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encyclopedia of Rare Disease Annotation for Precision Medicine



   peripartum cardiomyopathy
  

Disease ID 1038
Disease peripartum cardiomyopathy
Definition
Peripartum cardiomyopathy (PPCM) is a form of dilated cardiomyopathy that is defined as a deterioration in cardiac function presenting typically between the last month of pregnancy and up to six months postpartum. As with other forms of dilated cardiomyopathy, PPCM involves systolic dysfunction of the heart with a decrease of the left ventricular ejection fraction (EF) with associated congestive heart failure and an increased risk of atrial and ventricular arrhythmias, thromboembolism (blockage of a blood vessel by a blood clot), and even sudden cardiac death. In essence, the heart muscle cannot contract forcefully enough to pump adequate amounts of blood for the needs of the body's vital organs.[1][2][3][4][5] - Wikipedia
Reference: https://en.wikipedia.org/wiki/peripartum cardiomyopathy
Synonym
cardiomyopathy peripartum
dilated cardiomyopathy secondary to peripartum heart disease
dilated cardiomyopathy secondary to peripartum heart disease (disorder)
Orphanet
DOID
ICD10
UMLS
C0877208
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:13)
C0018801  |  heart failure  |  4
C0878544  |  cardiomyopathy  |  4
C0032914  |  preeclampsia  |  2
C1960469  |  left ventricular noncompaction  |  2
C0035229  |  respiratory insufficiency  |  1
C0007785  |  cerebral infarct  |  1
C0018801  |  cardiac failure  |  1
C0007785  |  cerebral infarcts  |  1
C0003873  |  rheumatoid arthritis  |  1
C0003864  |  arthritis  |  1
C0018213  |  graves' disease  |  1
C0087086  |  thrombi  |  1
C0040053  |  thrombosis  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:34)
27032  |  ATP2C1  |  1.197  |  DISEASES
9531  |  BAG3  |  1.822  |  DISEASES
665  |  BNIP3L  |  2.151  |  DISEASES
29126  |  CD274  |  2.323  |  DISEASES
959  |  CD40LG  |  1.526  |  DISEASES
1003  |  CDH5  |  1.044  |  DISEASES
355  |  FAS  |  2.471  |  DISEASES
11245  |  GPR176  |  2.371  |  DISEASES
3030  |  HADHA  |  3.362  |  DISEASES
3043  |  HBB  |  1.31  |  DISEASES
3045  |  HBD  |  2.323  |  DISEASES
3167  |  HMX2  |  2.7  |  DISEASES
3360  |  HTR4  |  1.48  |  DISEASES
3654  |  IRAK1  |  1.47  |  DISEASES
3980  |  LIG3  |  1.528  |  DISEASES
4607  |  MYBPC3  |  1.465  |  DISEASES
4624  |  MYH6  |  1.531  |  DISEASES
4625  |  MYH7  |  2.384  |  DISEASES
4878  |  NPPA  |  1.963  |  DISEASES
4879  |  NPPB  |  2.581  |  DISEASES
5133  |  PDCD1  |  2.551  |  DISEASES
5228  |  PGF  |  1.51  |  DISEASES
5618  |  PRLR  |  1.479  |  DISEASES
5664  |  PSEN2  |  1.003  |  DISEASES
6019  |  RLN2  |  5.022  |  DISEASES
6181  |  RPLP2  |  2.463  |  DISEASES
84816  |  RTN4IP1  |  3.267  |  DISEASES
6776  |  STAT5A  |  1.506  |  DISEASES
7137  |  TNNI3  |  1.487  |  DISEASES
7139  |  TNNT2  |  1.778  |  DISEASES
83696  |  TRAPPC9  |  2.704  |  DISEASES
7273  |  TTN  |  2.148  |  DISEASES
51366  |  UBR5  |  1.804  |  DISEASES
7422  |  VEGFA  |  1.041  |  DISEASES
Locus(Waiting for update.)
Disease ID 1038
Disease peripartum cardiomyopathy
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:21)
HP:0001635  |  Congestive heart failure  |  5
HP:0001638  |  Cardiomyopathy  |  4
HP:0006573  |  Acute fatty liver  |  2
HP:0030682  |  Left ventricular noncompaction  |  2
HP:0100602  |  Pre-eclampsia  |  2
HP:0001649  |  Tachycardia  |  2
HP:0001397  |  Hepatic steatosis  |  2
HP:0030149  |  Cardiovascular shock  |  1
HP:0011675  |  Arrhythmias  |  1
HP:0001907  |  Thromboembolic disease  |  1
HP:0002721  |  Immunodeficiency  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0100758  |  Gangrene  |  1
HP:0001663  |  Ventricular fibrillation  |  1
HP:0001279  |  Syncope  |  1
HP:0012173  |  Postural tachycardia  |  1
HP:0001369  |  Arthritis  |  1
HP:0002093  |  progressive respiratory failure  |  1
HP:0001644  |  Congestive cardiomyopathy  |  1
HP:0011947  |  Respiratory infection  |  1
HP:0004756  |  Ventricular tachycardia  |  1
Disease ID 1038
Disease peripartum cardiomyopathy
Manually Symptom
UMLS  | Name(Total Manually Symptoms:14)
C2707305  |  shortness of breath
C2364133  |  infection
C1962971  |  myocarditis
C1299624  |  postural tachycardia syndrome
C0948600  |  organ failure
C0587044  |  left ventricular thrombus
C0271240  |  unilateral blindness
C0087086  |  thrombi
C0022116  |  ischemia
C0018802  |  congestive heart failure
C0018801  |  cardiac failure
C0017086  |  gangrene
C0014378  |  enterovirus infection
C0000727  |  acute abdomen
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:4)
C0087086  |  thrombi  |  1
C0018801  |  cardiac failure  |  1
C0017086  |  gangrene  |  1
C1299624  |  postural tachycardia syndrome  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:11)
CHR POS SNPID REF ALT ORI_SNPID PMID P_VALUE P_VALUE_TEXT OR/BETA CI95_TEXT GWAS_INITIAL_SAMPLE_SIZE SUB_POPULATION SUPER_POPULATION GWAS_TRAIT HPO_ID HPO_TERM DO_ID DO_TERM MESH_ID MESH_TERM EFO_ID EFO_TERM DOLITE_TERM RISK_ALLELE PUBLICATION_TYPE AA GENE_SYMBOL TYPE REFGENE
6132908879rs4458717TCrs4458717216659882.64E-11NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
6139094355rs2273509TCrs2273509216659881.84E-04NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
1149401125rs7102702TGrs7102702216659881.35E-07NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
1228017522rs258415ACrs258415216659887.92E-19NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
1471884567rs12880291GTrs12880291216659882.39E-04NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
1471909854rs12881957CTrs12881957216659881.85E-04NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
1471997723rs17178387AGrs17178387216659882.38E-04NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
1472016613rs7152674GTrs7152674216659882.80E-04NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
1472057355rs11848785GArs11848785216659882.40E-04NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
1472059551rs3784064GArs3784064216659882.79E-04NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
1586085776rs2169876TCrs2169876216659882.35E-14NANANA41 healthy females; 703 female European ancestry controlsNOPOP(41)European(703)ALL(744)NOPOP(41)EUR(703)ALL(744)Peripartum cardiomyopathyHPOID:0001638CardiomyopathyDOID:9997peripartum cardiomyopathyD002311Cardiomyopathy, DilatedNANAHeart diseaseNAResearch Support, Non-U.S. Gov't
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1038
Disease peripartum cardiomyopathy
Case(Waiting for update.)