial, 4th  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ Lipodystrophy, familial partial, with associated PLIN1 gene mutations Familial lipodystrophy. In: Orphanet (Rare Disease Database).
  9. ^ Lipodystrophy, familial partial, 5th  In: Online Mendelian Inheritance in Man . (English)
  10. ^ Lipodystrophy, familial partial, 6th  In: Online Mendelian Inheritance in Man . (English)
  11. ↑ Familial partial lipodystrophy associated with LIPE mutations. In: Orphanet (Rare Disease Database).

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