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Renal-hepatic-pancreatic dysplasia

DA: 467




Developmental anomaly information

Definition: 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).



Developmental anomaly parent: (empty)

Topology: Human body

System: Human body

Developmental anomaly category: Dysplasia

Case records MDB104, MDB146, MDB181, MDB213
Links

OMIM: 208540

Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :



Last modified: 2008-12-15 16:08:58 by farideh

Created: 2008-07-25 22:57:50 by farideh



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