Myotonic dystrophy 1

Preferred Label : Myotonic dystrophy 1;

Symbol : DM1;

CISMeF acronym : DM; DM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dystrophia myotonica; Dystrophia myotonica 1; Steinert disease; DM;

Description : Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). - Genetic Heterogeneity of Myotonic Dystrophy See also myotonic dystrophy-2 (DM2; 602668), which is caused by mutation in the ZNF9 gene (116955) on chromosome 3q.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion (CTG)n in the dystrophia myotonica-protein kinase gene (DMPK, 605377.0001);

Prefixed ID : #160900;

Details

Origin ID

160900;

UMLS CUI

C3250443;

Automatic exact mappings (from CISMeF team)
- DERMATOMYOSITIS [WHO-ART Included Term]
- DM1 protein kinase [ORDO Gene]
- DM1 protein kinase [HGNC gene]
- Demographics Domain [NCIt concept]
- Dermatomyositis [ORDO Disease]
- Dermatomyositis [MedDRA Preferred Term]
- Diabetes Mellitus [NCIt concept]
- MACULAR DEGENERATION [WHO-ART Included Term]
- Myotonic disorders [ICD-10 Sub-category (who)]
- Myotonic dystrophy type 1 [ICD-11 More detail]
- dermatomyositis [MeSH Descriptor]
- dermatomyositis [SNOMED Notion]
- dermatomyositis [MeSH concept]
- diabetes [MedlinePlus Topic]
- equipment and supplies [CISMeF Metaterm]
- immunoglobulin heavy diversity 1-7 [HGNC gene]
- symbol withdrawn DM1 [HGNC gene]
CISMeF manual mappings
- myotonic dystrophy type 1 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Dystrophia Myotonica 1 [NCIt concept]
- 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 [DO Concept]
- steinert myotonic dystrophy syndrome [SNOMED Notion]
DO Cross reference
- myotonic dystrophy type 1 [DO Concept]
False automatic mappings
- Decimeter [NCIt concept]
- Decimeter (qualifier value) [SNOMED CT concept]
- Dominica [NCIt concept]
- Double Minutes [NCIt concept]
Genes related to phenotype
- Dystrophia myotonica protein kinase [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrial flutter [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Cerebral atrophy [HPO term]
- Cholelithiasis [HPO term]
- Decreased fetal movement [HPO term]
- Dysphagia [HPO term]
- Excessive daytime sleepiness [HPO term]
- Excessive daytime somnolence [HPO term]
- Facial diplegia [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- First degree atrioventricular block [HPO term]
- Frontal balding [HPO term]
- Generalized hypotonia [HPO term]
- Heart block [HPO term]
- Hypogonadism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Muscle weakness [HPO term]
- Myotonia [HPO term]
- Obsessive-compulsive trait [HPO term]
- Polyhydramnios [HPO term]
- Respiratory distress [HPO term]
- Testicular atrophy [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Steinert myotonic dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystrophia Myotonica 1 [NCIt concept]
- Myotonic dystrophy type 1 [MedDRA LLT]
- Steinert myotonic dystrophy syndrome (disorder) [SNOMED CT concept]
- myotonic dystrophy type 1 [Disease (Nov.)]
Validated automatic mappings to BTNT
- Dystrophia myotonica [MedDRA LLT]
Validated automatic mappings to NTBT
- myotonic dystrophy [Disease (Nov.)]

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