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.
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
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Investigator of research projectWIEN — Dr Selma OSMANAGIC-MYERS
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Institution/s:
— Universität für Bodenkultur -
Research area/topic::
Nucleocytoskeleton-mediated endothelial aging in progeria
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Institution/s:
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Investigator of research project - Coordinator of research networkWIEN — Pr Roland FOISNER
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Institution/s:
— Max F. Perutz Laboratories (MFPL), Vienna Biocenter -
Research area/topic::
Molecular mechanisms of cardiovascular disease in progeria
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Institution/s:
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Investigator of research project - Coordinator of research networkLYON — Dr Pascal SOMMER
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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)
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Institution/s:
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Clinical geneticist - Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network - Director of departmentMARSEILLE — Pr Nicolas LEVY
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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
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Institution/s:
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Investigator of research projectMADRID — Dr José María GONZÁLEZ-GRANADO
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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
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Institution/s:
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Investigator of research projectMADRID — Dr Ana María GONZÁLEZ GARCÍA
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Institution/s:
— Centro Nacional de Biotecnología (CNB-CSIC) -
Research area/topic::
Molecular therapy for Laminopathies
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Institution/s:
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Investigator of research projectGÖTEBORG — Pr Martin BERGÖ
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Institution/s:
— Institute of Medicine, Göteborg University -
Research area/topic::
Targeting the CAAX protein processing enzymes in the treatment of progeria
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Institution/s:
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Investigator of research projectHUDDINGE — Dr Maria ERIKSSON
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Institution/s:
— Karolinska Institutet - Huddinge -
Research area/topic::
Genetic mechanisms in progeria
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Institution/s:
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Investigator of research projectCAMBRIDGE — Pr Stephen JACKSON
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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
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Institution/s:
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Investigator of research projectOXFORD — Ms Elisabeth CARPENTER
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Institution/s:
— University of Oxford -
Research area/topic::
Structure and function of ZMPSTE24, an integral membrane protease mutated in progeria
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Institution/s:
Hutchinson-gilford Progeria Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Athena Diagnostics Inc (United States).
YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
10 %
Genes
50 % |
![]() 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 % |
![]() By Athena Diagnostics Inc (United States).
YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
8 %
Genes
50 % |
![]() By Athena Diagnostics Inc (United States).
PRX, GDAP1, FIG4, FGD4, SBF2, SH3TC2, LMNA, MTMR2, NDRG1
Specificity
12 %
Genes
50 % |
![]() By Athena Diagnostics Inc (United States).
LMNA
Specificity
100 %
Genes
50 % |
![]() By Athena Diagnostics Inc (United States).
LMNA
Specificity
100 %
Genes
50 % |
![]() 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 % |
![]() By Athena Diagnostics Inc (United States).
SYNE2, SYNE1, TMEM43, EMD, FHL1, LMNA
Specificity
17 %
Genes
50 % |
You can get up to 459 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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