Details of Disease

General Information of Disease (ID: DISSFYUP)

Disease Name Nance-Horan syndrome
Synonyms
cataract, X-linked, with Hutchinsonian teeth; Mesiodens cataract syndrome; Mesiodens-cataract syndrome; cataract dental syndrome; cataract-dental syndrome; cataract X-linked with Hutchinsonian teeth; NHS; Nance-Horan syndrome; nance-horan syndrome, X-linked dominant
Definition A syndrome characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISYKSRF: Genetic disease
DISSFYUP: Nance-Horan syndrome
Disease Identifiers
MONDO ID
MONDO_0010545
MESH ID
C538336
UMLS CUI
C0796085
OMIM ID
302350
MedGen ID
208665
Orphanet ID
627
SNOMED CT ID
445257004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ITGB6 TTKQSXZ Strong Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NHSL1 OTLEZ2C3 Limited Biomarker [2]
RBBP7 OTLB56HX Limited Genetic Variation [3]
RAI2 OTR8LX4J Strong Genetic Variation [3]
NHS OTKE8QAT Definitive X-linked [4]
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References

1 ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. Hum Mol Genet. 2014 Apr 15;23(8):2157-63. doi: 10.1093/hmg/ddt611. Epub 2013 Dec 4.
2 Identification of the gene for Nance-Horan syndrome (NHS).J Med Genet. 2004 Oct;41(10):768-71. doi: 10.1136/jmg.2004.022517.
3 Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).Ophthalmic Genet. 2004 Jun;25(2):121-31. doi: 10.1080/13816810490514360.
4 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.