PedAM

Pediatric Disease Annotations & Medicines


	restrictive cardiomyopathy

Disease ID	818
Disease	restrictive cardiomyopathy
Definition	A form of CARDIAC MUSCLE disease in which the ventricular walls are excessively rigid, impeding ventricular filling. It is marked by reduced diastolic volume of either or both ventricles but normal or nearly normal systolic function. It may be idiopathic or associated with other diseases (ENDOMYOCARDIAL FIBROSIS or AMYLOIDOSIS) causing interstitial fibrosis.
Synonym	cardiomyopathies, restrictive cardiomyopathy restrictive cardiomyopathy, constrictive cardiomyopathy, restrictive cardiomyopathy, restrictive [disease/finding] constrictive cardiomyopathy familial restrictive cardiomyopathy primary restrictive cardiomyopathy primary restrictive cardiomyopathy (disorder) rcm - restrictive cardiomyopathy restrictive cardiomyopathies restrictive cardiomyopathy (disorder)
Orphanet	ORPHANET:217632 ORPHANET:217635
DOID	DOID:397
UMLS	C0007196
MeSH	D002313
SNOMED-CT	SNOMEDCT_US_2016_09_01:90828009;SNOMEDCT_US_2016_09_01:415295002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0018801 \| heart failure \| 13 C0553980 \| endomyocardial fibrosis \| 3 C0018802 \| congestive heart failure \| 3 C0020538 \| hypertension \| 2 C0040053 \| thrombosis \| 2 C0020542 \| pulmonary hypertension \| 2 C0031039 \| pericardial effusion \| 2 C0018802 \| congestive cardiac failure \| 1 C0018801 \| cardiac failure \| 1 C0031046 \| pericarditis \| 1 C0021831 \| enteropathy \| 1 C0040053 \| thrombus \| 1 C0002726 \| amyloidosis \| 1 C0031048 \| constrictive pericarditis \| 1 C0033680 \| protein-losing enteropathy \| 1 C0022661 \| chronic renal failure \| 1 C0034065 \| pulmonary embolism \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) RNR1 \| 6052 \| CLINVAR TNNI3 \| 7137 \| CLINVAR;CTD_human;GHR MYH7 \| 4625 \| CLINVAR;GHR TNNT2 \| 7139 \| GHR ACTC1 \| 70 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:69) 6362 \| CCL18 \| DISEASES 368 \| ABCC6 \| DISEASES 7414 \| VCL \| DISEASES 6445 \| SGCG \| DISEASES 973 \| CD79A \| DISEASES 1410 \| CRYAB \| DISEASES 4633 \| MYL2 \| DISEASES 3567 \| IL5 \| DISEASES 374291 \| NDUFS7 \| DISEASES 3336 \| HSPE1 \| DISEASES 7276 \| TTR \| DISEASES 182 \| JAG1 \| DISEASES 325 \| APCS \| DISEASES 5156 \| PDGFRA \| DISEASES 6741 \| SSB \| DISEASES 4069 \| LYZ \| DISEASES 8048 \| CSRP3 \| DISEASES 7168 \| TPM1 \| DISEASES 6567 \| SLC16A2 \| DISEASES 6876 \| TAGLN \| DISEASES 2697 \| GJA1 \| DISEASES 84910 \| TMEM87B \| DISEASES 2776 \| GNAQ \| DISEASES 7547 \| ZIC3 \| DISEASES 51422 \| PRKAG2 \| DISEASES 26060 \| APPL1 \| DISEASES 70 \| ACTC1 \| DISEASES 1636 \| ACE \| DISEASES 4634 \| MYL3 \| DISEASES 6037 \| RNASE3 \| DISEASES 171389 \| NLRP6 \| DISEASES 1605 \| DAG1 \| DISEASES 64388 \| GREM2 \| DISEASES 56776 \| FMN2 \| DISEASES 2318 \| FLNC \| DISEASES 342184 \| FMN1 \| DISEASES 81608 \| FIP1L1 \| DISEASES 7135 \| TNNI1 \| DISEASES 1180 \| CLCN1 \| DISEASES 7137 \| TNNI3 \| DISEASES 7273 \| TTN \| DISEASES 10920 \| COPS8 \| DISEASES 5154 \| PDGFA \| DISEASES 4625 \| MYH7 \| DISEASES 4624 \| MYH6 \| DISEASES 84665 \| MYPN \| DISEASES 1735 \| DIO3 \| DISEASES 800 \| CALD1 \| DISEASES 1756 \| DMD \| DISEASES 7139 \| TNNT2 \| DISEASES 9531 \| BAG3 \| DISEASES 282996 \| RBM20 \| DISEASES 959 \| CD40LG \| DISEASES 27063 \| ANKRD1 \| DISEASES 6709 \| SPTAN1 \| DISEASES 3055 \| HCK \| DISEASES 4879 \| NPPB \| DISEASES 190 \| NR0B1 \| DISEASES 1832 \| DSP \| DISEASES 2254 \| FGF9 \| DISEASES 7018 \| TF \| DISEASES 3908 \| LAMA2 \| DISEASES 3920 \| LAMP2 \| DISEASES 3077 \| HFE \| DISEASES 339487 \| ZBTB8OS \| DISEASES 4607 \| MYBPC3 \| DISEASES 8972 \| MGAM \| DISEASES 7138 \| TNNT1 \| DISEASES 118425 \| PCAT4 \| DISEASES
Locus	(Waiting for update.)

Disease ID	818
Disease	restrictive cardiomyopathy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:19) HP:0001635 \| Congestive heart failure \| 14 HP:0001685 \| Myocardial fibrosis \| 3 HP:0006685 \| Endocardial fibrosis \| 3 HP:0001698 \| Pericardial effusions \| 2 HP:0000969 \| Dropsy \| 1 HP:0003774 \| End-stage renal failure \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0002204 \| Pulmonary embolism \| 1 HP:0005110 \| Atrial fibrillation \| 1 HP:0002243 \| Protein-losing enteropathy \| 1 HP:0001663 \| Ventricular fibrillation \| 1 HP:0002563 \| Constrictive pericarditis \| 1 HP:0000822 \| Hypertension \| 1 HP:0001649 \| Tachycardia \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0011034 \| Amyloid disease \| 1 HP:0002242 \| Enteropathy \| 1 HP:0001701 \| Pericarditis \| 1

Disease ID	818
Disease	restrictive cardiomyopathy
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0018801 \| heart failure \| 13 C0018802 \| congestive heart failure \| 3 C0340517 \| atrial thrombosis \| 1

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894724	19651143	7137	TNNI3	umls:C0007196	BeFree	Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.	0.253525943	2009	TNNI3	19	55154146	G	C,A
rs267606617	NA	4549	RNR1	umls:C0007196	CLINVAR	NA	0.12	NA	NA	MT	1555	A	G
rs397516142	NA	4625	MYH7	umls:C0007196	CLINVAR	NA	0.125362824	NA	MYH7	14	23425357	C	T,G
rs397516153	NA	4625	MYH7	umls:C0007196	CLINVAR	NA	0.125362824	NA	MYH7	14	23424935	G	T,A
rs727503260	NA	4625	MYH7	umls:C0007196	CLINVAR	NA	0.125362824	NA	MYH7	14	23425403	C	T,G
rs727503504	NA	7137	TNNI3	umls:C0007196	CLINVAR	NA	0.253525943	NA	TNNI3	19	55154071	G	C,A
rs730880154	NA	4625	MYH7	umls:C0007196	CLINVAR	NA	0.125362824	NA	MYH7	14	23433131	C	T,A
rs730880231	NA	7137	TNNI3	umls:C0007196	CLINVAR	NA	0.253525943	NA	TNNI3	19	55154057	C	G

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.)

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0007196	chloroquine	D002738	1954/5/7	cardiomyopathy, restrictive	MESH:D002313	marker/mechanism	11245140
C0007196	cyclophosphamide	D003520	50-18-0	cardiomyopathy, restrictive	MESH:D002313	marker/mechanism	8879620
C0007196	fenfluramine	D005277	458-24-2	cardiomyopathy, restrictive	MESH:D002313	marker/mechanism	9565497
C0007196	phentermine	D010645	122-09-8	cardiomyopathy, restrictive	MESH:D002313	marker/mechanism	9565497

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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