Familial lipodystrophy
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
- Lipodystrophy type Berardinelli , a syndrome with further abnormalities
Individual evidence
- ^ Rare Diseases
- ↑ Lipodystrophy, familial partial, Köbberling type. In: Orphanet (Rare Disease Database).
- ^ Lipodystrophy, familial partial, 2nd In: Online Mendelian Inheritance in Man . (English)
- ↑ Lipodystrophy, familial partial, Dunningan type. In: Orphanet (Rare Disease Database).
- ^ Lipodystrophy, familial partial, 3rd In: Online Mendelian Inheritance in Man . (English)
- ↑ Lipodystrophy, familial partial, associated with PPARG gene mutation. In: Orphanet (Rare Disease Database).
- ^ Lipodystrophy, familial partial, 4th In: Online Mendelian Inheritance in Man . (English)
- ↑ Lipodystrophy, familial partial, with associated PLIN1 gene mutations Familial lipodystrophy. In: Orphanet (Rare Disease Database).
- ^ Lipodystrophy, familial partial, 5th In: Online Mendelian Inheritance in Man . (English)
- ^ Lipodystrophy, familial partial, 6th In: Online Mendelian Inheritance in Man . (English)
- ↑ Familial partial lipodystrophy associated with LIPE mutations. In: Orphanet (Rare Disease Database).