Plin1-related Familial Partial Lipodystrophy

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Plin1-related Familial Partial Lipodystrophy

PLIN1

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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.

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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 Panel complete gene list BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 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 Panel complete gene list BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1 Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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