Details of Disease | DrugMAP

General Information of Disease (ID: DISBRH8M)

Disease Name	Laryngo-onycho-cutaneous syndrome
Synonyms	LARYNGOONYCHOCUTANEOUS syndrome; LOCS; LOC syndrome; laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome; laryngo-onycho-cutaneous syndrome; Shabbir syndrome; logic syndrome
Definition	LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
Disease Hierarchy	DISJRXWU: Junctional epidermolysis bullosa DIS6SVEE: Syndromic disease DISGGAGJ: Respiratory disease DISBRH8M: Laryngo-onycho-cutaneous syndrome
Disease Identifiers	MONDO ID MONDO_0009513 MESH ID C537032 UMLS CUI C1328355 OMIM ID 245660 MedGen ID 272227 Orphanet ID 2407 SNOMED CT ID 722675000

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
LAMA3	OTFME7HT	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.