Details of Disease

General Information of Disease (ID: DISSLFZ4)

Disease Name	Hypoplastic left heart syndrome
Synonyms	HLHS
Disease Class	LA89: Functionally univentricular heart
Definition	Hypoplastic left heart syndrome (HLHS) refers to the abnormal development of the left-sided cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as well as mitral atresia or stenosis.\|prototype_pattern
Disease Hierarchy	DIS6SVEE: Syndromic disease DISMT2VZ: Cardiogenetic disease DISCLJ0F: Congenital left-sided heart lesions DISQBA23: Congenital heart disease DISE1TU5: Univentricular cardiopathy DISSLFZ4: Hypoplastic left heart syndrome
ICD Code	ICD-11 ICD-11: LA89.3 ICD-10 ICD-10: Q23.4 Expand ICD-11 'LA89.3 Expand ICD-10 'Q23.4
Disease Identifiers	MONDO ID MONDO_0004933 MESH ID D018636 UMLS CUI C0152101 MedGen ID 57746 HPO ID HP:0004383 Orphanet ID 2248 SNOMED CT ID 62067003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Longeveron Mesenchymal Stem Cells	DMDUGIQ	Phase 1/2	Cell therapy	[1]
------------------------------------------------------------------------------------

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJA1	TT4F7SL	moderate	SusceptibilityMutation	[2]
HAAO	TTWON83	Strong	CausalMutation	[3]
KYNU	TTWQM3J	Strong	CausalMutation	[3]
NOTCH1	TTB1STW	Strong	Biomarker	[4]
------------------------------------------------------------------------------------

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXF1	OT2CJZ5K	Limited	Genetic Variation	[5]
JAM3	OTX0F9QL	Limited	Biomarker	[6]
NKX2-5	OTS1SAWM	Disputed	Biomarker	[7]
PCDHA13	OTINVKS2	moderate	Biomarker	[8]
PCDHA9	OTMDYFZR	moderate	Biomarker	[8]
FOXL1	OT89XFPN	Strong	Genetic Variation	[9]
HAND1	OTN4IPVV	Strong	Genetic Variation	[10]
MYH6	OT3YNCH1	Strong	Genetic Variation	[11]
SAP130	OT01SO0E	Strong	Biomarker	[8]
------------------------------------------------------------------------------------


⏷ Show the Full List of 9 DOT(s)

References

1	ClinicalTrials.gov (NCT03525418) Longeveron Mesenchymal Stem Cells (LMSCs) Delivered During Stage II Surgery for Hypoplastic Left Heart Syndrome (ELPIS) (ELPIS). U.S. National Institutes of Health.
2	Hypoplastic left heart syndrome: new genetic insights.J Am Coll Cardiol. 2009 Mar 24;53(12):1072-4. doi: 10.1016/j.jacc.2008.12.024.
3	NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552.
4	NOTCH1-Dependent Nitric Oxide Signaling Deficiency in Hypoplastic Left Heart Syndrome Revealed Through Patient-Specific Phenotypes Detected in Bioengineered Cardiogenesis.Stem Cells. 2017 Apr;35(4):1106-1119. doi: 10.1002/stem.2582. Epub 2017 Mar 5.
5	Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.Am J Med Genet A. 2019 Jul;179(7):1325-1329. doi: 10.1002/ajmg.a.61162. Epub 2019 May 9.
6	Narrowing the critical region within 11q24-qter for hypoplastic left heart and identification of a candidate gene, JAM3, expressed during cardiogenesis.Genomics. 2002 Apr;79(4):475-8. doi: 10.1006/geno.2002.6742.
7	Point mutations in murine Nkx2-5 phenocopy human congenital heart disease and induce pathogenic Wnt signaling.JCI Insight. 2017 Mar 23;2(6):e88271. doi: 10.1172/jci.insight.88271.
8	The complex genetics of hypoplastic left heart syndrome.Nat Genet. 2017 Jul;49(7):1152-1159. doi: 10.1038/ng.3870. Epub 2017 May 22.
9	Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet. 2009 Jun;84(6):780-91. doi: 10.1016/j.ajhg.2009.05.005. Epub 2009 Jun 4.
10	The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.Cardiovasc Res. 2017 Dec 1;113(14):1732-1742. doi: 10.1093/cvr/cvx166.
11	Impact of MYH6 variants in hypoplastic left heart syndrome.Physiol Genomics. 2016 Dec 1;48(12):912-921. doi: 10.1152/physiolgenomics.00091.2016. Epub 2016 Oct 27.