LAMA2 - laminin subunit alpha 2 Gene

Also Known as LAMM; MDC1A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3908

About LAMA2

Cytogenetic location: 6q22.33 Genomic coordinates (GRCh38): 6:128,883,138-129,516,566 (from NCBI)

This gene has 20 transcripts (splice variants), 239 orthologues, 27 paralogues and is associated with 4 phenotypes. Biased expression in placenta (RPKM 30.7), ovary (RPKM 13.2) and 11 other tissues.

Summary

Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with Other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each Other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

LAMA2 Products (4)

mRNA Protein Name
NM_000426.4 NP_000417.3 laminin subunit alpha-2 isoform a precursor
NM_001079823.2 NP_001073291.2 laminin subunit alpha-2 isoform b precursor
NM_000426.4 NP_000417.3 laminin subunit alpha-2 isoform a precursor
NM_001079823.2 NP_001073291.2 laminin subunit alpha-2 isoform b precursor
Cellular Component GO Annotation Evidence References Source
located in basement membrane IDA
IDA: Inferred from direct assay
2099832 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LAMA2 Protein Structure

Laminin_N

Laminin_N: Laminin N-terminal (Domain VI) (39 - 285)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (287 - 332)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (344 - 401)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (414 - 465)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (469 - 515)

Laminin_B

Laminin_B: Laminin B (Domain IV) (583 - 722)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (723 - 744)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (757 - 804)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (807 - 862)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (865 - 915)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (918 - 964)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (967 - 1011)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1014 - 1054)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1060 - 1108)

Laminin_B

Laminin_B: Laminin B (Domain IV) (1234 - 1369)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1379 - 1406)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1420 - 1466)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1469 - 1524)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1527 - 1567)

Laminin_I

Laminin_I: Laminin Domain I (1588 - 1852)

Laminin_II

Laminin_II: Laminin Domain II (2038 - 2172)

Laminin_G_1

Laminin_G_1: Laminin G domain (2174 - 2313)

Laminin_G_1

Laminin_G_1: Laminin G domain (2368 - 2507)

Laminin_G_1

Laminin_G_1: Laminin G domain (2554 - 2695)

Laminin_G_1

Laminin_G_1: Laminin G domain (2793 - 2920)

Laminin_G_2

Laminin_G_2: Laminin G domain (2968 - 3094)

  • 0
  • 500
  • 1000
  • 1500
  • 2000
  • 2500
  • 3122 a.a.
Protein Preferred Names Protein Names

laminin subunit alpha-2

  • laminin M chain

Related Diseases

Diseases Alias
Muscular Dystrophy, Congenital Merosin-Deficient, 1a
  • MDC1A

  • Lama2-Related Muscular Dystrophy

  • Atrophie Blanche

  • Muscular Dystrophy, Congenital Merosin-Deficient

  • Congenital Merosin-Deficient Muscular Dystrophy 1a

  • Merosin-Negative Congenital Muscular Dystrophy

  • Muscular Dystrophy White Matter Spongiosis

  • Merosin Deficient Congenital Muscular Dystrophy

  • Muscular Dystrophy Congenital, Merosin Negative

  • Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient

  • Cmd1a

  • Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency

  • Congenital Muscular Dystrophy Type 1a

  • Laminin Alpha-2 Deficiency

  • Merosin-Deficient Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital, Merosin-Deficient

  • Lama2 Md

  • Laminin Alpha 2 Deficiency

  • Laminin Alpha-2 Deficient Muscular Dystrophy

  • Merosin-Deficient Muscular Dystrophy

  • Muscular Dystrophy Due To Lama2 Deficiency

  • Merosin-Deficient Congenital Muscular Dystrophy 1a

  • Cardiomyopathy, Familial Idiopathic

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
  • LGMDR23

  • Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 23

Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
  • Cmd1a

  • Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency

  • Congenital Muscular Dystrophy Type 1a

  • Mdc1a

  • Merosin-Negative Congenital Muscular Dystrophy

Muscular Dystrophy
  • Muscular Dystrophies

  • Congenital Md

  • Congenital Muscular Dystrophy

  • Cmd

  • Mdc

  • Dystrophy, Muscular

  • Gower'S Muscular Dystrophy

  • Progressive Musclular Dystrophy

  • Pseudohypertrophic Atrophy

  • Pseudohypertrophic Muscle Paralysis

  • Pseudohypertrophic Muscular Atrophy

  • Pseudohypertrophic Muscular Dystrophy

  • Pseudohypertrophic Paralysis

  • Pseudomuscular Hypertrophy

Muscular Dystrophy, Congenital, Lmna-Related
  • Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Due To Lmna Mutation

  • MDCL

  • L-Cmd

  • Lmna-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy, Congenital

  • Congenital Muscular Dystrophy Lmna-Related

  • Lmna-Related Cmd

  • Cmd

  • Mdc

  • Muscular Dystrophy Congenital Lmna-Related

  • Dystrophy, Muscular, Congenital, Lmna-Related

  • Dystrophy, Muscular, Congenital

  • Hereditary Muscular Dystrophy

  • Congenital Hereditary Muscular Dystrophy

  • Congenital Progressive Muscular Dystrophy

  • Hereditary Progressive Muscular Dystrophy

Isolated Elevated Serum Creatine Phosphokinase Levels
  • Elevated Serum Cpk

  • Idiopathic Hyperckemia

  • Isolated Hyperckemia

  • Elevated Serum Creatine Phosphokinase

  • H-Ck

  • Idiopathic Persistent Elevation Of Serum Creatine Kinase

Alcohol Dependence
  • Alcoholism

  • Alcohol Dependence, Susceptibility To

  • Alcohol Dependence, Protection Against

  • Aerodigestive Tract Cancer, Squamous Cell, Alcohol-Related, Protection Against

  • Alcoholism, Susceptibility To

  • Alcoholic Intoxication, Chronic

  • Pharyngeal Neoplasms

  • Chronic Alcoholism

  • Dipsomania

  • Alcohol Addiction

  • Ethanol Dependence

  • Chronic Ethanolism

  • Chronic Alcoholic Disease Nos

  • Alcoholic Disease Nos

  • Alcoholic

Creatine Phosphokinase, Elevated Serum
  • Hyperckemia, Idiopathic

  • Cpk, Elevated Serum

  • Hyperckmia

  • HYPCK

Microcephaly
  • Microencephaly

  • Microcephalus

  • Microcephalic

  • Nanocephaly

  • Congenital Microcephaly

  • Brain Hypoplasia

  • Brain Nondevelopment

  • Cephalic Hypoplasia

  • Undeveloped Cerebrum

  • Undeveloped Brain

  • Micrencephalon

  • Micrencephaly

Limb-Girdle Muscular Dystrophy
  • Lgmd

  • Limb Girdle Muscular Dystrophy

  • Muscular Dystrophies, Limb-Girdle

  • Erb'S Muscular Dystrophy

  • Leyden-Mbius Muscular Dystrophy

  • Limb-Girdle Syndrome

  • Myopathic Limb-Girdle Syndrome

  • Limb Girdle

  • Muscular Dystrophy Limb-Girdle

  • Dystrophy, Muscular, Limb-Girdle

  • Lgmd - [Limb-Girdle Muscular Dystrophy]

  • Limb Girdle Muscle Dystrophy

  • Limb-Girdle Myopathy

Muscular Dystrophy-Dystroglycanopathy , Type A, 4
  • Fukuyama Congenital Muscular Dystrophy

  • Fcmd

  • MDDGA4

  • Fukuyama Type Congenital Muscular Dystrophy

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related

  • Cerebromuscular Dystrophy, Fukuyama Type

  • Fukuyama Cmd

  • Fukuyama Muscular Dystrophy

  • Fukuyama Syndrome

  • Muscular Dystrophy, Congenital Progressive, With Mental Retardation

  • Muscular Dystrophy, Congenital, Fukuyama Type

  • Muscular Dystrophy, Congenital, With Central Nervous System Involvement

  • Polymicrogyria With Muscular Dystrophy

  • Congenital Muscular Dystrophy, Fukuyama Type

  • Fktn-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4

  • Cerebromuscular Dystrophy Fukuyama Type

  • Congenital Muscular Dystrophy Fukuyama Type

  • Micropolygyria With Muscular Dystrophy

  • Muscle-Eye-Brain Disease Fktn-Related

  • Walker-Warburg Syndrome Fktn-Related

Muscular Dystrophy-Dystroglycanopathy , Type B, 5
  • Mdc1c

  • Muscular Dystrophy-Dystroglycanopathy Type B5

  • MDDGB5

  • Muscular Dystrophy, Congenital, 1c

  • Muscular Dystrophy, Congenital, Fkrp-Related

  • Congenital Muscular Dystrophy 1c

  • Fkrp-Related Congenital Muscular Dystrophy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5

