Hemihyperplasia-multiple Lipomatosis Syndrome

Description

Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

Clinical Features

Top most frequent phenotypes and symptoms related to Hemihyperplasia-multiple Lipomatosis Syndrome

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Neoplasm
  • Abnormality of the skeletal system
  • Syndactyly
  • Polydactyly
  • Microtia
  • Joint hypermobility

And another 23 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

Hemihyperplasia-multiple Lipomatosis Syndrome Is also known as hhml.

Researches and researchers

Doctors, researchs, and experts related to Hemihyperplasia-multiple Lipomatosis Syndrome extracted from public data.

Hemihyperplasia-multiple Lipomatosis Syndrome Experts map



Current Researchs and researchers

  • DIJON — Dr Jean-Baptiste RIVIERE

    Investigator of research project

    • Institution/s:
      — CHU de Dijon - Plateau technique de Biologie
      — Universit√© de Bourgogne
    • Research area/topic::

      MOSAIC: A genomic approach to identify postzygotic mutations in mosaic developmental diseases involving the skin



Mendelian

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Hemihyperplasia-multiple Lipomatosis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Macrocephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

MED12, NSD1, PHF6, UPF3B, CUL4B, EZH2, GLI3, NFIX, PIK3CA, PTCH1, PTEN
Specificity
10 %
Genes
100 %
PIK3CA sequence analysis (Somatic).

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

PIK3CA
Specificity
100 %
Genes
100 %
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
PIK3CA Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

PIK3CA
Specificity
100 %
Genes
100 %
Hereditary Thyroid Cancer Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDHB, SDHD, TP53, WRN, DICER1, SRGAP1, AKT1, APC, PIK3CA, PRKAR1A, PTEN, RET
Specificity
9 %
Genes
100 %
PIK3CA.

By Institute for Human Genetics University Clinic Freiburg (Germany).

PIK3CA
Specificity
100 %
Genes
100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %

We have 94 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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