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LAMA3

laminin subunit alpha 3

HCNC Approved Symbol
LAMA3 (HGNC:6483)
Genomic Coordinates
18:23,689,453 - 23,955,066 (18q11.2)
Synonyms
nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin, LAMNA
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Epidermolysis bullosa, junctional 2A, intermediate
619783AR
Epidermolysis bullosa, junctional 2B, severe
619784AR
Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous
245660AR

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the LAMA3 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Blistering skin
 2 (28.6%)
Oral mucosal blisters
 2 (28.6%)
Cutaneous laxity
 2 (28.6%)
Laryngospasm
 2 (28.6%)
Nail disease
 2 (28.6%)