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Single ventricular septal defect
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Non-acquired combined pituitary hormone deficiency with spine abnormalities
1 OMIM reference -
1 associated gene
5 signs/symptoms
Single ventricular septal defect
Non-acquired combined pituitary hormone deficiency with spine abnormalities

CITED2
(UniProt - OMIM)
 LHX3
(UniProt - OMIM)
GATA4
(UniProt - OMIM)
GATA5
(UniProt - OMIM)
NKX2-5
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CITED2
(0.65)
LHX3


Citations in the biomedical literature:


Single ventricular septal defect
CITED2 GATA4 GATA5 NKX2-5
Non-acquired combined pituitary hormone deficiency with spine abnormalities
LHX3



Single ventricular septal defect
Non-acquired combined pituitary hormone deficiency with spine abnormalities

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare surgical cardiac disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Non-acquired combined pituitary hormone deficiency with spine abnormalities

Very frequent
- Autosomal recessive inheritance
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Late puberty / hypogonadism / hypogenitalism
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism



Single ventricular septal defect

(no data available)