  • Muscular Dystrophy Congenital Type 1c

  • Muscular Dystrophy Fkrp-Related

Walker-Warburg Syndrome
  • Hard Syndrome

  • Walker-Warburg Congenital Muscular Dystrophy

  • Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

  • Cod-Md Syndrome

  • Chemke Syndrome

  • Hydrocephalus, Agyria And Retinal Dysplasia

  • Cerebroocular Dysgenesis

  • Cerebroocular Dysplasia Muscular Dystrophy Syndrome

  • Hard +/- E Syndrome

  • Pagon Syndrome

  • Warburg Syndrome

  • Hydrocephalus, Agyria, And Retinal Dysplasia

  • Mddga

  • Muscular Dystrophy-Dystroglycanopathy , Type A

  • Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

  • Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

  • Wws

  • Dystrophy, Muscular, Dystroglycanopathy, Type A

Muscular Dystrophy-Dystroglycanopathy , Type C, 5
  • Lgmd2i

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i

  • MDDGC5

  • Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency

  • Limb-Girdle Muscular Dystrophy Type 2i

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9

  • Lgmdr9

  • Muscular Dystrophy, Limb-Girdle, Type 2i

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related

  • Fkrp-Related Limb-Girdle Muscular Dystrophy R9

  • Fkrp-Related Lgmd R9

  • Lgmd Due To Fkrp Deficiency

  • Lgmd Type 2i

  • Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related

  • Muscular Dystrophy Limb-Girdle Type 2i

  • Muscular Dystrophy-Dystroglycanopathy Type C 5

  • Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5

  • Dystrophy, Muscular, Limb-Girdle, Type 2i

Muscular Dystrophy, Becker Type
  • Becker Muscular Dystrophy

  • BMD

  • Benign Pseudohypertrophic Muscular Dystrophy

  • Benign Congenital Myopathy

  • Becker Dystrophinopathy

  • Becker'S Muscular Dystrophy

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type

  • Muscular Dystrophy Becker

  • Dystrophy, Muscular, Becker Type

  • Dystrophinopathy

  • Becker Dystrophy

  • Becker Type Dystrophy

  • Bmd - [Becker Muscular Dystrophy]

Hypotonia
Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Muscular Dystrophy, Congenital, 1b
  • MDC1B

  • Congenital Muscular Dystrophy 1b

  • Cmd1b

  • Congenital Muscular Dystrophy Type 1b

  • Familial Dilated Cardiomyopathy

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Myopathy
  • Muscular Diseases

  • Myopathies

Autosomal Recessive Limb-Girdle Muscular Dystrophy
  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Emery-Dreifuss Muscular Dystrophy
  • Edmd

  • Emery-Dreifuss Syndrome

  • Muscular Dystrophy, Emery-Dreifuss

  • Humeroperoneal Neuromuscular Disease

  • Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures

  • Scapuloperoneal Syndrome, X-Linked

  • Benign Scapuloperoneal Muscular Dystrophy With Early Contractures

  • Muscular Dystrophy, Emery-Dreifuss Type

  • Muscular Dystrophy Emery-Dreifuss

  • Dystrophy, Muscular, Emery-Dreifuss

  • Emd - [Emery-Dreifuss Muscular Dystrophy]

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

Medullary Sponge Kidney
  • Cacchi-Ricci Disease

  • Msk

  • Precalicial Canalicular Ectasia

  • Cacchi Ricci Disease

  • Cacchi-Ricci Syndrome

  • Cystic Dilatation Of Renal Collecting Tubes

  • Precalyceal Canalicular Ectasia

  • Sponge Kidney

  • Congenital Cystic Kidney Disease

  • Msk - [Medullary Sponge Kidney]

  • Sponge Kidney Nos

Respiratory Failure
  • Acute Respiratory Failure

  • Chronic Respiratory Failure

  • Respiratory Insufficiency

  • Acute-On-Chronic Respiratory Failure

  • Respiratory Disease

  • Acute And Chronic Respiratory Failure

  • Respiratory Insufficiency/Failure

  • Chronic Respiratory Disease

  • Pulmonary Valve Insufficiency

  • Chronic Disease Of Respiratory System

  • Respiration Disorders

  • Respiratory Tract Diseases

  • Lung Failure Nos

  • Pulmonary Failure

  • Arf - [Acute Respiratory Failure]

