Details of Disease

General Information of Disease (ID: DISD336E)

Disease Name Progeroid features-hepatocellular carcinoma predisposition syndrome
Synonyms RUIJS-Aalfs syndrome; RJALS; Ruijs-Aalfs syndrome
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISGXLG5: Hereditary neoplastic syndrome
DISD336E: Progeroid features-hepatocellular carcinoma predisposition syndrome
Disease Identifiers
MONDO ID
MONDO_0014527
UMLS CUI
C4015461
OMIM ID
616200
MedGen ID
863898
Orphanet ID
435953
SNOMED CT ID
1216939003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SPRTN OT01D5CE Moderate Autosomal recessive [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.