LAMA2, laminin subunit alpha 2, 3908

N. diseases: 167; N. variants: 127
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.010 GeneticVariation disease BEFREE Together, these results demonstrate a role for c.2881G>A and c.4406G>A mutations in LAMA2 and show that these two mutations, especially c.4406G>A, may cause mild cognitive impairment, slight motor retardation, seizures, and severe leukoencephalopathy, which extends the clinical spectrum associated with LAMA2 mutations. 30900984 2020
CUI: C0392553
Disease: Hereditary peripheral neuropathy
Hereditary peripheral neuropathy 		0.010 Biomarker disease BEFREE In this study we show for the first time improvement in motor nerve conduction velocity of LAMA2-CMD dy<sup>2J</sup>/dy<sup>2J</sup> mouse model's hereditary peripheral neuropathy following GA treatment. 31476705 2019
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 Biomarker disease BEFREE MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. 30055037 2018
CUI: C0086588
Disease: Marasmus
Marasmus 		0.010 Biomarker disease BEFREE Herein, we described a Chinese patient with MDC1A who was admitted to hospital 17 days after birth because of marasmus and feeding difficulties. 29487616 2018
CUI: C0206717
Disease: Olfactory Neuroblastoma
Olfactory Neuroblastoma 		0.010 GeneticVariation disease BEFREE Interestingly, one of the remaining tumors has a deletion in LAMA2, bringing the number of ONBs with deletions of genes involved in the development of muscular dystrophies to 13 or 93%. 30575736 2018
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		0.010 Biomarker disease BEFREE MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. 30055037 2018
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		0.010 Biomarker disease BEFREE MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. 30055037 2018
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		0.010 GeneticVariation disease BEFREE Recently, these strategies have also been explored in many other genetic disorders, including dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy; MM, limb-girdle muscular dystrophy type 2B; LGMD2B, and distal myopathy with anterior tibial onset; DMAT), laminin α2 chain (merosin)-deficient congenital muscular dystrophy (MDC1A), sarcoglycanopathy (e.g., limb-girdle muscular dystrophy type 2C; LGMD2C), and Fukuyama congenital muscular dystrophy (FCMD). 30171536 2018
CUI: C0600327
Disease: Toxic Shock Syndrome
Toxic Shock Syndrome 		0.010 Biomarker disease BEFREE Collectively, our data identify LAMA2 as a target of antagonists of staphylococcal superantigens to treat toxic shock syndrome. 29335257 2018
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		0.010 GeneticVariation group BEFREE Recently, these strategies have also been explored in many other genetic disorders, including dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy; MM, limb-girdle muscular dystrophy type 2B; LGMD2B, and distal myopathy with anterior tibial onset; DMAT), laminin α2 chain (merosin)-deficient congenital muscular dystrophy (MDC1A), sarcoglycanopathy (e.g., limb-girdle muscular dystrophy type 2C; LGMD2C), and Fukuyama congenital muscular dystrophy (FCMD). 30171536 2018
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome 		0.010 Biomarker disease BEFREE Several mutations in the LN domains cause LAMA2-deficient muscular dystrophy and LAMB2-deficient Pierson syndrome. 29408412 2018
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.010 Biomarker disease BEFREE MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. 30055037 2018
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		0.010 GeneticVariation disease BEFREE Recently, these strategies have also been explored in many other genetic disorders, including dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy; MM, limb-girdle muscular dystrophy type 2B; LGMD2B, and distal myopathy with anterior tibial onset; DMAT), laminin α2 chain (merosin)-deficient congenital muscular dystrophy (MDC1A), sarcoglycanopathy (e.g., limb-girdle muscular dystrophy type 2C; LGMD2C), and Fukuyama congenital muscular dystrophy (FCMD). 30171536 2018
CUI: C3714602
Disease: Staphylococcal toxic shock syndrome
Staphylococcal toxic shock syndrome 		0.010 Biomarker disease BEFREE Collectively, our data identify LAMA2 as a target of antagonists of staphylococcal superantigens to treat toxic shock syndrome. 29335257 2018
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		0.010 Biomarker disease BEFREE MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. 30055037 2018
CUI: C0002438
Disease: Amebiasis
Amebiasis 		0.010 AlteredExpression disease BEFREE The significant enriched pathway (PI3K-Akt) for up-regulated genes such as COL4A1, COL4A2, EGFR, FGFR1, LAPR6, MYC, PDGFA, SPP1 were selected as well as significant GO term (ear development) for up-regulated genes such as CELSR1, CHRNA9, DDR1, FGFR1, GLI2, LGR5, SOX2, TSHR were selected, while the significant enriched pathway (amebiasis) for down-regulated gene such as COL3A1, COL5A2, LAMA2 were selected as well as significant GO term (RNA polymerase II core promoter proximal region sequence-specific binding (5) such as MEIS2, MEOX2, NR2E1, PITX2, TFAP2B, ZFPM2 were selected. 28952134 2017
CUI: C0013370
Disease: Amebic colitis
Amebic colitis 		0.010 AlteredExpression disease BEFREE The significant enriched pathway (PI3K-Akt) for up-regulated genes such as COL4A1, COL4A2, EGFR, FGFR1, LAPR6, MYC, PDGFA, SPP1 were selected as well as significant GO term (ear development) for up-regulated genes such as CELSR1, CHRNA9, DDR1, FGFR1, GLI2, LGR5, SOX2, TSHR were selected, while the significant enriched pathway (amebiasis) for down-regulated gene such as COL3A1, COL5A2, LAMA2 were selected as well as significant GO term (RNA polymerase II core promoter proximal region sequence-specific binding (5) such as MEIS2, MEOX2, NR2E1, PITX2, TFAP2B, ZFPM2 were selected. 28952134 2017
CUI: C0022681
Disease: Medullary sponge kidney
Medullary sponge kidney 		0.010 Biomarker disease BEFREE Fabris and colleagues report that urinary laminin subunit alpha-2 is a potential diagnostic marker of medullary sponge kidney (MSK) disease by using a label-free quantitative proteomics platform and a clinically compatible enzyme-linked immunosorbent assay. 28087010 2017
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.010 Biomarker disease BEFREE Thus, we have for the first time demonstrated an impairment of the bioenergetic status in human MDC1A and LS muscle cells, which could contribute to cell cycle disturbance and increased apoptosis. 28367954 2017
CUI: C4020790
Disease: Medullary sponge kidney disease
Medullary sponge kidney disease 		0.010 Biomarker disease BEFREE Proteomic-based research strategy identified laminin subunit alpha 2 as a potential urinary-specific biomarker for the medullary sponge kidney disease. 27914711 2017
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 GeneticVariation disease BEFREE This study aimed to evaluate the association of the tagging SNPs (tSNPs) in the EGR1 and LAMA2 genes with high myopia in two independent Han Chinese populations. 26984843 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.010 GeneticVariation disease BEFREE We present a patient with primary partial laminin α2 deficiency due to a homozygous novel LAMA2 missense mutation who developed West syndrome in his first year of life. 25500573 2015
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 GeneticVariation group BEFREE Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy. 24957499 2014
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 AlteredExpression phenotype BEFREE Lower expression levels of LAMA2 correlate with a proliferative signature, and predict poor survival and higher chance of cancer recurrence in HCC patients, suggesting an important role of the extracellular matrix and cell adhesion in tumor progression of a subgroup of HCC patients. 25159915 2014
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.010 Biomarker disease BEFREE We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. 24534542 2014