LGMD1E
MCID: MSC117
MIFTS: 36

Muscular Dystrophy, Limb-Girdle, Type 1e (LGMD1E) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 1e

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Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 1e:

Name: Muscular Dystrophy, Limb-Girdle, Type 1e 52 12 68
Lgmd1d 11 48 24 54 70
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 11 48 54 13
Lgmd1e 48 24 54 70
Limb-Girdle Muscular Dystrophy Type 1d 48 24 70
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 48 54
Limb-Girdle Muscular Dystrophy Type 1e 48 24
 
Limb-Girdle Muscular Dystrophy 1e 70 27
Muscular Dystrophy, Limb-Girdle, Type 1d 68
Muscular Dystrophy Limb-Girdle Type 1e 11
Muscular Dystrophy Limb-Girdle Type 1d 11
Lgmd 1e 24
Lgmd 1d 24

Characteristics:

Orphanet epidemiological data:

54
lgmd1d:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood
autosomal dominant limb-girdle muscular dystrophy type 1e:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

64
muscular dystrophy, limb-girdle, type 1e:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression

Classifications:



External Ids:

OMIM52 603511
Disease Ontology11 DOID:0110305
ICD1030 G71.0
ICD10 via Orphanet31 G71.0
MedGen37 C3148763
MeSH39 D049288

Summaries for Muscular Dystrophy, Limb-Girdle, Type 1e

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OMIM:52 LGMD1E is an autosomal dominant disorder characterized by adult onset of proximal muscle weakness, beginning in the hip... (603511) more...

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 1e, also known as lgmd1d, is related to muscular dystrophy, limb-girdle, type 1a and myopathy, myofibrillar, 1, and has symptoms including waddling gait, waddling gait and dysphagia. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 1e is DNAJB6 (DnaJ Heat Shock Protein Family (Hsp40) Member B6).

Disease Ontology:11 An autosomal dominant limb-girdle muscular dystrophy that has material basis in heterozygous mutation in the DNAJB6 gene on chromosome 7q36.

UniProtKB/Swiss-Prot:70 Limb-girdle muscular dystrophy 1E: An autosomal dominant myopathy characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 1e

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f muscular dystrophy, limb-girdle, type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 1e via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 1a10.9
2myopathy, myofibrillar, 110.8
3autoimmune thyroid disease 210.2DNAJB6, MYOT
4cardiomyopathy, dilated, 1i10.2DES, MYOT
5myopathy, early-onset, with fatal cardiomyopathy10.1FKRP, MYOT
6epilepsy, generalized, with febrile seizures plus, type 110.1DES, MYOT
7neurodegeneration with brain iron accumulation 610.1FKRP, MYOT
8nonsyndromic hearing loss and deafness, mitochondrial10.1DES, DNAJB6, MYOT
9celiac disease 210.1DES, DNAJB6, MYOT
10deafness, autosomal recessive 18b10.1FKRP, TRAPPC11
11spinocerebellar ataxia 1110.1FKRP, MYOT
12rippling muscle disease10.0CAV3, FKRP
13glycogen storage disease 0, muscle10.0CAV3, FKRP
14malignant hyperthermia susceptibility10.0CAV3, MYOT
15lyme disease10.0CAV3, DES, MYOT
16alk-positive large b-cell lymphoma10.0FKRP, GMPPB
17hypereosinophilic syndrome, idiopathic, resistant to imatinib10.0FKRP, TRAPPC11
18hydroa vacciniforme-like lymphoma10.0FKRP, GMPPB
19nephronophthisis 2, infantile9.9FKRP, HNRNPDL, TRAPPC11
20asphyxiating thoracic dystrophy9.9FKRP, GMPPB
21chronic atrial and intestinal dysrhythmia9.9DNAJB6, HNRNPDL, MYOT, TNPO3
22autosomal recessive limb-girdle muscular dystrophy type 2w9.9CAV3, FKRP, MYOT
23myopathy, spheroid body9.9CAV3, FKRP, MYOT
24myopathy, distal, with anterior tibial onset9.9CAV3, FKRP, MYOT
25spindle cell sarcoma9.9CAV3, DES, MYOT
26cerebral angioma9.9CAV3, FKRP, MYOT
27autosomal recessive limb-girdle muscular dystrophy type 2h9.9CAV3, FKRP
28central corneal ulcer9.9CAV3, FKRP, MYOT
29cornelia de lange syndrome 49.9DNAJB6, HNRNPDL, TNPO3, TRAPPC11
30autosomal recessive limb-girdle muscular dystrophy type 2f9.8CAV3, DNAJB6, MYOT, TNPO3
31mandibuloacral dysplasia9.8CAV3, DNAJB6, HNRNPDL, TNPO3
32myasthenia gravis, limb-girdle9.7FKRP, GMPPB
33dentinogenesis imperfecta, shields type iii9.7DNAJB6, HNRNPDL, MYOT, TNPO3, TRAPPC11
34hypertrophic cardiomyopathy 219.7GMPPB, HNRNPDL, TNPO3, TRAPPC11
35muscular dystrophy-dystroglycanopathy , type b, 149.7GMPPB, HNRNPDL, TNPO3, TRAPPC11
36rheumatoid arthritis, systemic juvenile9.7GMPPB, HNRNPDL, TNPO3, TRAPPC11
37muscular dystrophy-dystroglycanopathy , type a, 99.7GMPPB, HNRNPDL, TNPO3, TRAPPC11
38orofacial cleft 139.7GMPPB, HNRNPDL, TNPO3, TRAPPC11
39epileptic encephalopathy, early infantile, 49.7GMPPB, HNRNPDL, TNPO3, TRAPPC11
40dementia, frontotemporal9.6GMPPB, HNRNPDL, TNPO3, TRAPPC11
41osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures9.6CAV3, DNAJB6, FKRP, HNRNPDL, TNPO3
42spinal muscular atrophy, distal, autosomal recessive, 59.5DES, GMPPB, HNRNPDL, TNPO3, TRAPPC11
43hypospadias 3, autosomal9.5CAV3, DNAJB6, HNRNPDL, MYOT, TNPO3, TRAPPC11
44short-rib thoracic dysplasia 8 with or without polydactyly8.8CAV3, DES, DNAJB6, FKRP, GMPPB, HNRNPDL

