Hutchinson-gilford Progeria Syndrome

Description

Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

Clinical Features

Top most frequent phenotypes and symptoms related to Hutchinson-gilford Progeria Syndrome

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment
  • Abnormal facial shape

And another 147 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available HUTCHINSON-GILFORD PROGERIA SYNDROME have a estimated prevalence of 0.005 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Hutchinson-gilford Progeria Syndrome Is also known as progeria, hgps.

Researches and researchers

Doctors, researchs, and experts related to Hutchinson-gilford Progeria Syndrome extracted from public data.

Hutchinson-gilford Progeria Syndrome Experts map



Current Researchs and researchers

  • WIEN — Dr Selma OSMANAGIC-MYERS

    Investigator of research project

    • Institution/s:
      — Universität für Bodenkultur
    • Research area/topic::

      Nucleocytoskeleton-mediated endothelial aging in progeria


  • WIEN — Pr Roland FOISNER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Max F. Perutz Laboratories (MFPL), Vienna Biocenter
    • Research area/topic::

      Molecular mechanisms of cardiovascular disease in progeria


  • LYON — Dr Pascal SOMMER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — CNRS UMR 5305, Institut de Biologie et Chimie des Protéines
    • Research area/topic::

      ELAST-AGE: targeting the elastic tissues ageing to improve the quality of ageing (FINISHED)


  • MARSEILLE — Pr Nicolas LEVY

    Clinical geneticist - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network - Director of department

    • Institution/s:
      — Faculté de Médecine de la Timone
      — Département de génétique médicale, CHU de Marseille - Hôpital de la Timone
      — Département de génétique médicale, CHU de Marseille - Hôpital de la Timone
      — Département de Génétique Médicale, CHU de Marseille - Hôpital de la Timone
    • Research area/topic::

      EUROPROGERIA: european network for the scientific investigation of Hutchinson-Gilford-Progeria and related disorders


  • MADRID — Dr José María GONZÁLEZ-GRANADO

    Investigator of research project

    • Institution/s:
      — CNIC - Centro Nacional de Investigaciones Cardiovasculares
    • Research area/topic::

      New mechanisms for regulating the immune response for lamin A/C and progerine: implications in Hutchinson-Gilford premature ageing síndrome


  • MADRID — Dr Ana María GONZÁLEZ GARCÍA

    Investigator of research project

    • Institution/s:
      — Centro Nacional de Biotecnología (CNB-CSIC)
    • Research area/topic::

      Molecular therapy for Laminopathies


  • GÖTEBORG — Pr Martin BERGÖ

    Investigator of research project

    • Institution/s:
      — Institute of Medicine, Göteborg University
    • Research area/topic::

      Targeting the CAAX protein processing enzymes in the treatment of progeria


  • HUDDINGE — Dr Maria ERIKSSON

    Investigator of research project

    • Institution/s:
      — Karolinska Institutet - Huddinge
    • Research area/topic::

      Genetic mechanisms in progeria


  • CAMBRIDGE — Pr Stephen JACKSON

    Investigator of research project

    • Institution/s:
      — Henry Wellcome Building of Cancer and Developmental Biology, University of Cambridge
    • Research area/topic::

      Chemical reversion of nuclear shape and other defects of Hutchinson Gilford Progeria Syndrome and Lamin A/C depleted cells


  • OXFORD — Ms Elisabeth CARPENTER

    Investigator of research project

    • Institution/s:
      — University of Oxford
    • Research area/topic::

      Structure and function of ZMPSTE24, an integral membrane protease mutated in progeria



Mendelian

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Hutchinson-gilford Progeria Syndrome 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
50 %
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
50 %
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
50 %
CMT Advanced Evaluation - Recessive.

By Athena Diagnostics Inc (United States).

PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1
Specificity
12 %
Genes
50 %
LMNA (CMT2B1) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LMNA
Specificity
100 %
Genes
50 %
Lamin A/C (LMNA) DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

LMNA
Specificity
100 %
Genes
50 %
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
50 %
Emery-Dreifuss Muscular Dystrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA
Specificity
17 %
Genes
50 %

We have 459 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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