  • Acute Respiratory Insufficiency

  • Acute Pulmonary Insufficiency

  • Acute Respiration Failure

  • Chronic Respiration Failure

Muscle Eye Brain Disease
  • Muscle-Eye-Brain Disease

  • Muscle-Eye-Brain Syndrome

  • Meb

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3

  • Meb Syndrome

  • Santavuori Congenital Muscular Dystrophy

Congenital Muscular Dystrophy-Dystroglycanopathy Type A10
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A10

  • Mddga10

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Tmem5-Related

Malignant Hyperthermia
  • Anesthesia Related Hyperthermia

  • Malignant Hyperpyrexia Due To Anesthesia

  • Hyperpyrexia, Malignant

  • Hyperthermia, Malignant

  • Malignant Hyperpyrexia

  • Mhs

  • Malignant Fever

Bethlem Myopathy 1
  • Bethlem Myopathy

  • Myopathy, Benign Congenital, With Contractures

  • Muscular Dystrophy, Benign Congenital

  • BTHLM1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5

  • Lgmdd5

  • Benign Congenital Muscular Dystrophy

  • Benign Autosomal Dominant Myopathy

  • Myopathy, Bethlem

  • Myopathy, Bethlem, Type 1

Childhood Infratentorial Ependymoma
  • Pediatric Infratentorial Ependymoma

Ullrich Congenital Muscular Dystrophy 1
  • Ullrich Congenital Muscular Dystrophy

  • Ullrich Disease

  • Ucmd

  • Ullrich Scleroatonic Muscular Dystrophy

  • Scleroatonic Muscular Dystrophy

  • UCMD1

  • Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22

  • Lgmdr22

  • Muscular Dystrophy, Scleroatonic

  • Late Onset Scleroatonic Familial Myopathy

  • Congenital Muscular Dystrophy, Ullrich Type

Neuropathy
  • Peripheral Neuropathy

  • Peripheral Neuropathies

Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
  • NPHS5

  • Nephrotic Syndrome Type 5

  • Nephrotic Syndrome Type 5, With Or Without Ocular Abnormalities

  • Nephrotic Syndrome 5 With Or Without Ocular Abnormalities

  • Nephrotic Syndrome, Type 5, With/Without Ocular Abnormalities

Congenital Muscular Dystrophy-Dystroglycanopathy A14
  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14

  • Mddga14

  • Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related

  • Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14

Cardiomyopathy, Dilated, 1d
  • Dilated Cardiomyopathy 1d

  • CMD1D

  • Left Ventricular Noncompaction 6, Included

  • Lvnc6, Included

  • Left Ventricular Noncompaction 6

  • Cardiomyopathy, Dilated 1d

Congenital Muscular Dystrophy-Dystroglycanopathy Type A
  • Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies

