| H00619 | |
| H number | H00619 |
| Name | Kenny-Caffey syndrome |
| Description | Kenny-Caffey syndrome (KCS) is a rare hereditary bone dysplasia characterized by osteosclerosis with medullary stenosis of long bones with hypocalcemia and ocular abnormalities. Recurrent bacterial infections are common in patients with KCS. KCS is mostly inherited as an autosomal dominant trait. Recently, mutations in the FAM111A gene has been identified. Autosomal recessive cases have mutations in TBCE gene that encodes chaperone proteins of tubulins. |
| Category | Congenital malformation |
| Network | - |
| Gene | TBCE [HSA:6905] [KO:K21768] FAM111A [HSA:63901] [KO:K24274] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.D ICD-10: Q87.1 MeSH: C537020 OMIM: 244460 127000 |
| Reference | PMID:9806825 AUTHORS Diaz GA, Khan KT, Gelb BD TITLE The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. JOURNAL Genomics 54:13-8 (1998) DOI:10.1006/geno.1998.5530 PMID:12389028 AUTHORS Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD TITLE Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. JOURNAL Nat Genet 32:448-52 (2002) DOI:10.1038/ng1012 PMID:23684011 AUTHORS Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A TITLE FAM111A mutations result in hypoparathyroidism and impaired skeletal development. JOURNAL Am J Hum Genet 92:990-5 (2013) DOI:10.1016/j.ajhg.2013.04.020 |