ODCs

Cytoscape Web

Click node...

2 OMIM references -
6 associated genes
14 signs/symptoms

COMMON GENES: 1

Atrial septal defect - atrioventricular conduction defects

1 OMIM reference -
1 associated gene
3 signs/symptoms

Athyreosis

Atrial septal defect - atrioventricular conduction defects

FOXE1	(UniProt - OMIM)		NKX2-5	(UniProt - OMIM)
NKX2-1	(UniProt - OMIM)
NKX2-5	(UniProt - OMIM)
PAX8	(UniProt - OMIM)
SLC26A4	(UniProt - OMIM)
TSHR	(UniProt - OMIM)


COMMON GENES	NKX2-5

Citations in the biomedical literature:

Athyreosis		Atrial septal defect - atrioventricular conduction defects

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: no data available Average age of death: no data available Type of inheritance: autosomal dominant

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

Athyreosis		Atrial septal defect - atrioventricular conduction defects
	Very frequent - Absent / hypotonic / flaccid abdominal wall muscles - Asthenia / fatigue / weakness - Coarse face - Constipation - Ectopic / agenesis / dysgenesis / hypoplastic thyroid - Face / facial anomalies - Hypothyroidy - Hypotonia - Large fontanelle / delayed fontanelle closure - Macroglossia / tongue protrusion / proeminent / hypertrophic - Muscle weakness / flaccidity - Sleep and vigilance disorders Frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism		Very frequent - Autosomal dominant inheritance - Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block - Cardiac septal defect