Details of Disease

General Information of Disease (ID: DISYQZKZ)

Disease Name Hyperostosis cranialis interna
Synonyms HCIN; hyperostosis cranalis interna; hyperostosis cranialis interna; hyperostosis cranialis interna (disease)
Disease Hierarchy
DISYKSRF: Genetic disease
DISYQZKZ: Hyperostosis cranialis interna
Disease Identifiers
MONDO ID
MONDO_0007765
MESH ID
C564168
UMLS CUI
C1840404
OMIM ID
144755
MedGen ID
327093
HPO ID
HP:0005890
Orphanet ID
443098
SNOMED CT ID
1217210001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC39A14 DTZ6IJW Limited Autosomal dominant [1]
SLC39A14 DTZ6IJW Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC39A14 OTGR686L Limited Autosomal dominant [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.
2 Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.PLoS Genet. 2018 Apr 5;14(4):e1007321. doi: 10.1371/journal.pgen.1007321. eCollection 2018 Apr.