ODCs

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2 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Hypoplastic left heart syndrome

Adult-onset autosomal dominant leukodystrophy

GJA1	(UniProt - OMIM)		LMNB1	(UniProt - OMIM)
NKX2-5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJA1	(0.63)	LMNB1

Citations in the biomedical literature:

Hypoplastic left heart syndrome		Adult-onset autosomal dominant leukodystrophy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare surgical cardiac disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: unknown		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - 1 MeSH reference: D018636		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Total / partial trisomy / duplication

Hypoplastic left heart syndrome		Adult-onset autosomal dominant leukodystrophy
	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		Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Motor deficit / trouble Frequent - Abnormal gait - Constipation - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Hypertonia / spasticity / rigidity / stiffness - Hypotension - Impotence / painful erection / priapism / erection troubles - Nystagmus - Sphincter dysfunction - Tremor Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hearing loss / hypoacusia / deafness - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia