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	emery dreifuss muscular dystrophy

Disease ID	1034
Disease	emery dreifuss muscular dystrophy
Definition	A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.
Synonym	benign scapuloperoneal muscular dystrophy with early contractures emd - emery-dreifuss muscular dystrophy emery dreifuss syndrome emery-dreifuss muscular dystrophy emery-dreifuss muscular dystrophy (disorder) emery-dreifuss syndrome emery-dreifuss type muscular dystrophy muscular dystrophy, emery dreifuss muscular dystrophy, emery-dreifuss muscular dystrophy, emery-dreifuss [disease/finding] muscular dystrophy, emery-dreifuss type
Orphanet	ORPHANET:261
DOID	DOID:11726
UMLS	C0410189
MeSH	D020389
SNOMED-CT	SNOMEDCT_US_2016_09_01:111508004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0878544 \| cardiomyopathy \| 4 C0007193 \| dilated cardiomyopathy \| 2 C0018799 \| cardiac disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 2273 \| FHL1 \| UniProtKB-KW 23345 \| SYNE1 \| CTD_human;UniProtKB-KW;UNIPROT 23224 \| SYNE2 \| CTD_human;UniProtKB-KW;UNIPROT 2010 \| EMD \| CTD_human;GHR;UNIPROT;UniProtKB-KW 4000 \| LMNA \| CLINVAR;CTD_human;GHR;UNIPROT;UniProtKB-KW 79188 \| TMEM43 \| UniProtKB-KW
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:58) 10555 \| AGPAT2 \| 1.164 \| DISEASES 439 \| ASNA1 \| 2.68 \| DISEASES 488 \| ATP2A2 \| 1.631 \| DISEASES 10134 \| BCAP31 \| 2.032 \| DISEASES 9564 \| BCAR1 \| 1.071 \| DISEASES 9774 \| BCLAF1 \| 3.969 \| DISEASES 825 \| CAPN3 \| 3.218 \| DISEASES 859 \| CAV3 \| 1.854 \| DISEASES 1291 \| COL6A1 \| 2.363 \| DISEASES 1499 \| CTNNB1 \| 1.355 \| DISEASES 1756 \| DMD \| 3.219 \| DISEASES 1785 \| DNM2 \| 1.526 \| DISEASES 285489 \| DOK7 \| 1.596 \| DISEASES 1837 \| DTNA \| 1.721 \| DISEASES 8291 \| DYSF \| 1.797 \| DISEASES 23741 \| EID1 \| 1.932 \| DISEASES 6785 \| ELOVL4 \| 1.509 \| DISEASES 2010 \| EMD \| 8.27 \| DISEASES 2157 \| F8 \| 2.154 \| DISEASES 2280 \| FKBP1A \| 1.354 \| DISEASES 642489 \| FKBP1C \| 1.45 \| DISEASES 79147 \| FKRP \| 1.192 \| DISEASES 2316 \| FLNA \| 1.147 \| DISEASES 2317 \| FLNB \| 1.437 \| DISEASES 2556 \| GABRA3 \| 2.204 \| DISEASES 2804 \| GOLGB1 \| 2.242 \| DISEASES 3679 \| ITGA7 \| 2.08 \| DISEASES 3831 \| KLC1 \| 1.699 \| DISEASES 3908 \| LAMA2 \| 3.502 \| DISEASES 4000 \| LMNA \| 6.954 \| DISEASES 84823 \| LMNB2 \| 4.219 \| DISEASES 4008 \| LMO7 \| 4.751 \| DISEASES 57134 \| MAN1C1 \| 1.924 \| DISEASES 4208 \| MEF2C \| 1.979 \| DISEASES 57591 \| MKL1 \| 2.175 \| DISEASES 4534 \| MTM1 \| 1.037 \| DISEASES 23077 \| MYCBP2 \| 1.442 \| DISEASES 93649 \| MYOCD \| 1.275 \| DISEASES 23310 \| NCAPD3 \| 2.747 \| DISEASES 5077 \| PAX3 \| 1.43 \| DISEASES 5081 \| PAX7 \| 3.152 \| DISEASES 5116 \| PCNT \| 1.308 \| DISEASES 8910 \| SGCE \| 1.091 \| DISEASES 10478 \| SLC25A17 \| 1.5 \| DISEASES 10479 \| SLC9A6 \| 1.772 \| DISEASES 84679 \| SLC9A7 \| 2.025 \| DISEASES 6709 \| SPTAN1 \| 1.256 \| DISEASES 23353 \| SUN1 \| 5.252 \| DISEASES 25777 \| SUN2 \| 5.71 \| DISEASES 23345 \| SYNE1 \| 5.126 \| DISEASES 23224 \| SYNE2 \| 5.012 \| DISEASES 199953 \| TMEM201 \| 1.635 \| DISEASES 26092 \| TOR1AIP1 \| 2.76 \| DISEASES 7347 \| UCHL3 \| 2.325 \| DISEASES 7485 \| WRB \| 1.895 \| DISEASES 7503 \| XIST \| 1.358 \| DISEASES 8565 \| YARS \| 3.175 \| DISEASES 91746 \| YTHDC1 \| 3.016 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1034
Disease	emery dreifuss muscular dystrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:3) HP:0001638 \| Cardiomyopathy \| 4 HP:0001644 \| Congestive cardiomyopathy \| 2 HP:0001297 \| Cerebral vascular events \| 2

