KEGG   DISEASE: Hepatorenocardiac degenerative fibrosis
Entry
H02748                      Disease                                
Name
Hepatorenocardiac degenerative fibrosis
Description
Hepatorenocardiac degenerative fibrosis (HRCDF) is a rare autosomal recessive disorder characterized by multiorgan fibrosis. Patients present progressive fibrotic liver disease and variable kidney and heart disease. It has been reported that mutations in TULP3 cause this disease. TULP3 encodes a critical adaptor protein for ciliary trafficking.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02748  Hepatorenocardiac degenerative fibrosis
Gene
TULP3 [HSA:7289] [KO:K19600]
Other DBs
ICD-11: LD2F.Y
ICD-10: Q87.8
OMIM: 619902
Reference
PMID:35397207
  Authors
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K, Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grunewald I, Konrad M, Konig J, Schlevogt B, Sayer JA, Bergmann C
  Title
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
  Journal
Am J Hum Genet 109:928-943 (2022)
DOI:10.1016/j.ajhg.2022.03.015
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