Familial Partial Lipodystrophy, Dunnigan Type

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.

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



Mendelian

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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
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
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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