Lipe-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-6 (FPLD6) is characterized by abnormal subcutaneous fat distribution, with variable excess accumulation of fat in the face, neck, shoulders, axillae, back, abdomen, and pubic region, and reduction in subcutaneous fat of the lower extremities. Progressive adult-onset myopathy is seen in some patients, and there is variable association with diabetes, hypertriglyceridemia, low high-density lipoprotein (HDL) cholesterol, and hepatic steatosis (Zolotov et al., 2017).

Genes related to Lipe-related Familial Partial Lipodystrophy

LIPE
LIPE-AS1

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Clinical Features

Top most frequent phenotypes and symptoms related to Lipe-related Familial Partial Lipodystrophy

Muscle weakness
Hepatomegaly
Skeletal muscle atrophy
Myopathy
Elevated serum creatine phosphokinase
Diabetes mellitus
Proximal muscle weakness
Muscular dystrophy
Hepatic steatosis
Hypertriglyceridemia

And another 22 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

Lipe-related Familial Partial Lipodystrophy Is also known as fpld6, lipe-related fpld, lipodystrophy, familial partial, associated with lipe 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.

Lipe-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 50 %
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 50 %
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 50 %
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 50 %
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 50 %
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 50 %
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 50 %
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 50 %

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Sources and references

You can check the following sources for additional information.

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