  • Mddga

  • Klissencephaly Type 2 With Muscular And Ocular Involvement

  • Lissencephaly Type 2 With Muscular And Ocular Involvement

Muscular Dystrophy, Duchenne Type
  • Duchenne Muscular Dystrophy

  • DMD

  • Muscular Dystrophy, Duchenne

  • Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type

  • Severe Dystrophinopathy, Duchenne Type

  • Muscular Dystrophy Duchenne

  • Dystrophy, Muscular, Duchenne Type

  • Benign Duchenne Muscular Dystrophy

  • Duchenne Motor Neuron Disease

  • Duchenne Type Dystrophy

  • Duchenne-Griesinger Disease

Rigid Spine Muscular Dystrophy 1
  • Rigid Spine Syndrome

  • RSMD1

  • Rss

  • Mdrs1

  • Eichsfeld Type Congenital Muscular Dystrophy

  • Desmin-Related Myopathy With Mallory Bodies

  • Classic Multiminicore Myopathy

  • Sepn1-Related Myopathy

  • Multicore Myopathy, Severe Classic Form

  • Minicore Myopathy, Severe Classic Form

  • Multiminicore Disease, Severe Classic Form

  • Muscular Dystrophy, Rigid Spine, 1

  • Classic Mmd

  • Classic Multiminicore Disease

  • Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

  • Desmin-Related Myopathy With Mallory Body-Like Inclusions

  • Early-Onset Desmin-Related Myopathy

  • Myopathy, Sepn1-Related

  • Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

  • Muscular Dystrophy, Congenital, Eichsfeld Type

  • Severe Classic Form Minicore Myopathy

  • Severe Classic Form Multicore Myopathy

  • Severe Classic Form Multiminicore Disease

  • Desmin-Related Myopathies With Mallory Bodies

  • Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

  • Rigid Spine Muscular Dystrophy-1

  • Rigid Spine Congenital Muscular Dystrophy

  • Congenital Muscular Dystrophy Eichsfeld Type

  • Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

  • Minicore Myopathy Severe Classic Form

  • Multicore Myopathy Severe Classic Form

  • Multiminicore Disease Severe Classic Form

  • Dystrophy, Muscular, Rigid Spine, Type 1

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
  • Lgmd2b

  • Muscular Dystrophy, Limb-Girdle, Type 2b

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

  • Beta-Sarcoglycanopathy

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

  • Muscular Dystrophy, Limb-Girdle, Type 3

  • Lgmd3

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

  • LGMDR2

  • Muscular Dystrophy, Limb-Girdle, Type 2s

  • Limb-Girdle Muscular Dystrophy Type 2b

  • Lgmd2e

  • Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2e

  • Lgmd2s

  • Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

  • Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

  • Lgmd2y

  • Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

  • Muscular Dystrophy, Limb-Girdle, Type 2y

  • Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

  • Dysferlin-Related Lgmd R2

  • Lgmd Due To Dysferlin Deficiency

  • Lgmd Type 2b

  • Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

  • Limb-Girdle Muscular Dystrophy 2b

  • Limb-Girdle Muscular Dystrophy, Type 2b

  • Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

  • Dystrophy, Muscular, Limb-Girdle, Type 2b

  • Limb-Girdle Muscular Dystrophy, Type 2e

Miyoshi Muscular Dystrophy
  • Distal Myopathy

  • Distal Muscular Dystrophy

  • Miyoshi Myopathy

  • Distal Myopathies

  • Dystrophy, Muscular, Miyoshi

  • Myopathy, Distal

  • Distal Muscular Dystrophies

Muscular Dystrophy-Dystroglycanopathy , Type B, 1
  • MDDGB1

  • Muscular Dystrophy-Dystroglycanopathy , Type B1

  • Muscular Dystrophy, Congenital, Pomt1-Related

  • Muscular Dystrophy-Dystroglycanopathy Type B1

  • Cmd Due To Dystroglycanopathy

  • Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1

  • Muscular Dystrophy Congenital Pomt1-Related

  • Muscular Dystrophy-Dystroglycanopathy

  • Dystrophy, Muscular, Dystroglycanopathy , Type B1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
  • Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1

  • Deficiency Of Sarcoglycan Gamma

  • Dmda1

  • Gamma-Sarcoglycanopathy

  • Lgmd2c

  • Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency

  • Maghrebian Myopathy

  • Muscular Dystrophy, Limb-Girdle, Type 2c

  • Scarmd

  • Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type

Arrhythmogenic Right Ventricular Cardiomyopathy
  • Arrhythmogenic Right Ventricular Dysplasia

  • Arvc

  • Arvd

  • Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

  • Arvc Cardiomyopathy

  • Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia

  • Arvd/C

  • Right Ventricular Dysplasia, Arrhythmogenic

  • Ventricular Dysplasia, Right, Arrhythmogenic

  • Cardiomyopathy, Ventricular, Right, Arrhythmogenic

  • Dysplasia, Arrhythmogenic Right Ventricular

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
  • Alpha-Sarcoglycanopathy

  • Dmda2

  • Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2

  • Lgmd2d

  • Muscular Dystrophy, Limb-Girdle, Type 2d

  • Primary Adhalinopathy

Muscle Tissue Disease
American Histoplasmosis
  • Infection By Histoplasma Capsulatum

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
  • Leyden-Moebius Muscular Dystrophy

  • Lgmd2a

  • Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency

  • Muscular Dystrophy, Limb-Girdle, Type 2a

  • Pelvofemoral Muscular Dystrophy

  • Primary Calpainopathy

Physical Disorder
  • Physical Illness

Myopathy With Extrapyramidal Signs
  • Proximal Myopathy With Extrapyramidal Signs

  • MPXPS

  • Myopathy, With Extrapyramidal Signs

Childhood Angiosarcoma
  • Paediatric Angiosarcoma

  • Paediatric Hemangiosarcoma

  • Pediatric Angiosarcoma

  • Pediatric Hemangiosarcoma

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
  • Lgmd2b

  • Lgmd3

  • Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

  • Limb-Girdle Muscular Dystrophy Type 3

  • Muscular Dystrophy, Limb-Girdle, Type 2b

Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Muscular Dystrophy, Congenital, Megaconial Type
  • Megaconial Type Congenital Muscular Dystrophy

