Hypoplastic Left Heart Syndrome (HLHS)

Alias:
Hlhs
Atresia or Marked Hypoplasia, of Aortic Orifice or Valve, with Hypoplasia of Ascending Aorta and Defective Development of Left Ventricle with Mitral Valve Atresia
Atresia or Marked Hypoplasia of Aortic Orifice or Valve, with Hypoplasia of Ascending Aorta and Defective Development of Left Ventricle
Hypoplasia of Aortic Valve, in Hypoplastic Left Heart Syndrome
Ascending Aorta Hypoplasia, in Hypoplastic Left Heart Syndrome
Atresia of Mitral Valve, in Hypoplastic Left Heart Syndrome
Aortic Valve Atresia, in Hypoplastic Left Heart Syndrome
Hlhs - [hypoplastic Left Heart Syndrome]
Left Heart Hypoplasia Syndrome
Hypoplasia of the Left Heart
Hypoplastic Left Heart
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypoplastic Left Heart Syndrome, also known as hlhs, is related to aortic valve disease 1 and jacobsen syndrome. An important gene associated with Hypoplastic Left Heart Syndrome is TBX20 (T-Box Transcription Factor 20), and among its related pathways/superpathways are Cardiac conduction and Human Embryonic Stem Cell Pluripotency. The drugs Ambrisentan and Bosentan have been mentioned in the context of this disorder. Affiliated tissues include heart and skin, and related phenotypes are hypoplastic left heart and hypoplastic aortic arch
Related ID:
MESH:D018636
ICD11:1811800027

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Antenatal
1-9/100000
56
683
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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