Myopathy Congenital malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Myopathy Congenital

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60UMLS, 41NIH Rare Diseases, 42NINDS, 43Novoseek, 22GTR
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Myopathy Congenital, Aliases & Descriptions:

Name: Myopathy Congenital 41
Myopathy, Congenital 43 22
Congenital Myopathy 41 42
Batten Turner Congenital Myopathy 41
Myopathy - Congenital 42
Myotonia Congenita 60


Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases

Summaries for Myopathy Congenital

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NINDS:42 A myopathy is a disorder of the muscles that usually results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting normal developmental milestones such as turning over or sitting up.

MalaCards based summary: Myopathy Congenital, also known as myopathy, congenital, is related to myopathy and congenital fiber-type disproportion, and has symptoms including autosomal recessive inheritance, abnormality of the nervous system and myopathy. An important gene associated with Myopathy Congenital is CLCN1 (chloride channel, voltage-sensitive 1).

Related Diseases for Myopathy Congenital

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Diseases in the Myopathy family:

Gne-Related Myopathy Benign Autosomal Dominant Myopathy
myopathy congenital Myopathy Due to Calsequestrin and Serca1 Protein Overload

Diseases related to Myopathy Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
2congenital fiber-type disproportion10.3
3myopathy, congenital, compton-north10.3
4myopathy, congenital, with fiber-type disproportion10.3
5myopathy, congenital, with fiber-type disproportion, x-linked10.3
6cap myopathy10.2
7congenital myopathy, paradas type10.2
8benign samaritan congenital myopathy10.2
9congenital myopathy with internal nuclei and atypical cores10.2
10nemaline myopathy10.2
11congenital myopathy, undefined/nonspecific10.2
12bethlem myopathy10.1
13native american myopathy10.1
14central core disease10.1
15nemaline myopathy 3, autosomal dominant or recessive10.1
16malignant hyperthermia susceptibility 110.1
17becker muscular dystrophy10.1
18congenital structural myopathy10.1
19muscular dystrophy10.1
20congenital nonprogressive myopathy with moebius and robin sequences10.1
21reducing body myopathy10.1
22zebra body myopathy10.1
23muscular dystrophy, congenital, 1b9.9
24ullrich congenital muscular dystrophy9.9
25nemaline myopathy 109.9
26fetal akinesia deformation sequence9.9
27myopathy, areflexia, respiratory distress, and dysphagia, early-onset9.9
28sengers syndrome9.9
29costello syndrome9.9
30myopathy, tubular aggregate, 19.9
31stormorken syndrome9.9
32myopathy, myosin storage9.9
33marden-walker syndrome9.9
34minicore myopathy with external ophthalmoplegia9.9
35muscular dystrophy, congenital9.9
36mandibuloacral dysplasia9.9
37myopathy, centronuclear9.9
38muscular dystrophy, rigid spine, 19.9
39centronuclear myopathy 59.9
40nemaline myopathy 7, autosomal recessive9.9
41nemaline myopathy 5, amish type9.9
42myotubular myopathy, x-linked9.9
44spinal muscular atrophy9.9
46limb-girdle muscular dystrophy9.9
47whipple disease9.9
48muscular atrophy9.9
49malignant hyperthermia9.9
50cutis laxa9.9

Graphical network of the top 20 diseases related to Myopathy Congenital:

Diseases related to myopathy congenital

Symptoms for Myopathy Congenital

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HPO human phenotypes related to Myopathy Congenital:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormality of the nervous system HP:0000707
3 myopathy HP:0003198

Drugs & Therapeutics for Myopathy Congenital

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Drug clinical trials:

Search ClinicalTrials for Myopathy Congenital

Search NIH Clinical Center for Myopathy Congenital

Genetic Tests for Myopathy Congenital

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Genetic tests related to Myopathy Congenital:

id Genetic test Affiliating Genes
1 Congenital Myopathy22

Anatomical Context for Myopathy Congenital

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Animal Models for Myopathy Congenital or affiliated genes

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Publications for Myopathy Congenital

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Articles related to Myopathy Congenital:

Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. (18553514)
117th ENMC workshop: ventilatory support in congenital neuromuscular disorders -- congenital myopathies, congenital muscular dystrophies, congenital myotonic dystrophy and SMA (II) 4-6 April 2003, Naarden, The Netherlands. (14659414)

Variations for Myopathy Congenital

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Clinvar genetic disease variations for Myopathy Congenital:

