PedAM

Pediatric Disease Annotations & Medicines


	hypoplastic left heart syndrome

Disease ID	4
Disease	hypoplastic left heart syndrome
Definition	A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.
Synonym	heart hypoplastic left heart hypoplastic left syndrome hlh - hypoplastic left heart syndrome hlhs hlhs - hypoplastic left heart syndrome hlhs1 hypoplas left heart synd hypoplasia left heart hypoplastic left heart hypoplastic left heart syndrome (disorder) hypoplastic left heart syndrome 1 hypoplastic left heart syndrome [disease/finding] left heart hypoplasia syndrome left heart hypoplastic left heart syndrome, hypoplastic left hypoplastic heart underdeveloped left heart
Orphanet	ORPHANET:2248
OMIM	OMIM:241550
DOID	DOID:9955
ICD10	ICD10CM:Q23.4
UMLS	C0152101
MeSH	D018636
SNOMED-CT	SNOMEDCT_US_2016_09_01:62067003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0003507 \| aortic stenosis \| 9 C0040961 \| tricuspid regurgitation \| 4 C1956257 \| pulmonary stenosis \| 2 C0796004 \| kabuki syndrome \| 2 C0018801 \| heart failure \| 1 C0003504 \| aortic regurgitation \| 1 C0034089 \| pulmonary valve stenosis \| 1 C0003507 \| aortic valve stenosis \| 1 C0152021 \| congenital heart disease \| 1 C0795690 \| omphalocele \| 1 C0014117 \| endocardial fibroelastosis \| 1 C0028326 \| noonan syndrome \| 1 C0040961 \| tricuspid valve regurgitation \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) NKX2-5 \| 1482 \| ORPHANET GJA1 \| 2697 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1906 \| EDN1 \| infer 2697 \| GJA1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:100) 50 \| ACO2 \| DISEASES 10278 \| EFS \| DISEASES 3163 \| HMOX2 \| DISEASES 55131 \| RBM28 \| DISEASES 59 \| ACTA2 \| DISEASES 9421 \| HAND1 \| DISEASES 7799 \| PRDM2 \| DISEASES 6909 \| TBX2 \| DISEASES 92 \| ACVR2A \| DISEASES 3623 \| INHA \| DISEASES 696 \| BTN1A1 \| DISEASES 6945 \| MLX \| DISEASES 2657 \| GDF1 \| DISEASES 2006 \| ELN \| DISEASES 27112 \| FAM155B \| DISEASES 9997 \| SCO2 \| DISEASES 182 \| JAG1 \| DISEASES 269 \| AMHR2 \| DISEASES 6521 \| SLC4A1 \| DISEASES 2294 \| FOXF1 \| DISEASES 27443 \| CECR2 \| DISEASES 23523 \| CABIN1 \| DISEASES 3299 \| HSF4 \| DISEASES 29899 \| GPSM2 \| DISEASES 644 \| BLVRA \| DISEASES 5286 \| PIK3C2A \| DISEASES 7008 \| TEF \| DISEASES 1000 \| CDH2 \| DISEASES 54858 \| PGPEP1 \| DISEASES 388 \| RHOB \| DISEASES 3934 \| LCN2 \| DISEASES 4851 \| NOTCH1 \| DISEASES 90952 \| ESAM \| DISEASES 6876 \| TAGLN \| DISEASES 2697 \| GJA1 \| DISEASES 651 \| BMP3 \| DISEASES 4838 \| NODAL \| DISEASES 7547 \| ZIC3 \| DISEASES 6529 \| SLC6A1 \| DISEASES 1636 \| ACE \| DISEASES 6285 \| S100B \| DISEASES 9965 \| FGF19 \| DISEASES 8320 \| EOMES \| DISEASES 4724 \| NDUFS4 \| DISEASES 168667 \| BMPER \| DISEASES 6901 \| TAZ \| DISEASES 89927 \| C16orf45 \| DISEASES 993 \| CDC25A \| DISEASES 6910 \| TBX5 \| DISEASES 9743 \| ARHGAP32 \| DISEASES 2744 \| GLS \| DISEASES 64388 \| GREM2 \| DISEASES 27086 \| FOXP1 \| DISEASES 137814 \| NKX2-6 \| DISEASES 78987 \| CRELD1 \| DISEASES 8243 \| SMC1A \| DISEASES 2300 \| FOXL1 \| DISEASES 2303 \| FOXC2 \| DISEASES 1482 \| NKX2-5 \| DISEASES 115908 \| CTHRC1 \| DISEASES 9573 \| GDF3 \| DISEASES 3266 \| ERAS \| DISEASES 7137 \| TNNI3 \| DISEASES 132884 \| EVC2 \| DISEASES 9536 \| PTGES \| DISEASES 390259 \| BSX \| DISEASES 4625 \| MYH7 \| DISEASES 5265 \| SERPINA1 \| DISEASES 4624 \| MYH6 \| DISEASES 55784 \| MCTP2 \| DISEASES 56980 \| PRDM10 \| DISEASES 5294 \| PIK3CG \| DISEASES 1201 \| CLN3 \| DISEASES 1066 \| CES1 \| DISEASES 2153 \| F5 \| DISEASES 153 \| ADRB1 \| DISEASES 653 \| BMP5 \| DISEASES 729238 \| SFTPA2 \| DISEASES 3055 \| HCK \| DISEASES 5095 \| PCCA \| DISEASES 4524 \| MTHFR \| DISEASES 5799 \| PTPRN2 \| DISEASES 7247 \| TSN \| DISEASES 2113 \| ETS1 \| DISEASES 2875 \| GPT \| DISEASES 594855 \| CPLX3 \| DISEASES 4239 \| MFAP4 \| DISEASES 6093 \| ROCK1 \| DISEASES 8091 \| HMGA2 \| DISEASES 150572 \| SMYD1 \| DISEASES 27244 \| SESN1 \| DISEASES 653509 \| SFTPA1 \| DISEASES 3702 \| ITK \| DISEASES 23543 \| RBFOX2 \| DISEASES 79813 \| EHMT1 \| DISEASES 111 \| ADCY5 \| DISEASES 9752 \| PCDHA9 \| DISEASES 5053 \| PAH \| DISEASES 56342 \| PPAN \| DISEASES 9298 \| SNORD31 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) NKX2-5 \| 5q34 GJA1 \| 6q22.31

Disease ID	4
Disease	hypoplastic left heart syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:9) HP:0001643 \| Patent ductus arteriosus HP:0002916 \| Abnormality of chromosome segregation HP:0012304 \| Hypoplastic aortic arch HP:0004383 \| Hypoplastic left heart HP:0011560 \| Mitral atresia HP:0001631 \| Atrial septal defect HP:0004383 \| Underdeveloped left heart HP:0001718 \| Mitral stenosis HP:0009800 \| Maternal diabetes
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0001650 \| Valvular aortic stenosis \| 10 HP:0005180 \| Tricuspid insufficiency \| 4 HP:0010883 \| Aortic atresia \| 3 HP:0001642 \| Pulmonic stenosis \| 2 HP:0012387 \| Bronchitis \| 1 HP:0001750 \| Single ventricle \| 1 HP:0012722 \| Heart block \| 1 HP:0012664 \| Reduced ejection fraction \| 1 HP:0004961 \| Pulmonary artery sling \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0005607 \| Tracheobronchial anomalies \| 1 HP:0005160 \| Total anomalous pulmonary venous return \| 1 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0001631 \| Atria septal defect \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0001706 \| Endocardial fibroelastosis \| 1 HP:0004935 \| Pulmonary atresia \| 1 HP:0001539 \| Omphalocele \| 1 HP:0010772 \| Anomalous pulmonary venous return \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0004387 \| Enterocolitis \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0001651 \| Thoracic situs inversus \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0004415 \| Pulmonary artery stenosis \| 1 HP:0011641 \| Coronary artery fistula \| 1

Disease ID	4
Disease	hypoplastic left heart syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:21) C2609313 \| pericardial adhesions C1550639 \| fistula C0920157 \| mesenteric ischemia C0876993 \| ventricular thrombosis C0741299 \| atrial thrombus C0700095 \| neuroblastoma C0340766 \| venous hypertension C0265881 \| hypoplastic aortic arch C0265800 \| congenital pulmonary lymphangiectasis C0042373 \| vascular disease C0040961 \| tricuspid valve regurgitation C0040961 \| tricuspid regurgitation C0025958 \| microcephaly C0024141 \| le syndrome C0021308 \| infarction C0019570 \| hirschsprung's disease C0018817 \| atrial septal defect C0018801 \| heart failure C0005779 \| coagulopathy C0005411 \| biliary atresia C0003504 \| aortic insufficiency
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0040961 \| tricuspid regurgitation \| 4 C2609313 \| pericardial adhesions \| 1 C0040961 \| tricuspid valve regurgitation \| 1 C0018801 \| heart failure \| 1

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

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104893965	NA	2697	GJA1	umls:C0152101	CLINVAR	NA	0.482367032	NA	GJA1	6	121447974	G	A
rs2227885	NA	2697	GJA1	umls:C0152101	CLINVAR	NA	0.482367032	NA	GJA1	6	121447932	G	A
rs2227885	11470490	2697	GJA1	umls:C0152101	UNIPROT	Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE).	0.482367032	2001	GJA1	6	121447932	G	A

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001643	Patent ductus arteriosus	MP:0003139	patent ductus arteriosus;HP:0004383	Hypoplastic left heart

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001643	Patent ductus arteriosus	MP:0011249	abdominal situs inversus;HP:0000252	Microcephaly

Chemical(Total Drugs:1)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0152101	valproic acid	D014635	99-66-1	hypoplastic left heart syndrome	MESH:D018636	marker/mechanism	8211818

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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