MCID: FKR001
MIFTS: 23

Fkrp-Related Muscle Diseases malady

Categories: Genetic diseases (common), Muscle diseases, Neuronal diseases

Aliases & Classifications for Fkrp-Related Muscle Diseases

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Sources:
24GeneTests, 50Novoseek, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Fkrp-Related Muscle Diseases:

Name: Fkrp-Related Muscle Diseases 24
Mdc1c 24 50
 
Walker-Warburg Syndrome, Fkrp-Related 24
Muscular Dystrophy, Congenital, 1c 68

Classifications:



Summaries for Fkrp-Related Muscle Diseases

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MalaCards based summary: Fkrp-Related Muscle Diseases, also known as mdc1c, is related to muscular dystrophy-dystroglycanopathy , type a, 5 and muscular dystrophy-dystroglycanopathy , type b, 5, and has symptoms including muscle cramp, myalgia and facial paresis. An important gene associated with Fkrp-Related Muscle Diseases is FKRP (Fukutin Related Protein), and among its related pathways are O-linked glycosylation and Other types of O-glycan biosynthesis. Related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and muscle.

Related Diseases for Fkrp-Related Muscle Diseases

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Diseases in the Muscle Disorders family:

Ano5-Related Muscle Diseases Chkb-Related Muscle Diseases
Col12a1-Related Muscle Diseases fkrp-related muscle diseases
Fktn-Related Muscle Diseases Gtdc2-Related Muscle Diseases
Ispd-Related Muscle Diseases Large1-Related Muscle Diseases
Lmna-Related Muscle Diseases Pomgnt1-Related Muscle Diseases
Pomt1-Related Muscle Diseases Pomt2-Related Muscle Diseases
Dag1-Related Muscle Diseases

Diseases related to Fkrp-Related Muscle Diseases via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type a, 511.3
2muscular dystrophy-dystroglycanopathy , type b, 510.8
3muscular dystrophy10.1
4limb-girdle muscular dystrophy10.0
5hyperphosphatemia10.0FKRP, FKTN
6intellectual disability-facial dysmorphism-hand anomalies syndrome9.7FKRP, FKTN, POMT1
7muscular dystrophy-dystroglycanopathy , type b, 19.7FKRP, FKTN, POMT1
8finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome9.6FKRP, POMT1
9thrombocytopenia, x-linked9.5FKRP, FKTN, LAMA2
10intellectual disability-seizures-macrocephaly-obesity syndrome9.5FKRP, POMGNT1, POMT1
11classic variant of chromophobe renal cell carcinoma9.4FKRP, FKTN, LAMA2
12gastric antral vascular ectasia9.4FKTN, POMGNT1, POMT1
13median arcuate ligament syndrome9.2FKRP, FKTN, LAMA2, POMT1
14colon cancer, advanced somatic8.5FKRP, FKTN, POMGNT1, POMGNT2, POMT1
15medial medullary syndrome8.5FKRP, FKTN, POMGNT1, POMGNT2, POMT1
16muscular dystrophy-dystroglycanopathy , type b, 48.4FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
17muscular dystrophy, congenital8.1FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
18nonsyndromic deafness8.0FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1

Graphical network of diseases related to Fkrp-Related Muscle Diseases:



Diseases related to fkrp-related muscle diseases

Symptoms & Phenotypes for Fkrp-Related Muscle Diseases

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UMLS symptoms related to Fkrp-Related Muscle Diseases:


muscle cramp, myalgia, facial paresis, generalized muscle weakness

GenomeRNAi Phenotypes related to Fkrp-Related Muscle Diseases according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-5810.2LAMA2, POMGNT1

MGI Mouse Phenotypes related to Fkrp-Related Muscle Diseases according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7FKRP, FKTN, LAMA2, POMGNT1, POMT1
2MP:00053848.5FKRP, FKTN, LAMA2, POMGNT1, POMGNT2
3MP:00053788.5FKRP, FKTN, LAMA2, POMGNT1, POMGNT2
4MP:00107687.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
5MP:00036317.6FKRP, FKTN, LAMA2, POMGNT1, POMGNT2

Drugs & Therapeutics for Fkrp-Related Muscle Diseases

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Fkrp-Related Muscle Diseases

Genetic Tests for Fkrp-Related Muscle Diseases

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Genetic tests related to Fkrp-Related Muscle Diseases:

id Genetic test Affiliating Genes
1 Fkrp-Related Muscle Diseases24 FKRP

Anatomical Context for Fkrp-Related Muscle Diseases

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Publications for Fkrp-Related Muscle Diseases

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Variations for Fkrp-Related Muscle Diseases

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Expression for genes affiliated with Fkrp-Related Muscle Diseases

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Search GEO for disease gene expression data for Fkrp-Related Muscle Diseases.

Pathways for genes affiliated with Fkrp-Related Muscle Diseases

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Pathways related to Fkrp-Related Muscle Diseases according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3POMGNT1, POMT1
29.3POMGNT1, POMT1

GO Terms for genes affiliated with Fkrp-Related Muscle Diseases

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Cellular components related to Fkrp-Related Muscle Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Golgi membraneGO:00001399.8FKRP, FKTN, POMGNT1
2sarcolemmaGO:00423839.5FKRP, LAMA2
3endoplasmic reticulumGO:00057839.5FKTN, POMGNT2, POMT1
4integral component of membraneGO:00160218.2FKRP, FKTN, POMGNT1, POMGNT2, POMT1

Biological processes related to Fkrp-Related Muscle Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:000751710.0FKTN, LAMA2
2protein O-linked glycosylationGO:00064938.8POMGNT1, POMGNT2, POMT1
3protein O-linked mannosylationGO:00352698.3FKRP, FKTN, POMGNT2, POMT1

Molecular functions related to Fkrp-Related Muscle Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:00167409.6FKRP, FKTN

Sources for Fkrp-Related Muscle Diseases

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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