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Hypoplastic left heart syndrome
2 OMIM references -
2 associated genes
101 connected diseases
8 signs/symptoms
Disease Type of connection
Familial atrial fibrillation
Tetralogy of Fallot
Atrial septal defect, ostium secundum type
Single ventricular septal defect
Familial isolated congenital asplenia
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Familial progressive cardiac conduction defect
Oculodentodigital dysplasia
Syndactyly type 3
Thyroid hypoplasia
Amyotrophic lateral sclerosis
Pulverulent cataract
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Partial atrioventricular canal
Holt-Oram syndrome
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Familial advanced sleep-phase syndrome
Coppock-like cataract
Nuclear cataract
Posterior polar cataract
Kabuki syndrome
Distal 22q11.2 microdeletion syndrome
Microcephaly-capillary malformation syndrome
Acute fatty liver of pregnancy
Adult-onset autosomal dominant leukodystrophy
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant spastic paraplegia type 13
Autosomal recessive cutis laxa type 2B
Blackfan-Diamond anemia
Catecholaminergic polymorphic ventricular tachycardia
Charcot-Marie-Tooth disease type 1F
Childhood-onset nemaline myopathy
Chronic intestinal pseudoobstruction
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Congenital short bowel syndrome
Congenital stromal corneal dystrophy
Congenital valvular dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Ehlers-Danlos syndrome with periventricular heterotopia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial pancreatic carcinoma
Frontometaphyseal dysplasia
Generalized juvenile polyposis / juvenile polyposis coli
Geroderma osteodysplastica
Glycogen storage disease due to aldolase A deficiency
Gyrate atrophy of choroid and retina
Hereditary hemorrhagic telangiectasia
Hereditary spherocytosis
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
Isolated CoQ-cytochrome C reductase deficiency
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Lissencephaly due to TUBA1A mutation
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Muscle filaminopathy
Myhre syndrome
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
PYCR1-related DeBarsy syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Primary dystonia, DYT4 type
Severe congenital nemaline myopathy
Severe early-onset axonal neuropathy due to NEFL deficiency
Spinocerebellar ataxia type 26
Terminal osseous dysplasia - pigmentary defects
Translocation renal cell carcinoma
Typical nemaline myopathy
Young adult-onset Parkinsonism
17q23.1q23.2 microdeletion syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Spinocerebellar ataxia type 14
X-linked non-syndromic intellectual deficit
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: unknown
External references:
2 OMIM references -
1 MeSH reference: D018636
Gene symbol UniProt reference OMIM reference
GJA1 P17302121014
NKX2-5 P52952600584
Very frequent
- Hypoplastic left heart / ventricle
- Stillbirth / neonatal death

Frequent
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption

Occasional
- Atrial septal defect / interauricular communication
- Maternal diabetes
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Total / partial trisomy / duplication