Facioscapulohumeral Muscular Dystrophy 1

Preferred Label : Facioscapulohumeral Muscular Dystrophy 1;

NCIt synonyms : FSHD1;

NCIt definition : An autosomal dominant form of facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat.;

NCIt note : Facioscapulohumeral muscular dystrophy 1 (FSHD1) is associated with contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. The D4Z4 repeat region normally contains between 11 and more than 100 repeated segments, which includes one functional protein-encoding gene DUX4, encoding ouble homeobox protein 4, and multiple copies that are not transcribed, which are designated DUX4-like or DUX4l genes. The D4Z4 repeat array of FSHD1 patients contains less than 11 repeats. (OMIM and MedlinePlus);

Details

Origin ID

C172704;

UMLS CUI

C5399970;

Currated CISMeF NLP mapping
- Facioscapulohumeral muscular dystrophy 1 [OMIM Phenotype]
- facioscapulohumeral muscular dystrophy 1 [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Facioscapulohumeral muscular dystrophy 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Peripheral Nerve [NCIt concept]
related_to_genetic_biomarker
- DUX4 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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