Cardiomyopathy, dilated, 1a

Preferred Label : Cardiomyopathy, dilated, 1a;

Symbol : CMD1A;

CISMeF acronym : CDCD1; CMD1A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDCD1; Cardiomyopathy, congestive; Cardiomyopathy, dilated, with conduction defect 1; Cardiomyopathy, idiopathic dilated; Cardiomyopathy, familial idiopathic;

Description : Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life (summary by Levitas et al., 2010). - Genetic Heterogeneity of Dilated Cardiomyopathy Mutations in many other genes have been found to cause different forms of dilated cardiomyopathy. These include CMD1C (601493), with or without left ventricular noncompaction, caused by mutation in the LDB3 gene (605906) on 10q22-q23; CMD1D (601494), caused by mutation in the TNNT2 gene (191045) on 1q32; CMD1E (601154), caused by mutation in the SCN5A gene (600163) on 3p; CMD1G (604145), caused by mutation in the TTN gene (188840) on 2q31; CMD1I (604765), caused by mutation in the DES gene (125660) on 2q35; CMD1J (605362), caused by mutation in the EYA4 gene (603550) on 6q23-q24; CMD1L (606685), caused by mutation in the SGCD gene (601411) on 5q33; CMD1M (607482), caused by mutation in the CSRP3 gene (600824) on 11p15.1; CMD1N (607487), caused by mutation in the TCAP gene (604488) on 17q12; CMD1O (608569), caused by mutation in the ABCC9 gene (601439) on 12p12.1; CMD1P (609909), caused by mutation in the PLN gene (172405) on 6q22.1; CMD1R (613424), caused by mutation in the ACTC gene (102540) on 15q14; CMD1S (613426), caused by mutation in the MYH7 gene (160760) on 14q12; CMD1T (613740), caused by mutation in the TMPO gene (188380) on chromosome 12q22; CMD1U (613694), caused by mutation in the PSEN1 gene (104311) on 14q24.3; CMD1V (613697), caused by mutation in the PSEN2 gene (600759) on 1q31-q42; CMD1W (611407), caused by mutation in the gene encoding metavinculin (VCL; 193065) on 10q22-q23; CMD1X (611615), caused by mutation in the gene encoding fukutin (FKTN; 607440) on 9q31; CMD1Y (611878), caused by mutation in the TPM1 gene (191010) on 15q22.1; CMD1Z (611879), caused by mutation in the TNNC1 gene (191040) on 3p21.3-p14.3; CMD1AA (612158), caused by mutation in the ACTN2 gene (102573) on 1q42-q43; CMD1BB (612877), caused by mutation in the DSG2 gene (125671) on 18q12.1-q12.2; CMD1CC (613122), caused by mutation in the NEXN gene (613121) on 1p31.1; CMD1DD (613172), caused by mutation in the RBM20 gene (613171) on chromosome 10q25.2; CMD1EE (613252), caused by mutation in the MYH6 gene (160710) on chromosome 14q12; CMD1FF (613286), caused by mutation in the TNNI3 gene (191044) on chromosome 19q13.4; CMD1GG (613642), caused by mutation in the SDHA gene (600857) on chromosome 5p15; and CMD1HH (613881), caused by mutation in the BAG3 gene (603883) on chromosome 10q25.2-q26.2; CMD1II (615184), caused by mutation in the CRYAB gene (123590) on chromosome 6q21; CMD1JJ (615235), caused by mutation in the LAMA4 gene (600133) on chromosome 6q21; CMD1KK (615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21; CMD1LL (615373), caused by mutation in the PRDM16 gene (605557) on chromosome 1p36; and CMD1MM (see 615396), caused by mutation in the MYBPC3 gene (600958) on chromosome 11p11. Several additional loci for familial dilated cardiomyopathy have been mapped: CMD1B (600884) on 9q13; CMD1H (604288) on 2q14-q22; CMD1K (605582) on 6q12-q16; and CMD1Q (609915) on 7q22.3-q31.1. The symbol CMD1F was formerly used for a disorder later found to be the same as desmin-related myopathy (601419). Autosomal recessive forms of dilated cardiomyopathy have been reported, including CMD2A (611880), caused by mutation in the TNNI3 gene, and CMD2B (614672), caused by mutation in the GATAD1 gene (614518).;

Inheritance : Autosomal dominant; ? a recessive form also;

Prefixed ID : #115200;

Details

Origin ID

115200;

UMLS CUI

C1449563;

Automatic exact mappings (from CISMeF team)
- Congenital muscular dystrophy type 1A (disorder) [SNOMED CT concept]
- Congestive cardiomyopathy [MedDRA Preferred Term]
- Dilated cardiomyopathy [ICD-10 Sub-category]
- Dilated cardiomyopathy [MedDRA LLT]
- Familial cardiomyopathy [ICD-11 More detail]
- LMNA wt Allele [NCIt concept]
- Laminin subunit alpha 2-related congenital muscular dystrophy [ORDO Disease]
- Severe dilated cardiomyopathy due to lamin A/C mutation [ORDO Disease]
- cardiomyopathy, dilated [MeSH Descriptor]
- cardiomyopathy, dilated [MeSH concept]
- congenital merosin-deficient muscular dystrophy 1A [DO Concept]
- congestive cardiomyopathy [SNOMED Notion]
- dilated cardiomyopathy [DO Concept]
- idiopathic dilation cardiomyopathy [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Dilated Cardiomyopathy-1A [NCIt concept]
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation [ORDO Disease]
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation [ICD-11 More detail]
- Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation (disorder) [SNOMED CT concept]
- Idiopathic dilation cardiomyopathy [MeSH concept]
- Primary idiopathic dilated cardiomyopathy (disorder) [SNOMED CT concept]
- cardiomyopathy, familial idiopathic [MeSH concept]
- dilated cardiomyopathy 1A [DO Concept]
- primary idiopathic dilated cardiomyopathy [SNOMED Notion]
- primary idiopathic dilated cardiomyopathy [Disease (Nov.)]
DO Cross reference
- dilated cardiomyopathy 1A [DO Concept]
Genes related to phenotype
- Lamin a/C [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrial flutter [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Dilated cardiomyopathy [HPO term]
- First degree atrioventricular block [HPO term]
- Heart block [HPO term]
- Middle age onset [HPO term]
- Pericardial effusion [HPO term]
- Second degree atrioventricular block [HPO term]
- Sinus bradycardia [HPO term]
- Sudden cardiac death [HPO term]
- Third degree atrioventricular block [HPO term]
- Ventricular arrhythmia [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Familial dilated cardiomyopathy with conduction defect due to LMNA mutation [ORDO Disease]
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- Severe dilated cardiomyopathy due to lamin A/C mutation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dilated Cardiomyopathy-1A [NCIt concept]
- Primary idiopathic dilated cardiomyopathy (disorder) [SNOMED CT concept]
- cardiomyopathy, familial idiopathic [MeSH concept]
- dilated cardiomyopathy 1A [DO Concept]
- primary idiopathic dilated cardiomyopathy [SNOMED Notion]
- primary idiopathic dilated cardiomyopathy [Disease (Nov.)]
Validated automatic mappings to NTBT
- Congestive cardiomyopathy (disorder) [SNOMED CT concept]
- Dilated Cardiomyopathy [NCIt concept]
- Dilated cardiomyopathy [ICD-11 Subcategory]
- Dilated cardiomyopathy [HPO term]
- dilated cardiomyopathy [Disease (Nov.)]

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