Details of Disease | DrugMAP

General Information of Disease (ID: DISN9TY8)

Disease Name	LAMA5-related multisystemic syndrome
Definition	A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men. This is an n-of-1 use case where only one patient or family has been described with this disorder.
Disease Hierarchy	DIS3HIWD: Autosomal dominant disease DIS8I9FS: Hereditary disorder of connective tissue DIS77ACK: Rheumatic disorder DISN9TY8: LAMA5-related multisystemic syndrome
Disease Identifiers	MONDO ID MONDO_0033856 UMLS CUI C5681442 MedGen ID 1806009 Orphanet ID 521450 SNOMED CT ID 1217370006

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
LAMA5	OTIIXE4M	Supportive	Autosomal dominant	[1]
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References

1	Identification of the first dominant mutation of LAMA5 gene causing a complex multisystem syndrome due to dysfunction of the extracellular matrix. J Med Genet. 2017 Oct;54(10):710-720. doi: 10.1136/jmedgenet-2017-104555. Epub 2017 Jul 22.