  • Congenital Megaconial Myopathy

  • Congenital Muscular Dystrophy Due To Phosphatidylcholine Biosynthesis Defect

  • Congenital Muscular Dystrophy With Mitochondrial Structural Abnormalities

  • Megaconial Congenital Muscular Dystrophy

  • MDCMC

  • Muscular Dystrophy, Congenital, With Mitochondrial Structural Abnormalities

  • Megaconial Congénital Muscular Dystrophy

  • Dystrophy, Muscular, Congenital, Megaconial Type

Muscular Disease
Canavan Disease
  • Aspartoacylase Deficiency

  • Aminoacylase 2 Deficiency

  • Spongy Degeneration Of Central Nervous System

  • Aspa Deficiency

  • Acy2 Deficiency

  • Canavan-Van Bogaert-Bertrand Disease

  • Mild Canavan Disease

  • Asp Deficiency

  • Spongy Degeneration Of The Central Nervous System

  • Severe Canavan Disease

  • Von Bogaert-Bertrand Disease

  • Canavan'S Disease

  • Spongy Degeneration Of The Brain

  • Juvenile Canavan Disease

  • Infantile Canavan Disease

  • Neonatal Canavan Disease

  • CAND

  • Disease, Canavan

  • Canavan Disease, Juvenile

  • Canavan Disease, Infantile

  • Canavan Disease, Neonatal

Batten-Turner Congenital Myopathy
  • Congenital Myopathy

  • Batten Turner Congenital Myopathy

  • Myopathy Congenital

  • Myopathy, Congenital

  • Myotonia Congenita

  • Benign Congenital Myopathy

Facioscapulohumeral Muscular Dystrophy 1
  • Facioscapulohumeral Muscular Dystrophy

  • Fshd

  • Landouzy-Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Facioscapulohumeral

  • FSHD1

  • Fshd1a

  • Muscular Dystrophy, Facioscapulohumeral, Type 1a

  • Facioscapulohumeral Muscular Dystrophy Type 1a

  • Fsh Muscular Dystrophy

  • Facioscapulohumeral Muscular Dystrophy 1a

  • Facioscapulohumeral Atrophy

  • Facioscapulohumeral Myopathy

  • Muscular Dystrophy, Facioscapulohumeral, Type 1

  • Facioscapulohumeral Muscular Dystrophy Type 1

  • Landouzy Dejerine Muscular Dystrophy

  • Muscular Dystrophy, Landouzy-Dejerine

  • Fshmd1a

  • Facio-Scapulo-Humeral Dystrophy

  • Facioscapulohumeral Type Progressive Muscular Dystrophy

  • Facioscapuloperoneal Muscular Dystrophy

  • Facioscapulohumeral Dystrophy

  • Fsh Dystrophy

  • Landouzy-Dejerine Dystrophy

  • Landouzy-Dejerine Myopathy

  • Fmd

  • Facioscapulohumeral Muscular Dystrophy-1a

  • Muscular Dystrophy Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral

  • Dystrophy, Muscular, Facioscapulohumeral, Type 1

  • Landouzy-Dejerine Disease

  • Landouzy-Déjerine Atrophy

  • Facioscapulohumeral Muscle Dystrophy

  • Fmd - [Facioscapulohumeral Muscular Dystrophy]

  • Fsh - [Facioscapulohumeral Muscular Dystrophy]

  • Fshd - [Facioscapulohumeral Muscular Dystrophy]

  • Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

  • Landouzy-Déjérine Muscular Dystrophy

Childhood Ependymoma
Tibial Muscular Dystrophy
  • Tmd

  • Udd Myopathy

  • Distal Titinopathy

  • Finnish Tibial Muscular Dystrophy

  • Tardive Tibial Muscular Dystrophy

  • Udd Type Distal Myopathy

  • Udd Distal Myopathy

  • Udd-Markesbery Muscular Dystrophy

  • Distal Myopathy, Udd Type

  • Distal Myopathies

  • Tibial Muscular Dystrophy, Tardive

Myopathy, Myofibrillar, 9, With Early Respiratory Failure
  • Hereditary Myopathy With Early Respiratory Failure

  • Hmerf

  • Myopathy, Proximal, With Early Respiratory Muscle Involvement

  • Edstrom Myopathy

  • Mfm-Titinopathy

  • MFM9

  • Mprm

  • Hereditary Inclusion Body Myopathy With Early Respiratory Failure

  • Hibm-Erf

  • Myofibrillar Myopathy-Titinopathy

  • Myofibrillar Myopathy With Early Respiratory Failure

  • Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

  • Myofibrillar Myopathy 9

  • Myofibrillar Myopathy 9 With Early Respiratory Failure

  • Autosomal Dominant Distal Myopathy With Early Respiratory Failure

  • Proximal Myopathy With Early Respiratory Muscle Involvement

  • Hereditary Proximal Myopathy With Early Respiratory Failure

  • Admerf

  • Edström Myopathy

  • Hmerf-Erf

Glycogen Storage Disease Ii
  • Pompe Disease

  • Glycogen Storage Disease Type Ii

  • Acid Maltase Deficiency

  • Gsd Ii

  • Gaa Deficiency

  • Alpha-1,4-Glucosidase Deficiency

  • Glycogenosis Type Ii

  • GSD2

  • Acid Alpha-Glucosidase Deficiency

  • Amd

  • Glycogen Storage Disease, Type Ii

  • Pompe'S Disease

  • Glycogen Storage Disease Type 2

  • Cardiomegalia Glycogenica Diffusa

  • Acid Maltase Deficiency Disease

  • Deficiency Of Alpha-Glucosidase

  • Glycogenosis, Generalized, Cardiac Form

  • Deficiency Of Glucoamylase

  • Deficiency Of Maltase

  • Generalized Glycogenosis

  • Glycogenosis, Type 2

  • Lysosomal Alpha-1,4-Glucosidase Deficiency

  • Glucosidase Acid-1,4-Alpha Deficiency

  • Aglucosidase Alfa

  • Deficiency Of Lysosomal Alpha-Glucosidase

  • Glycogen Storage Disease Due To Acid Maltase Deficiency

  • Alpha-1,4-Glucosidase Acid Deficiency

  • Gsd Due To Acid Maltase Deficiency

  • Gsd Type 2

  • Gsd Type Ii

  • Glycogenosis Due To Acid Maltase Deficiency

  • Glycogenosis Type 2

  • Glycogen Storage Disease 2

  • Cardiomegalia Glycogenica

  • Glycogenosis Generalized Cardiac Form

  • Glycogenosis Ii

  • Gsd-Ii

  • Storage Disease, Glycogen, Type Ii

  • Generalized Glycogen Storage Disease Of Infants

  • Cardiac Form Of Generalized Glycogenosis

Junctional Epidermolysis Bullosa
  • Epidermolysis Bullosa, Junctional

  • Jeb

  • Epidermolysis Bullosa Atrophicans

  • Congenital Junctional Epidermolysis Bullosa

  • Epidermolysis Bullosa Junctional

  • Junctional Eb - [Epidermolysis Bullosa]

  • Jeb - [Junctional Epidermolysis Bullosa]

  • Lucidolytic Epidermolysis Bullosa

Distal Arthrogryposis
  • Arthrogryposis Multiplex Congenita

  • Arthrogryposis

  • Congenital Multiple Arthrogryposis

  • Congenital Arthromyodysplasia

  • Fibrous Ankylosis Of Multiple Joints

  • Guerin-Stern Syndrome

  • Guérin-Stern Syndrome

  • Myodystrophia Fetalis Deformans

  • Otto Syndrome

  • Rocher-Sheldon Syndrome

  • Rossi Syndrome

  • Amc

  • Multiple Congenital Arthrogryposis

  • Arthrogryposis Syndrome

  • Arthrogryposis, Distal

  • Distal Arthrogryposis Syndrome

  • Freeman-Sheldon Syndrome

  • Arthrogryposis, Distal, Type 2b

  • Congenital Multiplex Arthrogryposis

  • Amyoplasia Congenita

  • Congenital Amyoplasia

  • Amc - [Arthrogryposis Multiplex Congenita]

