Fibrodysplasia ossificans progressiva

Preferred Label : Fibrodysplasia ossificans progressiva;

Symbol : FOP;

CISMeF acronym : FOP;

Type : Phenotype, molecular basis known;

Description : Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner, with most patients being confined to a wheelchair by the third decade of life and requiring lifelong care (summary by Petrie et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the activin A receptor, type I gene (ACVR1, 102576.0001);

Prefixed ID : #135100;

Details

Origin ID

135100;

UMLS CUI

C0016037;

Automatic exact mappings (from CISMeF team)
- ACVR1 wt Allele [NCIt concept]
- CEP43 wt Allele [NCIt concept]
- CHTOP wt Allele [NCIt concept]
- Centrosomal Protein 43 [NCIt concept]
- centrosomal protein 43 [HGNC gene]
- chromatin target of PRMT1 [HGNC gene]
- foramen ovale, patent [MeSH Descriptor]
- myositis ossificans [MeSH Descriptor]
Currated CISMeF NLP mapping
- Fibrodysplasia Ossificans Progressiva [NCIt concept]
- Fibrodysplasia ossificans progressiva [ICD-11 Subcategory]
- Fibrodysplasia ossificans progressiva [MedDRA Preferred Term]
- Fibrodysplasia ossificans progressiva [ORDO Disease]
- Myositis ossificans progressiva [PASCAL descriptor]
- Myositis ossificans progressiva [ICD-10 Sub-category]
- Myositis ossificans progressiva [ICD-10 Sub-category (who)]
- Progressive myositis ossificans [MedDRA LLT]
- Progressive myositis ossificans (disorder) [SNOMED CT concept]
- fibrodysplasia ossificans progressiva [Disease (Nov.)]
- fibrodysplasia ossificans progressiva [DO Concept]
- fibrodysplasia ossificans progressiva [MeSH concept]
- progressive myositis ossificans [SNOMED Notion]
DO Cross reference
- fibrodysplasia ossificans progressiva [DO Concept]
Genes related to phenotype
- Activin a receptor, type I [OMIM gene]
HPO term(s)
- Abnormality of the first metatarsal bone [HPO term]
- Adolescent onset [HPO term]
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Basal ganglia calcification [HPO term]
- Broad femoral neck [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Ectopic ossification in ligament tissue [HPO term]
- Ectopic ossification in muscle tissue [HPO term]
- Ectopic ossification in tendon tissue [HPO term]
- Hallux valgus [HPO term]
- Hamartoma [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Metaphyseal widening [HPO term]
- Progressive cervical vertebral spine fusion [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short 1st metacarpal [HPO term]
- Short hallux [HPO term]
- Small cervical vertebral bodies [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Fibrodysplasia ossificans progressiva [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fibrodysplasia Ossificans Progressiva [NCIt concept]
- Fibrodysplasia ossificans progressiva [MedDRA Preferred Term]
- Fibrodysplasia ossificans progressiva [ORDO Disease]
- Fibrodysplasia ossificans progressiva [ICD-11 Subcategory]
- Myositis ossificans progressiva [ICD-10 Sub-category (who)]
- Myositis ossificans progressiva [ICD-10 Sub-category]
- Myositis ossificans progressiva [PASCAL descriptor]
- Myositis ossificans progressiva, unspecified site [ICD-10 Subdivision]
- Progressive myositis ossificans [MedDRA LLT]
- Progressive myositis ossificans [ICD-9 code]
- Progressive myositis ossificans (disorder) [SNOMED CT concept]
- fibrodysplasia ossificans progressiva [MeSH concept]
- fibrodysplasia ossificans progressiva [DO Concept]
- fibrodysplasia ossificans progressiva [Disease (Nov.)]
- progressive myositis ossificans [SNOMED Notion]

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