MCID: FKR001
MIFTS: 24

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:
22GeneTests, 47Novoseek, 65UMLS
See all MalaCards sources

Aliases & Descriptions for Fkrp-Related Muscle Diseases:

Name: Fkrp-Related Muscle Diseases 22
Mdc1c 22 47
 
Walker-Warburg Syndrome, Fkrp-Related 22
Muscular Dystrophy, Congenital, 1c 65

Classifications:



External Ids:

UMLS65 C1847759

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 generalized muscle weakness, facial paresis and myalgia. 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 muscle and nervous system.

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 Large-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 21)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type a, 511.5
2muscular dystrophy-dystroglycanopathy , type b, 511.0
3muscular dystrophy10.2
4limb-girdle muscular dystrophy10.1
5autism spectrum disorder-epilepsy-arthrogryposis syndrome10.0FKRP, POMT1
6drug-induced hepatitis9.9FKTN, LAMA2
7sensory peripheral neuropathy9.8FKTN, POMGNT1
8periventricular nodular heterotopia9.7FKRP, FKTN
9aldosterone-producing adenoma with seizures and neurological abnormalities9.7FKRP, FKTN, POMT1
10immunodeficiency 34, mycobacteriosis, x-linked9.6FKRP, FKTN, LAMA2
11kummell's disease9.6FKRP, FKTN, LAMA2
12congenital muscular dystrophy without intellectual disability9.5FKRP, POMGNT1, POMT1
13cardiomyopathy with or without skeletal myopathy9.4FKRP, FKTN, LAMA2
14glycogen storage disease 0, muscle9.3FKRP, LAMA2, POMGNT2
15muscular dystrophy-dystroglycanopathy , type b, 49.0FKTN, LAMA2, POMGNT1, POMT1
16col12a1-related muscle diseases8.4FKRP, FKTN, POMGNT1, POMGNT2, POMT1
17fktn-related muscle diseases7.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
18muscular dystrophy, congenital7.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
19muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus7.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
20lennox-gastaut syndrome7.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
21alternating esotropia7.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1

Graphical network of the top 20 diseases related to Fkrp-Related Muscle Diseases:



Diseases related to fkrp-related muscle diseases

Symptoms for Fkrp-Related Muscle Diseases

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UMLS symptoms related to Fkrp-Related Muscle Diseases:


generalized muscle weakness, facial paresis, myalgia, muscle cramp

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 Diseases22 FKRP

Anatomical Context for Fkrp-Related Muscle Diseases

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Animal Models for Fkrp-Related Muscle Diseases or affiliated genes

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MGI Mouse Phenotypes related to Fkrp-Related Muscle Diseases:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2FKRP, FKTN, LAMA2, POMGNT1, POMT1
2MP:00036318.0FKRP, FKTN, LAMA2, POMGNT1, POMGNT2
3MP:00053848.0FKRP, FKTN, LAMA2, POMGNT1, POMGNT2
4MP:00053767.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2
5MP:00053787.8FKRP, FKTN, LAMA2, POMGNT1, POMGNT2
6MP:00107687.3FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1

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:00001399.6FKRP, FKTN

Sources for Fkrp-Related Muscle Diseases

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet