Details of Disease

General Information of Disease (ID: DIS6C0UT)

Disease Name Knobloch syndrome 1
Synonyms
myopia retinal detachment encephalocele; retinal detachment and occipital encephalocele; KNO; Knobloch syndrome type 1; KNOBLOCH syndrome 1; Knobloch syndrome, type 1; retinal detachment-occipital encephalocele syndrome; Knobloch-Layer syndrome; KNO1
Disease Hierarchy
DIS20FJI: Knobloch syndrome
DIS6C0UT: Knobloch syndrome 1
Disease Identifiers
MONDO ID
MONDO_0800167
MESH ID
C537209
UMLS CUI
C4551775
OMIM ID
267750
MedGen ID
1642123

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
COL18A1 TT63DI9 Strong Biomarker [1]
SLC19A1 TT09I7D Strong CausalMutation [2]
COL18A1 TT63DI9 Definitive Autosomal recessive [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
COL18A1 OTJFUH6O Definitive Autosomal recessive [3]
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References

1 Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.Pediatr Neurol. 2017 Nov;76:91-92. doi: 10.1016/j.pediatrneurol.2017.08.003. Epub 2017 Aug 15.
2 Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.Pediatr Neurol. 2014 Dec;51(6):806-813.e8. doi: 10.1016/j.pediatrneurol.2014.08.025. Epub 2014 Sep 4.
3 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.