MCID: FKR001
MIFTS: 20

Fkrp-Related Muscle Diseases malady

Genetic diseases (common), Neuronal diseases, Muscle diseases categories

Aliases & Classifications for Fkrp-Related Muscle Diseases

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Sources:
22GeneTests, 47Novoseek
See all sources

Aliases & Descriptions for Fkrp-Related Muscle Diseases:

Name: Fkrp-Related Muscle Diseases 22
Mdc1c 22 47
 
Walker-Warburg Syndrome, Fkrp-Related 22


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 and muscular dystrophy-dystroglycanopathy , type a, 5. An important gene associated with Fkrp-Related Muscle Diseases is FKRP (Fukutin Related Protein), and among its related pathways is Other types of O-glycan biosynthesis. Related mouse phenotypes are other 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 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 dystrophy30.2FKRP, FKTN, POMT1
2muscular dystrophy-dystroglycanopathy , type a, 510.5
3limb-girdle muscular dystrophy10.3
4muscular dystrophy-dystroglycanopathy , type b, 510.1
5salt-and-pepper syndrome10.0FKRP, POMT1
6hyperphosphatemia10.0FKRP, FKTN
7autism spectrum disorder-epilepsy-arthrogryposis syndrome9.9FKRP, FKTN, POMT1
8immunodeficiency 34, mycobacteriosis, x-linked9.8FKRP, FKTN, LAMA2
9congenital muscular dystrophy without intellectual disability9.8FKRP, POMGNT1, POMT1
10drug-induced hepatitis9.8FKRP, FKTN, LAMA2
11glycogen storage disease 0, muscle9.7FKRP, LAMA2, POMGNT2
12cardiomyopathy with or without skeletal myopathy9.7FKRP, FKTN, LAMA2
13congenital structural myopathy9.6FKRP, FKTN, POMGNT1, POMT1
14physical urticaria9.6FKRP, FKTN, POMGNT1, POMT1
15muscular dystrophy-dystroglycanopathy , type a, 49.6FKTN, LAMA2, POMGNT1, POMT1
16col12a1-related muscle diseases9.3FKRP, FKTN, POMGNT1, POMGNT2, POMT1
17fktn-related muscle diseases9.1FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
18muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.1FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
19muscular dystrophy, congenital9.1FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
20lennox-gastaut syndrome9.1FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
21myeloid leukemia9.1FKRP, 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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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:00053958.9FKTN, LAMA2, POMGNT1
2MP:00053697.6FKRP, FKTN, LAMA2, POMGNT1, 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 pathways (with members indented)ScoreTop Affiliating Genes
19.3POMGNT1, 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
1sarcolemmaGO:00423839.5FKRP, LAMA2
2Golgi membraneGO:00001398.7FKRP, FKTN, POMGNT1

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.5FKTN, LAMA2
2protein O-linked glycosylationGO:00064938.7POMGNT1, POMGNT2, POMT1
3protein O-linked mannosylationGO:00352698.5FKRP, 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
2acetylglucosaminyltransferase activityGO:00083759.0POMGNT1, POMGNT2

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