Details of Disease | DrugMAP

General Information of Disease (ID: DIS3JPAJ)

Disease Name	Ectopia lentis 2, isolated, autosomal recessive
Synonyms	ectopia lentis, isolated autosomal recessive; autosomal recessive isolated ectopia lentis; autosomal recessive isolated ectopia lentis 2; ectopia lentis, isolated, autosomal recessive; ECTOL2; ectopia lentis 2, isolated, autosomal recessive
Definition	An isolated ectopia lentis that has material basis in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21.
Disease Hierarchy	DISYKSRF: Genetic disease DISJWTN6: Isolated ectopia lentis DIS3JPAJ: Ectopia lentis 2, isolated, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0009152 UMLS CUI C3541474 OMIM ID 225100 MedGen ID 762100

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTSL4	OTBILJMW	Strong	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.