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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Aliases & Descriptions for Fkrp-Related Muscle Diseases:

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

Classifications:



Summaries for Fkrp-Related Muscle Diseases

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MalaCards based summary: Fkrp-Related Muscle Diseases, also known as walker-warburg syndrome, fkrp-related, 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 Mannose type O-glycan biosynthesis. Related mouse phenotypes are Decreased shRNA abundance (Z-score < -2) and cellular.

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 31)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy-dystroglycanopathy , type a, 511.3
2muscular dystrophy-dystroglycanopathy , type b, 511.1
3intrauterine growth retardation - mandibular malar hypoplasia10.1FKRP, FKTN
4nephronophthisis 2, infantile10.1FKRP, FKTN
5muscular dystrophy10.1
6autosomal recessive nonsyndromic deafness 4710.0FKTN, LAMA2
7sudden infant death with dysgenesis of the testes syndrome10.0FKTN, LAMA2
8thrombocytopenia, x-linked10.0FKRP, LAMA2
9limb-girdle muscular dystrophy10.0
10angiodysplasia9.9FKTN, POMGNT1
11alk-positive large b-cell lymphoma9.9FKRP, POMT1
12cardiomyopathy, dilated, 1aa, with or without lvnc9.9FKRP, FKTN, LAMA2
13cerebral angioma9.9FKRP, FKTN, LAMA2
14charcot-marie-tooth disease, type 2b29.9FKRP, LAMA2, POMGNT2
15autosomal recessive limb-girdle muscular dystrophy type 2h9.8FKRP, POMT1
16systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood9.8FKRP, FKTN, POMT1
17muscular dystrophy-dystroglycanopathy , type c, 19.8FKRP, FKTN, POMT1
18deafness, autosomal recessive 18b9.8FKRP, FKTN, POMT1
19hydroa vacciniforme-like lymphoma9.7FKRP, POMGNT1, POMT1
20asphyxiating thoracic dystrophy9.7FKRP, POMGNT1, POMT1
21emery-dreifuss muscular dystrophy, dominant type9.7FKRP, FKTN, LAMA2
22coronary artery disease9.6FKRP, FKTN, POMGNT1, POMT1
23dermatofibrosarcoma protuberans9.4FKRP, FKTN, LAMA2, POMGNT1, POMT1
24cone-rod dystrophy, prph2-related9.4FKRP, FKTN, POMGNT1, POMGNT2, POMT1
25central corneal ulcer9.4FKRP, FKTN, LAMA2, POMGNT1, POMT1
26cardiomyopathy, dilated, 1x9.3FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
27glycogen storage disease 0, muscle9.2FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
28gabrg2-related generalized epilepsy with febrile seizures plus9.2FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
29myasthenia gravis, limb-girdle9.2FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
30muscular dystrophy, limb-girdle, type 1b9.2FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1
31autosomal dominant nonsyndromic deafness9.2FKRP, 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 & 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-8410.2LAMA2, POMGNT1

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053848.8FKRP, FKTN, LAMA2, POMGNT1, POMGNT2
2MP:00053698.4FKRP, FKTN, LAMA2, POMGNT1, POMT1
3MP:00036317.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2
4MP:00107687.9FKRP, FKTN, LAMA2, POMGNT1, POMGNT2, POMT1

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
8.5POMGNT1, POMGNT2, POMT1
27.6FKRP, FKTN, POMGNT1, POMGNT2, 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:00001399.5FKRP, FKTN, POMGNT1
3endoplasmic reticulumGO:00057838.9FKRP, FKTN, POMGNT2, POMT1

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

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:000751710.1FKTN, LAMA2
2protein O-linked glycosylationGO:00064938.8POMGNT1, POMGNT2, POMT1
3protein O-linked mannosylationGO:00352698.3FKRP, FKTN, POMGNT2, POMT1
4protein glycosylationGO:00064868.1FKRP, FKTN, POMGNT1, POMGNT2, POMT1

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

idNameGO IDScoreTop Affiliating Genes
1acetylglucosaminyltransferase activityGO:000837510.1POMGNT1, POMGNT2
2transferase activity, transferring glycosyl groupsGO:00167578.5POMGNT1, POMGNT2, POMT1
3transferase activityGO:00167408.2FKRP, FKTN, POMGNT1, POMGNT2, POMT1

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