Details of Disease

General Information of Disease (ID: DISEL08B)

Disease Name Kenny-Caffey syndrome
Synonyms Kenny syndrome
Definition A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.
Disease Hierarchy
DISZ93BO: Primordial dwarfism and slender bone disorder
DIS6SVEE: Syndromic disease
DISEL08B: Kenny-Caffey syndrome
Disease Identifiers
MONDO ID
MONDO_0016516
MESH ID
C537021
UMLS CUI
C0265291
MedGen ID
75560
Orphanet ID
2333
SNOMED CT ID
82837002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TBCE OTGBSTKS Limited Genetic Variation [1]
FAM111A OTVLARLG Strong Genetic Variation [2]
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References

1 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22.
2 Contribution of DNA Replication to the FAM111A-Mediated Simian Virus 40 Host Range Phenotype.J Virol. 2018 Dec 10;93(1):e01330-18. doi: 10.1128/JVI.01330-18. Print 2019 Jan 1.