6 (show all 23)
id Gene Variation Type Significance SNP ID Assembly Location
1CLCN1NM_000083.2(CLCN1): c.689G> A (p.Gly230Glu)single nucleotide variantPathogenicrs80356700GRCh37Chr 7, 143018934: 143018934
2CLCN1NM_000083.2(CLCN1): c.2795C> T (p.Pro932Leu)single nucleotide variantPathogenicrs80356706GRCh37Chr 7, 143048886: 143048886
3CLCN1NM_000083.2(CLCN1): c.1439C> T (p.Pro480Leu)single nucleotide variantPathogenicrs80356694GRCh37Chr 7, 143036383: 143036383
4CLCN1NM_000083.2(CLCN1): c.1655A> G (p.Gln552Arg)single nucleotide variantPathogenicrs80356696GRCh37Chr 7, 143039094: 143039094
5CLCN1NM_000083.2(CLCN1): c.870C> G (p.Ile290Met)single nucleotide variantPathogenicrs80356690GRCh37Chr 7, 143027881: 143027881
6CLCN1NM_000083.2(CLCN1): c.950G> A (p.Arg317Gln)single nucleotide variantPathogenicrs80356702GRCh37Chr 7, 143027961: 143027961
7CLCN1NM_000083.2(CLCN1): c.2680C> T (p.Arg894Ter)single nucleotide variantPathogenicrs55960271GRCh37Chr 7, 143048771: 143048771
8CLCN1NM_000083.2(CLCN1): c.382A> G (p.Met128Val)single nucleotide variantPathogenicrs80356699GRCh37Chr 7, 143017837: 143017837
9CLCN1NM_000083.2(CLCN1): c.1013G> A (p.Arg338Gln)single nucleotide variantPathogenicrs80356703GRCh37Chr 7, 143028358: 143028358
10CLCN1NM_000083.2(CLCN1): c.1412C> T (p.Ser471Phe)single nucleotide variantPathogenicrs80356693GRCh37Chr 7, 143036356: 143036356
11CLCN1NM_000083.2(CLCN1): c.1438C> A (p.Pro480Thr)single nucleotide variantPathogenicrs80356695GRCh37Chr 7, 143036382: 143036382
12CLCN1NM_000083.2(CLCN1): c.1592C> T (p.Ala531Val)single nucleotide variantPathogenicrs80356704GRCh37Chr 7, 143039031: 143039031
13CLCN1NM_000083.2(CLCN1): c.1667T> A (p.Ile556Asn)single nucleotide variantPathogenicrs80356697GRCh37Chr 7, 143039106: 143039106
14CLCN1NM_000083.2(CLCN1): c.2330delG (p.Gly777Alafs)deletionPathogenicrs80356707GRCh37Chr 7, 143043717: 143043717
15CLCN1NM_000083.2(CLCN1): c.394A> T (p.Ser132Cys)single nucleotide variantPathogenicrs80356684GRCh37Chr 7, 143017849: 143017849
16CLCN1NM_000083.2(CLCN1): c.577G> A (p.Glu193Lys)single nucleotide variantPathogenicrs80356686GRCh37Chr 7, 143018822: 143018822
17CLCN1NM_000083.2(CLCN1): c.592C> G (p.Leu198Val)single nucleotide variantPathogenicrs80356685GRCh37Chr 7, 143018837: 143018837
18CLCN1NM_000083.2(CLCN1): c.803C> T (p.Thr268Met)single nucleotide variantPathogenicrs80356687GRCh37Chr 7, 143021535: 143021535
19CLCN1NM_000083.2(CLCN1): c.847C> T (p.Leu283Phe)single nucleotide variantPathogenicrs80356688GRCh37Chr 7, 143021579: 143021579
20CLCN1NM_000083.2(CLCN1): c.857T> C (p.Val286Ala)single nucleotide variantPathogenicrs80356689GRCh37Chr 7, 143027868: 143027868
21CLCN1NM_000083.2(CLCN1): c.920T> C (p.Phe307Ser)single nucleotide variantPathogenicrs80356701GRCh37Chr 7, 143027931: 143027931
22CLCN1NM_000083.2(CLCN1): c.929C> T (p.Thr310Met)single nucleotide variantPathogenicrs80356691GRCh37Chr 7, 143027940: 143027940
23CLCN1NM_000083.2(CLCN1): c.937G> A (p.Ala313Thr)single nucleotide variantPathogenicrs80356692GRCh37Chr 7, 143027948: 143027948

Expression for genes affiliated with Myopathy Congenital

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Search GEO for disease gene expression data for Myopathy Congenital.

Pathways for genes affiliated with Myopathy Congenital

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Compounds for genes affiliated with Myopathy Congenital

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GO Terms for genes affiliated with Myopathy Congenital

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Products for genes affiliated with Myopathy Congenital

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Myopathy Congenital

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26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet