Details of Disease

General Information of Disease (ID: DISCHOB8)

Disease Name Cataract 44
Synonyms total early-onset cataract; CTRCT44; cataract 44; LSS early-onset non-syndromic cataract; cataract type 44; early-onset non-syndromic cataract caused by mutation in LSS
Definition Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the LSS gene.
Disease Hierarchy
DIS4VPS0: Early-onset non-syndromic cataract
DISCHOB8: Cataract 44
Disease Identifiers
MONDO ID
MONDO_0014673
UMLS CUI
C4225300
OMIM ID
616509
MedGen ID
907487

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
LSS TT7O8ZA moderate Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LSS OT9W2SFH Strong Autosomal recessive [2]
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References

1 Congenital cataract with LSS gene mutations: a new case report.J Pediatr Endocrinol Metab. 2017 Oct 26;30(11):1231-1235. doi: 10.1515/jpem-2017-0101.
2 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.