Details of Disease

General Information of Disease (ID: DISN3BL7)

Disease Name Autosomal recessive Kenny-Caffey syndrome
Synonyms Kcs; KCS1; Kenny-Caffey syndrome, type 1; Kenny-Caffey syndrome type 1; Kenny-Caffey syndrome, autosomal recessive
Definition
An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISEL08B: Kenny-Caffey syndrome
DISN3BL7: Autosomal recessive Kenny-Caffey syndrome
Disease Identifiers
MONDO ID
MONDO_0009486
MESH ID
C537021
UMLS CUI
C1855648
OMIM ID
244460
MedGen ID
340923
Orphanet ID
93324

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 Moderate Autosomal recessive [1]
FAM111A OTVLARLG Strong Genetic Variation [2]
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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 A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.J Bone Miner Res. 2014 Apr;29(4):992-8. doi: 10.1002/jbmr.2091.