| H01015 | |
| H number | H01015 |
| Name | Jalili syndrome |
| Description | Jalili syndrome is a combination of recessively inherited cone-rod dystrophy and amelogenesis imperfecta. It is caused by mutations in the CNNM4 gene, encoding a putative metal transporter, that is expressed in the neural retina and in ameloblasts in the developing tooth. |
| Category | Congenital malformation |
| Network | - |
| Gene | CNNM4 [HSA:26504] [KO:K16302] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Cone-rod dystrophy and amelogenesis imperfecta are described in H00481 and H00645, respectively. |
| Other DBs | ICD-11: LA30.6 ICD-10: H35.5 MeSH: C536604 OMIM: 217080 |
| Reference | PMID:19200525 AUTHORS Parry DA, Mighell AJ, El-Sayed W, Shore RC, Jalili IK, Dollfus H, Bloch-Zupan A, Carlos R, Carr IM, Downey LM, Blain KM, Mansfield DC, Shahrabi M, Heidari M, Aref P, Abbasi M, Michaelides M, Moore AT, Kirkham J, Inglehearn CF TITLE Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. JOURNAL Am J Hum Genet 84:266-73 (2009) DOI:10.1016/j.ajhg.2009.01.009 PMID:20706282 AUTHORS Jalili IK TITLE Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs. JOURNAL Eye (Lond) 24:1659-68 (2010) DOI:10.1038/eye.2010.103 |