Plin1-related Familial Partial Lipodystrophy
Description
Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011).
Clinical Features
Top most frequent phenotypes and symptoms related to Plin1-related Familial Partial Lipodystrophy
- Hypertension
- Diabetes mellitus
- Infertility
- Hepatic steatosis
- Epidermal acanthosis
- Hypertriglyceridemia
- Hepatic fibrosis
- Acanthosis nigricans
- Polycystic ovaries
- Hyperinsulinemia
And another 11 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Plin1-related Familial Partial Lipodystrophy Is also known as fpld4, plin1-related fpld, lipodystrophy, familial partial, associated with plin1 mutations.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Plin1-related Familial Partial Lipodystrophy Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 Partial Lipodystrophy Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
ZMPSTE24, CAV1, TBC1D4, CIDEC, ADRA2A, AKT2, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8
Specificity
8 %
Genes
100 % |
|
Comprehensive Lipodystrophy Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 % |
|
Comprehensive Lipodystrophy Panel.
By Genetic Services Laboratory University of Chicago (United States).
ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 % |
|
Partial Lipodystrophy Panel.
By Genetic Services Laboratory University of Chicago (United States).
ZMPSTE24, CAV1, TBC1D4, CIDEC, ADRA2A, AKT2, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8
Specificity
8 %
Genes
100 % |
 Lipodystrophies (NGS panel for 17 genes).
By CGC Genetics (Portugal).
ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, AGPAT2, FBN1, AKT2, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 % |
|
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).
By CGC Genetics (Portugal).
BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
|
Lipodystrophies (NGS panel for 17 genes).
By CGC Genetics (Portugal).
ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, AGPAT2, FBN1, AKT2, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 % |
|
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).
By CGC Genetics (Portugal).
BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
You can get up to 10 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STARGARDT DISEASE NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM SICKLE CELL ANEMIA MEND SYNDROME; MEND