Kenny-Caffey syndrome type 2
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
KCS2
|
| gptkbp:differentialDiagnosis |
Kenny-Caffey syndrome type 1
|
| gptkbp:firstDescribed |
1966
|
| https://www.w3.org/2000/01/rdf-schema#label |
Kenny-Caffey syndrome type 2
|
| gptkbp:ICD-10_code |
Q87.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
FAM111A gene
|
| gptkbp:namedAfter |
George E. Kenny
James A. Caffey |
| gptkbp:OMIM |
127000
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
gptkb:hypoparathyroidism
short stature dental anomalies hypocalcemia cortical thickening of long bones eye anomalies medullary stenosis of long bones |
| gptkbp:treatment |
calcium supplementation
vitamin D supplementation |
| gptkbp:bfsParent |
gptkb:ENSG00000177885
|
| gptkbp:bfsLayer |
7
|