Familial Partial Lipodystrophy, Dunnigan Type

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, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

Genes related to Familial Partial Lipodystrophy, Dunnigan Type

LMNA

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Partial Lipodystrophy, Dunnigan Type

Short stature
Micrognathia
Cataract
Hypertension
Hepatomegaly
Skeletal muscle atrophy
Abnormality of the skeletal system
Cardiomyopathy
Myopathy
Congestive heart failure

And another 74 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

Familial Partial Lipodystrophy, Dunnigan Type Is also known as fpl2, lipoatrophic diabetes, lipodystrophy, reverse partial, fpld2, familial partial lipodystrophy type 2, lipodystrophy, familial, of limbs and lower trunk, dunnigan syndrome, lipodystrophy, familial partial, dunnigan type.

Researches and researchers

Doctors, researchs, and experts related to Familial Partial Lipodystrophy, Dunnigan Type extracted from public data.

Familial Partial Lipodystrophy, Dunnigan Type Experts map

Current Researchs and researchers

MÜNSTER — Pr Hartmut SCHMIDT
Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Investigator of clinical trial - Investigator of research project - Coordinator of research network
- Institution/s:
  — Universitätsklinikum Münster
- Research area/topic::
  Gene analysis of LMNA and genotype-phenotype correlation of patients with familial partial lipodystrophy

Familial Partial Lipodystrophy, Dunnigan Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant, Axonal. By Athena Diagnostics Inc (United States). YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 10 % Genes 100 %
CMT Advanced Evaluation - Comprehensive. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...) View the complete list with 3 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 5 % Genes 100 %
CMT Advanced Evaluation - Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 8 % Genes 100 %
CMT Advanced Evaluation - Recessive. By Athena Diagnostics Inc (United States). PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1 Specificity 12 % Genes 100 %
LMNA (CMT2B1) DNA Sequencing Test. By Athena Diagnostics Inc (United States). LMNA Specificity 100 % Genes 100 %
Lamin A/C (LMNA) DNA Sequencing Test. By Athena Diagnostics Inc (United States). LMNA Specificity 100 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...) View the complete list with 1 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 5 % Genes 100 %
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA Specificity 17 % 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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