Details of Disease | DrugMAP

General Information of Disease (ID: DISDRPMA)

Disease Name	Larsen syndrome
Synonyms	autosomal dominant Larsen syndrome; LRS; Larsen syndrome; dominant Larsen syndrome
Definition	Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.
Disease Hierarchy	DISP0R2U: Filamin-related bone disorder DIS3HIWD: Autosomal dominant disease DIS7GG31: Developmental defect during embryogenesis DISDRPMA: Larsen syndrome
Disease Identifiers	MONDO ID MONDO_0007875 UMLS CUI C0175778 OMIM ID 150250 MedGen ID 104500 Orphanet ID 503 SNOMED CT ID 63387002

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
COL7A1	TTBCOKN	Limited	Genetic Variation	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GZF1	OT2GX84M	Strong	Autosomal recessive	[2]
FLNB	OTPCOYL6	Definitive	Mitochondrial	[3]
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References

1	Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus.Am J Hum Genet. 1995 Nov;57(5):1104-13.
2	GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome. Am J Hum Genet. 2017 May 4;100(5):831-836. doi: 10.1016/j.ajhg.2017.04.008.
3	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.