Renal-hepatic-pancreatic dysplasia

SYD: 22




Renal-hepatic-pancreatic dysplasia

Description: Renal-Hepatic-Pancreatic dysplasia syndrome described by Ivemark in 1959 constitutes a triad pancreatic fibrosis, renal dysplasia and hepatic dysgenesis.It is an autosomal recessive disorder with renal and hepatic failure. However, Bernstein et al. (1987) noted that similar renal, hepatic, and pancreatic abnormalities appear in other syndromes, including trisomy 9, Meckel syndrome (249000), the chondrodysplasias of Jeune (208500) and of Saldino and Noonan (263530), and type II glutaric acidemia (231680). The authors concluded that after exclusion of identifiable syndromes, the remaining cases of renal-hepatic-pancreatic dysplasia do not necessarily constitute a homogeneous group. at least 1 form of renal-hepatic-pancreatic dysplasia (RHPD) is caused by mutation in the NEPHROCYSTIN 3; NPHP3 gene (608002).


Synonyms:
There are no synonyms for this combination.

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Developmental anomalies

Listed in the combination's profile :


There are no developmental anomalies for this combination.

Observed in MDB cases:


There are no developmental anomalies for this combination.
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