KEGG DISEASE: Ruijs-Aalfs syndrome

DISEASE: Ruijs-Aalfs syndrome

Entry

H02323                      Disease

Name

Ruijs-Aalfs syndrome

Description

Ruijs-Aalfs syndrome is characterized by early onset hepatocellular carcinoma, genomic instability and progeroid features. It has been reported that mutations in SPRTN cause this disease.

Category

Endocrine and metabolic disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H02323  Ruijs-Aalfs syndrome

Gene

SPRTN [HSA:83932] [KO:K24051]

Other DBs

ICD-11:

LD2B

OMIM:

616200

Reference

PMID:25261934

Authors

Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Hogel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmuller J, Nurnberg G, Nurnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C

Title

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

Journal

Nat Genet 46:1239-44 (2014)
DOI:10.1038/ng.3103

Reference

PMID:12503110

Authors

Ruijs MW, van Andel RN, Oshima J, Madan K, Nieuwint AW, Aalfs CM

Title

Atypical progeroid syndrome: an unknown helicase gene defect?

Journal

Am J Med Genet A 116A:295-9 (2003)
DOI:10.1002/ajmg.a.10730

LinkDB

» Japanese version

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