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Jalili syndrome

Also Known As:

Cone-Rod Dystrophy And Amelogenesis Imperfecta

Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Jalili syndrome
2.	Color Vision Defects (Color Blindness)
3.	Amelogenesis Imperfecta
4.	Cone-Rod Dystrophies

Experts

1.	Schorderet, Daniel F: 2 articles (01/2013 - 02/2009)
2.	Funato, Yosuke: 1 article (01/2022)
3.	Hyde, Robert A: 1 article (01/2022)
4.	Kratunova, Evelina: 1 article (01/2022)
5.	McAnany, J Jason: 1 article (01/2022)
6.	Miki, Hiroaki: 1 article (01/2022)
7.	Park, Jason C: 1 article (01/2022)
8.	Daneshmandpour, Yousef: 1 article (01/2019)
9.	Darvish, Hossein: 1 article (01/2019)
10.	Emamalizadeh, Babak: 1 article (01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Jalili syndrome:

1.	MetalsIBA 02/01/2009 - "Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis." 02/01/2009 - "The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization." 11/01/2010 - "To report a new phenotype with additional data on the oculo-dental syndrome of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) caused by mutations on CNNM4, a metal transporter, with linkage at achromatopsia locus 2q11 (Jalili syndrome). " 06/01/2018 - "Whole exome sequencing was then performed for the three affected individuals and identified a homozygous nonsense mutation (c.C1813T, p.R605X) in the cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene located within the 2p14-2q14 Jalili syndrome locus. "
2.	Retinaldehyde (Retinal)IBA 01/01/2022 - "To evaluate retinal function in a family presenting with Jalili syndrome due to a previously unreported variant in CNNM4. " 07/01/2018 - "Jalili syndrome (JS) is an autosomal recessive disease characterized by a combination of cone-rode retinal dytrophy (CRD) and amelogenesis imperfect (AI). " 03/01/2011 - "Interestingly, mutations in the CNNM4 gene have clinical consequences that are limited to retinal function and biomineralization and are considered to be the cause of Jalili syndrome, which consists of autosomal recessive cone-rod dystrophy and amelogenesis imperfecta. "
3.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "Moreover, CNNM proteins are involved in various diseases, and gene mutations in CNNM2 and CNNM4 cause dominant familial hypomagnesemia and Jalili syndrome, respectively. " 01/01/2019 - "In this review we summarise the reported clinical symptoms, CNNM4 gene and protein structure, CNNM4 mutations, attempts to reach a genotype-phenotype correlation, the functional role of CNNM4 mutations, and epidemiological aspects of Jalili syndrome. "
4.	CationsIBA 01/01/2023 - "The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report." 06/01/2018 - "Whole exome sequencing was then performed for the three affected individuals and identified a homozygous nonsense mutation (c.C1813T, p.R605X) in the cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene located within the 2p14-2q14 Jalili syndrome locus. "
5.	Nonsense Codon (Nonsense Mutation)IBA 06/01/2018 - "Whole exome sequencing was then performed for the three affected individuals and identified a homozygous nonsense mutation (c.C1813T, p.R605X) in the cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene located within the 2p14-2q14 Jalili syndrome locus. "
6.	CyclinsIBA 06/01/2018 - "Whole exome sequencing was then performed for the three affected individuals and identified a homozygous nonsense mutation (c.C1813T, p.R605X) in the cyclin and CBS domain divalent metal cation transport mediator 4 (CNNM4) gene located within the 2p14-2q14 Jalili syndrome locus. "
7.	MagnesiumIBA 01/01/2013 - "Thus, we could not disprove the hypothesis that a disrupted magnesium transport is involved in the development of the dental abnormalities observed in Jalili syndrome. "