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LMNA

lamin A/C

HCNC Approved Symbol
LMNA (HGNC:6636)
Genomic Coordinates
1:156,082,573 - 156,140,081 (1q22)
Synonyms
HGPS, MADA, LMN1, CMD1A, LGMD1B, PRO1, LMNL1
Disease Associations
This gene is associated with the following 11 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Cardiomyopathy, dilated, 1A
115200AD
Charcot-Marie-Tooth disease, type 2B1
605588AR
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
181350AD
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
616516AR
Heart-hand syndrome, Slovenian type
610140AD
Hutchinson-Gilford progeria
176670AD
Lipodystrophy, familial partial, type 2
151660AD
Malouf syndrome
212112AD
Mandibuloacral dysplasia
248370AR
Muscular dystrophy, congenital
613205AD
Restrictive dermopathy 2
619793AD

Diagnosed Cases

42Patients

In total, 42 patients were diagnosed with a variant in the LMNA gene.

Frequently observed phenotypes

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

Dilated cardiomyopathy
 8 (19.0%)
Myopathy
 
6 (14.3%)
Heart failure
 
4 (9.5%)
Hypothyroidism
 
4 (9.5%)
Sick sinus syndrome
 
4 (9.5%)