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Gene: DCDC2

Green List (high evidence)

Nephronophthisis 19 - three unrelated patients with nephronophthisis, all had truncating DCDC2 mutations. One developed hepatic fibrosis at age 11 months and end-stage renal disease due to nephronophthisis at age 14 years. Also had hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, focal bile ductal proliferation, and cholestasis. He died at 16 years of age from esophageal bleeding. An unrelated patient had hepatosplenomegaly, ductal plate malformation, hepatic fibrosis, and mild cholestasis; he underwent liver transplantation at age 2 years, and had no renal involvement at age 9 years. The third patient presented at age 13 with liver fibrosis, chronic liver failure, and end-stage renal disease secondary to presumed nephronophthisis.

Sclerosing cholangitis, neonatal - severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Seen in >8 unrelated families. Many required liver transplant in childhood.

Created: 31 Oct 2024, 6:10 a.m. | Last Modified: 31 Oct 2024, 6:10 a.m.

Panel Version: 1.545

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 19, MIM #616217; Sclerosing cholangitis, neonatal, MIM #617394

Publications

• PMID: 25557784
• 31821705
• 27319779
• 27469900
• 36938759
• 34155636