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	hypoplastic left heart syndrome

Disease ID	8
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:15) C0003507 \| aortic stenosis \| 10 C0040961 \| tricuspid regurgitation \| 4 C1956257 \| pulmonary stenosis \| 2 C0152021 \| congenital heart disease \| 2 C0796004 \| kabuki syndrome \| 2 C0003504 \| aortic regurgitation \| 1 C0003507 \| aortic valve stenosis \| 1 C0795690 \| omphalocele \| 1 C0018799 \| heart diseases \| 1 C0018801 \| heart failure \| 1 C0014117 \| endocardial fibroelastosis \| 1 C0028326 \| noonan syndrome \| 1 C0018799 \| heart disease \| 1 C0040961 \| tricuspid valve regurgitation \| 1 C0034089 \| pulmonary valve stenosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1482 \| NKX2-5 \| ORPHANET 2697 \| GJA1 \| CLINVAR;CTD_human;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 1906 \| EDN1 \| CIPHER 2697 \| GJA1 \| CIPHER;CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:46) 111 \| ADCY5 \| 1.994 \| DISEASES 153 \| ADRB1 \| 2.251 \| DISEASES 653 \| BMP5 \| 2.316 \| DISEASES 390259 \| BSX \| 2.855 \| DISEASES 1066 \| CES1 \| 1.66 \| DISEASES 1201 \| CLN3 \| 1.857 \| DISEASES 594855 \| CPLX3 \| 3.375 \| DISEASES 78987 \| CRELD1 \| 2.948 \| DISEASES 115908 \| CTHRC1 \| 2.25 \| DISEASES 79813 \| EHMT1 \| 2.183 \| DISEASES 3266 \| ERAS \| 4.474 \| DISEASES 2113 \| ETS1 \| 1.947 \| DISEASES 132884 \| EVC2 \| 2.889 \| DISEASES 2153 \| F5 \| 1.395 \| DISEASES 2303 \| FOXC2 \| 2.619 \| DISEASES 2300 \| FOXL1 \| 3.565 \| DISEASES 9573 \| GDF3 \| 2.255 \| DISEASES 2875 \| GPT \| 1.959 \| DISEASES 3055 \| HCK \| 2.234 \| DISEASES 8091 \| HMGA2 \| 1.682 \| DISEASES 3702 \| ITK \| 1.448 \| DISEASES 55784 \| MCTP2 \| 3.356 \| DISEASES 4239 \| MFAP4 \| 2.76 \| DISEASES 4524 \| MTHFR \| 1.397 \| DISEASES 4624 \| MYH6 \| 1.461 \| DISEASES 4625 \| MYH7 \| 1.357 \| DISEASES 1482 \| NKX2-5 \| 3.902 \| DISEASES 5053 \| PAH \| 1.318 \| DISEASES 5095 \| PCCA \| 1.984 \| DISEASES 9752 \| PCDHA9 \| 4.684 \| DISEASES 5294 \| PIK3CG \| 1.257 \| DISEASES 56342 \| PPAN \| 2.19 \| DISEASES 56980 \| PRDM10 \| 1.074 \| DISEASES 9536 \| PTGES \| 2.006 \| DISEASES 5799 \| PTPRN2 \| 1.561 \| DISEASES 23543 \| RBFOX2 \| 2.571 \| DISEASES 6093 \| ROCK1 \| 1.19 \| DISEASES 5265 \| SERPINA1 \| 1.406 \| DISEASES 27244 \| SESN1 \| 2.739 \| DISEASES 653509 \| SFTPA1 \| 2.124 \| DISEASES 729238 \| SFTPA2 \| 1.918 \| DISEASES 8243 \| SMC1A \| 1.97 \| DISEASES 150572 \| SMYD1 \| 3.284 \| DISEASES 9298 \| SNORD31 \| 3.444 \| DISEASES 7137 \| TNNI3 \| 2.308 \| DISEASES 7247 \| TSN \| 2.173 \| DISEASES
Locus	Symbol \| Locus(Total Locus:2) NKX2-5 \| 5q34 GJA1 \| 6q22.31

Disease ID	8
Disease	hypoplastic left heart syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:9) HP:0002916 \| Abnormality of chromosome segregation HP:0011560 \| Mitral atresia HP:0004383 \| Underdeveloped left heart HP:0001643 \| Patent ductus arteriosus HP:0009800 \| Maternal diabetes HP:0001718 \| Mitral stenosis HP:0012304 \| Hypoplastic aortic arch HP:0004383 \| Hypoplastic left heart HP:0001631 \| Atrial septal defect
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0001650 \| Valvular aortic stenosis \| 12 HP:0010883 \| Aortic atresia \| 6 HP:0005180 \| Tricuspid insufficiency \| 4 HP:0001750 \| Single ventricle \| 2 HP:0001631 \| Atria septal defect \| 2 HP:0001642 \| Pulmonic stenosis \| 2 HP:0005160 \| Total anomalous pulmonary venous return \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0011641 \| Coronary artery fistula \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0012664 \| Reduced ejection fraction \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0001539 \| Omphalocele \| 1 HP:0004935 \| Pulmonary atresia \| 1 HP:0010772 \| Anomalous pulmonary venous return \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0004961 \| Pulmonary artery sling \| 1 HP:0001651 \| Thoracic situs inversus \| 1 HP:0000822 \| Hypertension \| 1 HP:0012722 \| Heart block \| 1 HP:0004415 \| Pulmonary artery stenosis \| 1 HP:0005607 \| Tracheobronchial anomalies \| 1 HP:0000078 \| Genital abnormalities \| 1 HP:0001706 \| Endocardial fibroelastosis \| 1 HP:0010316 \| Ebstein's anomaly of the tricuspid valve \| 1 HP:0001627 \| Congenital heart defects \| 1 HP:0004387 \| Enterocolitis \| 1

Disease ID	8
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.)

Text Mining Genotype(Total 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:6)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001643	Patent ductus arteriosus	MP:0011662	persistent truncus arteriosus type ii	complete failure of the common arterial trunk opening out of both ventricles to divide into the aorta and pulmonary artery during development; type II is characterized by separate but proximate origins of the left and right pulmonary arterial branches fro
HP:0009800	Maternal diabetes	MP:0004803	increased susceptibility to autoimmune diabetes	greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas
HP:0004383	Hypoplastic left heart	MP:0012515	abnormal heart apex morphology	any structural anomaly of the lowest superficial part of the heart, normally directed downward, forward, and to the left, and overlapped by the left lung and pleura; the heart apex is formed by the inferolateral part of the left ventricle and responsible
HP:0002916	Abnormality of chromosome segregation	MP:0012069	abnormal horizontal basal cell of olfactory epithelium morphology	any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0001718	Mitral stenosis	MP:0006117	aortic valve stenosis	abnormal narrowing of the aortic valve
HP:0001631	Atria septal defect	MP:0011667	double outlet right ventricle with atrioventricular septal defect	a form of DORV in which there is also a complete atrioventricular canal

Mapped by homologous gene(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0011560	Mitral atresia	MP:0013781	abnormal mammary gland luminal epithelium morphology	any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti
HP:0002916	Abnormality of chromosome segregation	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0009800	Maternal diabetes	MP:0020101	abnormal hepatic glucose production	an anomaly in the production of glucose in the liver
HP:0001631	Atria septal defect	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001718	Mitral stenosis	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0004383	Hypoplastic left heart	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001643	Patent ductus arteriosus	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l

Disease ID	8
Disease	hypoplastic left heart syndrome
Case	(Waiting for update.)

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