Details of Disease

General Information of Disease (ID: DISBSFV8)

• Disease Name: Autosomal dominant Kenny-Caffey syndrome
• Synonyms: Kenny-Caffey syndrome, type 2; dwarfism, cortical thickening of tubular bones and transient hypocalcemia; dwarfism, cortical thickening of tubular bones, and transient hypocalcemia; KCS2; Kenny syndrome; Kenny-Caffey syndrome, autosomal dominant; Kenny-Caffey syndrome type 2
• Definition: An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.
• Disease Hierarchy:
  DISEL08B: Kenny-Caffey syndrome
  DIS3HIWD: Autosomal dominant disease
  DISBSFV8: Autosomal dominant Kenny-Caffey syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007478
  MESH ID: C537020
  UMLS CUI: C4316787
  OMIM ID: 127000
  MedGen ID: 1373312
  Orphanet ID: 93325

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TBCE	OTGBSTKS	Limited	Biomarker	[1]
FAM111A	OTVLARLG	Definitive	Autosomal dominant	[2]

References

• [1] Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet. 2002 Nov;32(3):448-52. doi: 10.1038/ng1012. Epub 2002 Oct 21.
• [2] FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet. 2013 Jun 6;92(6):990-5. doi: 10.1016/j.ajhg.2013.04.020. Epub 2013 May 16.