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8 OMIM references -
8 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Atrial septal defect, ostium secundum type
Non-acquired combined pituitary hormone deficiency with spine abnormalities

ACTC1 LHX3
CITED2
GATA4
GATA6
MYH6
NKX2-5
TBX20
TLL1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Atrial septal defect, ostium secundum type
ACTC1 CITED2 GATA4 GATA6 MYH6 NKX2-5
TBX20 TLL1
Non-acquired combined pituitary hormone deficiency with spine abnormalities
LHX3



Atrial septal defect, ostium secundum type
Non-acquired combined pituitary hormone deficiency with spine abnormalities

Synonym(s):
- ASD, ostium secundum type

Synonym(s):
(no synonyms)

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:
8 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



Atrial septal defect, ostium secundum type

(no data available)