Details of Disease

General Information of Disease (ID: DIS3FJ55)

Disease Name Jalili syndrome
Synonyms
cone-rod dystrophy and amelogenesis imperfecta; cone-rod dystrophy amelogenesis imperfecta; cone-rod dystrophy with amelogenesis imperfecta; Jalili syndrome; cone rod dystrophy-amelogenesis imperfecta syndrome
Definition Jalili syndrome is characterized by the association of amelogenesis imperfecta (AI) and cone-rod retinal dystrophy (CORD).
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISYKSRF: Genetic disease
DIS3FJ55: Jalili syndrome
Disease Identifiers
MONDO ID
MONDO_0009007
MESH ID
C000596385
UMLS CUI
C3495589
OMIM ID
217080
MedGen ID
501210
Orphanet ID
1873
SNOMED CT ID
707608003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IQCB1 OTYQ28V9 Strong Biomarker [1]
CNNM4 OTUXJRM1 Definitive Autosomal recessive [2]
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References

1 Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.Mol Genet Genomics. 2018 Jun;293(3):699-710. doi: 10.1007/s00438-018-1417-6. Epub 2018 Jan 10.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.