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 1e:



Diseases related to muscular dystrophy, limb-girdle, type 1e

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 1e

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Symptoms by clinical synopsis from OMIM:

603511

Clinical features from OMIM:

603511

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 1e:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 dysphagia64 HP:0002015
2 waddling gait64 HP:0002515
3 elevated serum creatine phosphokinase64 HP:0003236
4 gowers sign64 HP:0003391
5 shoulder girdle muscle weakness64 HP:0003547
6 difficulty climbing stairs64 HP:0003551
7 muscle fiber splitting64 HP:0003555
8 muscular dystrophy64 HP:0003560
9 pelvic girdle muscle weakness64 HP:0003749
10 rimmed vacuoles64 HP:0003805

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type 1e:


waddling gait

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 1e

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Congenital Muscle Disease Study of Patient and Family Reported Medical InformationRecruitingNCT01403402

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 1e

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 1e

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Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 1e:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1e27
2 Limb-Girdle Muscular Dystrophy Type 1d24
3 Limb-Girdle Muscular Dystrophy Type 1e24 DNAJB6

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 1e

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Publications for Muscular Dystrophy, Limb-Girdle, Type 1e

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Variations for Muscular Dystrophy, Limb-Girdle, Type 1e

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UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 1e:

70
id Symbol AA change Variation ID SNP ID
1DNAJB6p.Phe89IleVAR_067833rs387907150
2DNAJB6p.Phe93LeuVAR_067834rs387907046
3DNAJB6p.Pro96ArgVAR_067835rs387907047

Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 1e:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DNAJB6NM_ 058246.3(DNAJB6): c.298T> G (p.Phe100Val)SNVPathogenicrs869320700GRCh37Chr 7, 157160129: 157160129
2DNAJB6NM_ 058246.3(DNAJB6): c.271T> A (p.Phe91Ile)SNVPathogenicrs869320701GRCh37Chr 7, 157160102: 157160102
3DNAJB6NM_ 058246.3(DNAJB6): c.273C> G (p.Phe91Leu)SNVPathogenicrs759982570GRCh38Chr 7, 157367410: 157367410
4DNAJB6NM_ 058246.3(DNAJB6): c.346+5G> ASNVPathogenicrs869320702GRCh38Chr 7, 157367488: 157367488
5DNAJB6NM_ 058246.3(DNAJB6): c.277T> C (p.Phe93Leu)SNVPathogenicrs387907046GRCh37Chr 7, 157160108: 157160108
6DNAJB6NM_ 058246.3(DNAJB6): c.287C> G (p.Pro96Arg)SNVPathogenicrs387907047GRCh37Chr 7, 157160118: 157160118
7DNAJB6NM_ 058246.3(DNAJB6): c.279C> G (p.Phe93Leu)SNVPathogenicrs149278319GRCh37Chr 7, 157160110: 157160110
8DNAJB6NM_ 058246.3(DNAJB6): c.279C> A (p.Phe93Leu)SNVPathogenicrs149278319GRCh37Chr 7, 157160110: 157160110
9DNAJB6NM_ 058246.3(DNAJB6): c.265T> A (p.Phe89Ile)SNVPathogenicrs387907150GRCh37Chr 7, 157160096: 157160096

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 1e

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Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 1e.

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 1e

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GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 1e

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Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 1e according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intercalated discGO:001470410.1CAV3, DES
2neuromuscular junctionGO:003159410.1CAV3, DES
3dystrophin-associated glycoprotein complexGO:001601010.0CAV3, FKRP
4sarcolemmaGO:00423839.2CAV3, DES, FKRP, MYOT
5Z discGO:00300188.8CAV3, DES, DNAJB6, MYOT

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 1e according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:004510910.4DES, DNAJB6
2muscle contractionGO:00069369.5CAV3, DES, MYOT
3regulation of heart contractionGO:00080169.5CAV3, DES

Sources for Muscular Dystrophy, Limb-Girdle, Type 1e

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet