MCID: MSC117
MIFTS: 28

Muscular Dystrophy, Limb-Girdle, Type 1e malady

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

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

About this section

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

Name: Muscular Dystrophy, Limb-Girdle, Type 1e 51 12 67
Lgmd1d 11 47 24 53 69
Lgmd1e 47 24 53 69
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e 11 47 53
Limb-Girdle Muscular Dystrophy Type 1d 47 24 69
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d 47 53
Limb-Girdle Muscular Dystrophy Type 1e 47 24
 
Limb-Girdle Muscular Dystrophy 1e 69 26
Muscular Dystrophy, Limb-Girdle, Type 1d 67
Muscular Dystrophy Limb-Girdle Type 1e 11
Muscular Dystrophy Limb-Girdle Type 1d 11
Lgmd 1e 24
Lgmd 1d 24

Characteristics:

Orphanet epidemiological data:

53
lgmd1d:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood
lgmd1e:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult

HPO:

63
muscular dystrophy, limb-girdle, type 1e:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, slow progression

Classifications:



External Ids:

OMIM51 603511
Disease Ontology11 DOID:0110305
ICD1029 G71.0
ICD10 via Orphanet30 G71.0
MedGen36 C3148763
MeSH38 D049288

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

About this section
OMIM:51 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 dysphagia, waddling gait and elevated serum creatine phosphokinase. 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:69 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

About this section

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

About this section

Symptoms by clinical synopsis from OMIM:

603511

Clinical features from OMIM:

603511

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

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 dysphagia63 HP:0002015
2 waddling gait63 HP:0002515
3 elevated serum creatine phosphokinase63 HP:0003236
4 gowers sign63 HP:0003391
5 shoulder girdle muscle weakness63 HP:0003547
6 difficulty climbing stairs63 HP:0003551
7 muscle fiber splitting63 HP:0003555
8 muscular dystrophy63 HP:0003560
9 pelvic girdle muscle weakness63 HP:0003749
10 rimmed vacuoles63 HP:0003805

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


waddling gait

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

About this section

Interventional clinical trials:

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

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

About this section

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

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1e26
2 Limb-Girdle Muscular Dystrophy Type 1d24
3 Limb-Girdle Muscular Dystrophy Type 1e24 DNAJB6

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

About this section

Animal Models for Muscular Dystrophy, Limb-Girdle, Type 1e or affiliated genes

About this section

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

About this section

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

About this section

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

69
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

About this section
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

About this section

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1Z discGO:00300189.1DES, DNAJB6

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filament organizationGO:00451099.1DES, DNAJB6

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

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet