eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal dominant emery-dreifuss muscular dystrophy | ||||
| Disease ID | 1387 |
|---|---|
| Disease | autosomal dominant emery-dreifuss muscular dystrophy |
| Definition | Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene. |
| Synonym | autosomal dominant emery dreifuss muscular dystrophy autosomal dominant emery-dreifuss muscular dystrophy (disorder) benign scapuloperoneal muscular dystrophy with cardiomyopathy benign scapuloperoneal muscular dystrophy with cardiomyopathy (disorder) edmd2 emd2 emery dreifuss muscular dystrophy 2 emery dreifuss muscular dystrophy, autosomal dominant emery-dreifuss muscular dystrophy 2 emery-dreifuss muscular dystrophy 2, autosomal dominant emery-dreifuss muscular dystrophy, autosomal dominant hauptmann thannhauser muscular dystrophy hauptmann-thannhauser muscular dystrophy muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant muscular dystrophy, emery-dreifuss, autosomal dominant scapuloilioperoneal atrophy with cardiopathy |
| Orphanet | |
| OMIM | |
| UMLS | C0410190 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 1387 |
|---|---|
| Disease | autosomal dominant emery-dreifuss muscular dystrophy |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1387 |
|---|---|
| Disease | autosomal dominant emery-dreifuss muscular dystrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0018799 | heart disease |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:34) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912496 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156134910 | C | G,T |
| rs199474724 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156134839 | G | A |
| rs267607594 | 18816602 | 4000 | LMNA | umls:C0410190 | BeFree | A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. | 0.447057489 | 2008 | LMNA | 1 | 156130745 | T | C |
| rs267607613 | 19589617 | 4000 | LMNA | umls:C0410190 | BeFree | Altogether, these data suggest that the LMNA mutation p.R545C impairs both proliferation and differentiation capacities of myoblasts as part of the pathogenesis of AD-EDMD. | 0.447057489 | 2009 | LMNA | 1 | 156137678 | C | T |
| rs267607632 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156134976 | G | A,C |
| rs28928901 | 10739764 | 4000 | LMNA | umls:C0410190 | UNIPROT | Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. | 0.447057489 | 2000 | LMNA | 1 | 156134829 | C | T |
| rs28928901 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156134829 | C | T |
| rs56694480 | 14684700 | 4000 | LMNA | umls:C0410190 | UNIPROT | Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. | 0.447057489 | 2003 | LMNA | 1 | 156115021 | C | G |
| rs56771886 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156135923 | T | - |
| rs57207746 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156134860 | G | A |
| rs57520892 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156137204 | G | A,C |
| rs57629361 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156137207 | C | A,G,T |
| rs57793737 | 10939567 | 4000 | LMNA | umls:C0410190 | UNIPROT | Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. | 0.447057489 | 2000 | LMNA | 1 | 156115106 | T | A,C,G |
| rs58034145 | 15548545 | 4000 | LMNA | umls:C0410190 | BeFree | We chose the LMNA H222P missense mutation identified in a family with autosomal dominant Emery-Dreifuss muscular dystrophy, one of the striated muscle-specific laminopathies, to create a faithful mouse model of this type of laminopathy. | 0.447057489 | 2005 | LMNA | 1 | 156134830 | A | C |
| rs58327533 | 14684700 | 4000 | LMNA | umls:C0410190 | UNIPROT | Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. | 0.447057489 | 2003 | LMNA | 1 | 156114991 | C | G,T |
| rs58436778 | 10939567 | 4000 | LMNA | umls:C0410190 | UNIPROT | Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. | 0.447057489 | 2000 | LMNA | 1 | 156115052 | A | G |
| rs58917027 | 10908904 | 4000 | LMNA | umls:C0410190 | UNIPROT | Mutations in the rod domain of the lamin A/C gene may cause the full clinical spectrum of EDMD-AD. | 0.447057489 | 2000 | LMNA | 1 | 156130708 | A | C,G |
| rs58932704 | 18396274 | 4000 | LMNA | umls:C0410190 | BeFree | Overexpression of the EDMD lamin A R453W mutation in C2C12 myoblasts impairs myogenic differentiation. | 0.447057489 | 2008 | LMNA | 1 | 156136413 | C | T |
| rs58932704 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156136413 | C | T |
| rs58932704 | 25343322 | 4000 | LMNA | umls:C0410190 | BeFree | Here we have focused on autosomal dominant Emery-Dreifuss Muscular Dystrophy, one such laminopathy where R453W is the causative mutation located in the Ig domain of lamin A. | 0.447057489 | 2015 | LMNA | 1 | 156136413 | C | T |
| rs59332535 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156134911 | G | A |
| rs59653062 | 16825283 | 4000 | LMNA | umls:C0410190 | BeFree | We used the heart-selective alpha-myosin heavy chain promoter to drive expression in transgenic mice of human wild-type and M371K lamin A, which causes EDMD. | 0.447057489 | 2006 | LMNA | 1 | 156136076 | T | A |
| rs59931416 | 11503164 | 4000 | LMNA | umls:C0410190 | UNIPROT | Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. | 0.447057489 | 2001 | LMNA | 1 | 156115066 | C | A,T |
| rs60446065 | 11503164 | 4000 | LMNA | umls:C0410190 | UNIPROT | Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. | 0.447057489 | 2001 | LMNA | 1 | 156115045 | G | A |
| rs60458016 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156136036 | G | A,T |
| rs60662302 | 20848652 | 4000 | LMNA | umls:C0410190 | UNIPROT | Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. | 0.447057489 | 2011 | LMNA | 1 | 156138593 | G | A |
| rs60695352 | 10939567 | 4000 | LMNA | umls:C0410190 | UNIPROT | Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. | 0.447057489 | 2000 | LMNA | 1 | 156115067 | G | A,C |
| rs60864230 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156130658 | G | A,C,T |
| rs60864230 | 11503164 | 4000 | LMNA | umls:C0410190 | UNIPROT | Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. | 0.447057489 | 2001 | LMNA | 1 | 156130658 | G | A,C,T |
| rs60934003 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156137213 | T | C |
| rs61046466 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156114934 | C | T |
| rs61578124 | 11503164 | 4000 | LMNA | umls:C0410190 | UNIPROT | Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. | 0.447057489 | 2001 | LMNA | 1 | 156114992 | G | C,T |
| rs794726921 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156114966 | C | - |
| rs797045011 | NA | 4000 | LMNA | umls:C0410190 | CLINVAR | NA | 0.447057489 | NA | LMNA | 1 | 156135314 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1387 |
|---|---|
| Disease | autosomal dominant emery-dreifuss muscular dystrophy |
| Case | (Waiting for update.) |