Disease ID	1034
Disease	emery dreifuss muscular dystrophy
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0878544 \| cardiomyopathy \| 4 C0018799 \| cardiac disease \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs267607545	15748902	4000	LMNA	umls:C0410189	BeFree	In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD).	0.273446939	2005	LMNA	1	156136121	G	A,T
rs267607594	18816602	4000	LMNA	umls:C0410189	BeFree	We report the clinical characteristics, genetic analysis, and muscle biopsy findings of a family with Emery-Dreifuss muscular dystrophy and a novel mutation (Leu162Pro) in the LMNA gene.	0.273446939	2008	LMNA	1	156130745	T	C
rs57520892	NA	4000	LMNA	umls:C0410189	CLINVAR	NA	0.273446939	NA	LMNA	1	156137204	G	A,C
rs57920071	15748902	4000	LMNA	umls:C0410189	BeFree	In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD).	0.273446939	2005	LMNA	1	156136984	C	T
rs58912633	15622532	4000	LMNA	umls:C0410189	BeFree	We identified the underlying cause to be a hitherto unreported de novo missense mutation in the LMNA gene (S143F) encoding the nuclear envelope proteins lamins A and C. Although LMNA mutations have been known to cause Hutchinson-Gilford progeria syndrome and Emery-Dreifuss muscular dystrophy, this is the first report of a patient combining features of these two phenotypes because of a single mutation in LMNA.	0.273446939	2005	LMNA	1	156130688	C	T
rs58932704	16227433	84823	LMNB2	umls:C0410189	BeFree	The introduction of a point mutation in LB3T-Ig (R454W; LB3T-IgRW), known to cause Emery-Dreifuss muscular dystrophy when present in lamin A, does not inhibit lamin polymerization, chromatin decondensation, or nuclear assembly and growth.	0.000271442	2005	LMNA	1	156136413	C	T
rs58932704	15748902	4000	LMNA	umls:C0410189	BeFree	In search of a structural cause for the variety of inherited diseases caused by A-type lamin mutations, we have studied the molecular organization of GFP-tagged lamin A and lamin C mutants R453W and R386K, found in Emery-Dreifuss muscular dystrophy (EDMD), and lamin A and lamin C mutant R482W, found in patients with Dunnigan-type familial partial lipodystrophy (FPLD).	0.273446939	2005	LMNA	1	156136413	C	T
rs59653062	16825283	4000	LMNA	umls:C0410189	BeFree	Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy.	0.273446939	2006	LMNA	1	156136076	T	A
rs61672878	15053843	4000	LMNA	umls:C0410189	BeFree	We have studied the expression and the localization of nuclear envelope proteins in three different cell types and muscle tissue of an AD-EDMD patient carrying a point mutation R377H in the lamin A/C gene.	0.273446939	2004	LMNA	1	156136094	G	A,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1034
Disease	emery dreifuss muscular dystrophy
Case	(Waiting for update.)

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