Cardiomyopathy, Dilated, 1h
  • Dilated Cardiomyopathy 1h

  • Dilated Cardiomyopathy With Conduction Defect

  • CMD1H

  • Cardiomyopathy, Dilated, With Conduction Defect

Oculopharyngeal Muscular Dystrophy
  • OPMD

  • Muscular Dystrophy, Oculopharyngeal

  • Dystrophy, Oculopharyngeal Muscular

  • Oculopharyngeal Dystrophy

  • Progressive Muscular Dystrophy, Oculopharyngeal Type

  • Muscular Dystrophy Oculopharyngeal

  • Dystrophy, Muscular, Oculopharyngeal

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
  • EDMD2

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy

  • Emd2

  • Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant

  • Scapuloilioperoneal Atrophy With Cardiopathy

  • Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant

  • Hauptmann-Thannhauser Muscular Dystrophy

  • Cardiomyopathy, Dilated, With Quadriceps Myopathy

  • Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2

  • Muscular Dystrophy, Limb-Girdle, Type 1b

  • Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly

  • Lgmd1b, Formerly

  • Muscular Dystrophy, Proximal, Type 1b, Formerly

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b

  • Lgmd1b

  • Limb-Girdle Muscular Dystrophy 1b

  • Muscular Dystrophy, Proximal, Type 1b

  • Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Congenital Fiber-Type Disproportion
  • Congenital Fiber Type Disproportion

  • Cftdm

  • Congenital Myopathy With Fiber Type Disproportion

  • Cftd

  • Congenital Fiber-Type Disproportion Myopathy

  • Fiber-Type Disproportion Myopathy, Congenital

  • Myopathy, Congenital With Fiber-Type Disproportion

Megalencephalic Leukoencephalopathy With Subcortical Cysts
  • Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts

  • Mlc

  • Van Der Knaap Disease

  • Lvm

  • Leukoencephalopathy With Swelling And Cysts

  • Megalencephaly-Cystic Leukodystrophy

  • Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome

  • Infantile Leukoencephalopathy And Megalencephaly

  • Leukoencephalopathy With Swelling And A Discrepantly Mild Course

  • Vacuolating Leukoencephalopathy

  • Megalencephalic Leukodystrophy

  • Megalencephaly-Cystic Leukodystrophy Syndrome

  • Van Der Knaap Syndrome

  • Leukoencephalopathy, Megalencephalic, With Subcortical Cysts

Centronuclear Myopathy
  • Myopathy, Centronuclear

  • Myotubular Myopathy

  • Cnm

  • Myopathy, Myotubular

  • Congenital Structural Myopathy

Congenital Myasthenic Syndrome
  • Congenital Myasthenia

  • Congenital Myasthenic Syndromes

  • Cms

  • Myasthenic Syndromes, Congenital

  • Myasthenic Syndromes Congenital

  • Myasthenic Syndrome, Congenital

  • Congenital Myasthenic Syndrome Ib

  • Congenital And Developmental Myasthenia

  • Developmental Myasthenia

Spinal Muscular Atrophy, Type Ii
  • SMA2

  • Sma Ii

  • Muscular Atrophy, Spinal, Intermediate Type

  • Muscular Atrophy, Spinal, Infantile Chronic Form

  • Intermediate Spinal Muscular Atrophy

  • Spinal Muscular Atrophy Type Ii

  • Spinal Muscular Atrophy-2

  • Spinal Muscular Atrophy 2

  • Spinal Muscular Atrophy Type 2

  • Dubowitz Disease

  • Proximal Spinal Muscular Atrophy Type 2

  • Sma Type 2

  • Sma Type Ii

  • Sma-Ii

  • Spinal Muscular Atrophy Infantile Chronic Form

  • Spinal Muscular Atrophy Intermediate Type

  • Spinal Muscular Atrophies Of Childhood

  • Atrophy, Muscular, Spinal, Type Ii

  • Muscular Atrophy, Spinal, Type Ii

Myofibrillar Myopathy
  • Desmin Related Myopathy

  • Myotilinopathy

  • Myopathy, Myofibrillar

  • Alpha Beta Crystallinopathy

  • Desmin Storage Myopathy

  • Desminopathy

  • Filaminopathy

  • Protein Surplus Myopathy

  • Zaspopathy

  • Myofibrillar Myopathies

  • Myopathy, Myofibrillar, Desmin-Related

  • Myopathy, Desmin Storage

  • Mfm - [Myofibrillar Myopathy]

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus LAMA2 RGD RGD:1308889
Mus musculus LAMA2 MGD MGI:99912
Felis catus LAMA2 VGNC VGNC:68004
Canis familiaris LAMA2 VGNC VGNC:42565
Bos taurus LAMA2 VGNC VGNC:57353
Macaca mulatta LAMA2 VGNC VGNC:74225
Others LAMA2 NCBI