Dystrophia Myotonica 1

Preferred Label : Dystrophia Myotonica 1;

NCIt related terms : Steinert Syndrome; Steinert Disease; Steinert Myotonic Dystrophy Syndrome; Myotonic Dystrophy 1;

NCIt definition : A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts.;

Alternative definition : NICHD: An autosomal dominant condition caused by heterozygous trinucleotide repeat expansion(s) (CTG)n in the 3-prime untranslated region of the DMPK gene, encoding myotonin-protein kinase. The clinical features of this heterogenous condition may include myotonia, muscular dystrophy, cataracts, hypergonadotropic hypogonadism, adrenal insufficiency, diabetes, frontal balding, and electrocardiographic changes.;

Details

Origin ID

C84679;

UMLS CUI

C3250443;

Automatic exact mappings (from CISMeF team)
- DM1 protein kinase [ORDO Gene]
- DM1 protein kinase [HGNC gene]
- Myotonic disorders [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Myotonic dystrophy 1 [OMIM Phenotype]
- Steinert disease [MedDRA LLT]
- Steinert myotonic dystrophy [ORDO Disease]
- Steinert myotonic dystrophy syndrome (disorder) [SNOMED CT concept]
- myotonic dystrophy [MeSH Descriptor]
- myotonic dystrophy [MeSH concept]
- myotonic dystrophy type 1 [Disease (Nov.)]
- myotonic dystrophy type 1 [DO Concept]
- steinert myotonic dystrophy syndrome [SNOMED Notion]
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)
- Myotonic dystrophy 1 [OMIM Phenotype]
- Myotonic dystrophy type 1 [MedDRA LLT]
- Steinert myotonic dystrophy syndrome (disorder) [SNOMED CT concept]
- myotonic dystrophy type 1 [Disease (Nov.)]
Validated automatic mappings to NTBT
- myotonic dystrophy [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology 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]
disease_mapped_to_gene
- DMPK Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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