256300.1.1

Country

Lebanon

HPO Terms

Atrial septal defect ; Ascites ; Nephrotic syndrome ; Death in infancy

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Associated Disease
NM_004646.3:c.1317T>G	2	Nephrotic Syndrome, Type 1

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Remarks

While the homozygous mutation led to congenital nephrotic syndrome and early neonatal death, the heterozygous form of the mutation in this family was found to be associated with aortic stenosis.

References

Gharibeh et al, 2015

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
256300.1.2	Lebanon	Nephrotic syndrome ; Death in infancy	Female	Yes	Yes	Sister of 256300.1.1
256300.1.3	Lebanon	Nephrotic syndrome ; Death in infancy	Male	Yes	Yes	Brother of 256300.1.1
256300.1.4	Lebanon	Nephrotic syndrome ; Death in infancy	Male	Yes	Yes	Brother of 256300.1.1
256300.1.5	Lebanon	Coarctation of aorta ; Aortic valve stenosis	Male	Yes	Yes	Brother of 256300.1.1
256300.1.6	Lebanon	Aortic valve stenosis	Male	Yes		Father of 256300.1.1
256300.1.7	Lebanon		Female	Yes		Mother of 256300.1.1