Fibrodysplasia Ossificans Progressiva

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

Genes related to Fibrodysplasia Ossificans Progressiva

ACVR1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Fibrodysplasia Ossificans Progressiva

Intellectual disability
Seizures
Global developmental delay
Hearing impairment
Scoliosis
Neoplasm
Failure to thrive
Sensorineural hearing impairment
Pain
Low-set ears

And another 56 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 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA have a estimated prevalence of 0.05 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

Fibrodysplasia Ossificans Progressiva Is also known as stone man syndrome, fop, myositis ossificans progressiva.

Researches and researchers

Doctors, researchs, and experts related to Fibrodysplasia Ossificans Progressiva extracted from public data.

Fibrodysplasia Ossificans Progressiva Experts map

Current Researchs and researchers

PARIS — Dr Genevieve BAUJAT
Clinical expert - Principal investigator of clinical trial - Investigator of research project
- Institution/s:
  — CHU Paris - Hôpital Necker-Enfants Malades
  — CHU Paris - Hôpital Necker-Enfants Malades
  — CHU Paris - Hôpital Necker-Enfants Malades
- Research area/topic::
  A Natural History, Non-Interventional, Two-Part Study in Subjects With Fibrodysplasia Ossificans Progressiva (FOP)-FR

GENOVA — Dr Maja DI ROCCO
Coordinator of expert centre - Investigator of clinical trial - Investigator of research project
- Institution/s:
  — Diparimento di Pediatria, IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- Research area/topic::
  A Natural History, non-Interventional, two-part study in subjects with fibrodysplasia ossificans progressiva (FOP) - IT

GENOVA — Pr Roberto RAVAZZOLO
Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department
- Institution/s:
  — S.C. di Genetica Molecolare e Citogenetica, IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  — U.O. C. Clinica Pediatrica, IRCCS Istituto G. Gaslini - Ospedale Pediatrico
  — U.O.C. Clinica Pediatrica, IRCCS Istituto G. Gaslini - Ospedale Pediatrico
- Research area/topic::
  New treatment strategies for Fibrodysplasia Ossificans Progressiva

LONDON — Dr Richard KEEN
Investigator of clinical trial - Investigator of research project
- Institution/s:
  — University College London Medical School and Royal Free Hospital
  — Royal National Orthopaedic Hospital
- Research area/topic::
  A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)

STANMORE — Dr Richard KEEN
Investigator of clinical trial - Investigator of research project
- Institution/s:
  — University College London Medical School and Royal Free Hospital
  — Royal National Orthopaedic Hospital
- Research area/topic::
  A Natural History Study of Fibrodysplasia Ossificans Progressiva (FOP)

Fibrodysplasia Ossificans Progressiva Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Connective Tissue Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...) View the complete list with 13 more genes Panel complete gene list SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14, ELN, FBLN5, FBN1, FBN2, ABCC6, SMAD3, MYH11, MYLK, NOTCH1, ATP7A, PKD2, PLOD1, PRDM5 Specificity 4 % Genes 100 %
Optic Atrophy and Early Glaucoma Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...) View the complete list with 14 more genes Panel complete gene list SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1, FOXE3, LMX1B, LTBP2, MAF, MYOC, NDUFS1, NR2F1, OPA1, OPA3, PAX6, AUH, PITX2, PITX3, POLG Specificity 3 % Genes 100 %
Fibrodysplasia Ossificans Progressiva. By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). ACVR1 Specificity 100 % Genes 100 %
ACVR1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ACVR1 Specificity 100 % Genes 100 %
ACVR1. Detection of the mutation c.617G>A (p.Arg206His). By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ACVR1 Specificity 100 % Genes 100 %
Fibrodysplasia ossificans progressiva (sequence analysis of ACVR1 gene). By CGC Genetics (Portugal). ACVR1 Specificity 100 % Genes 100 %
Test for Fibrodysplasia Ossificans Progressiva. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany). ACVR1 Specificity 100 % Genes 100 %
Fibrodysplasia Ossificans progressiva (FOP) via ACVR1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ACVR1 Specificity 100 % Genes 100 %