MCID: FKR001
MIFTS: 23

Fkrp-Related Muscle Diseases malady

Categories: Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Fkrp-Related Muscle Diseases

Aliases & Descriptions for Fkrp-Related Muscle Diseases:

Name: Fkrp-Related Muscle Diseases 24
Walker-Warburg Syndrome, Fkrp-Related 24
Muscular Dystrophy, Congenital, 1c 69
Mdc1c 24

Classifications:



Summaries for Fkrp-Related Muscle Diseases

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/superpathways are O-linked glycosylation and Mannose type O-glycan biosynthesis. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and cellular

Related Diseases for Fkrp-Related Muscle Diseases

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)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy , type a, 5 11.3
2 muscular dystrophy-dystroglycanopathy , type b, 5 11.1
3 intrauterine growth retardation - mandibular malar hypoplasia 10.1 FKRP FKTN
4 nephronophthisis 2, infantile 10.1 FKRP FKTN
5 muscular dystrophy 10.1
6 autosomal recessive nonsyndromic deafness 47 10.0 FKTN LAMA2
7 sudden infant death with dysgenesis of the testes syndrome 10.0 FKTN LAMA2
8 thrombocytopenia, x-linked 10.0 FKRP LAMA2
9 limb-girdle muscular dystrophy 10.0
10 angiodysplasia 9.9 FKTN POMGNT1
11 alk-positive large b-cell lymphoma 9.9 FKRP POMT1
12 cardiomyopathy, dilated, 1aa, with or without lvnc 9.9 FKRP FKTN LAMA2
13 cerebral angioma 9.9 FKRP FKTN LAMA2
14 charcot-marie-tooth disease, type 2b2 9.9 FKRP LAMA2 POMGNT2
15 autosomal recessive limb-girdle muscular dystrophy type 2h 9.8 FKRP POMT1
16 systemic epstein-barr virus-positive t-cell lymphoproliferative disease of childhood 9.8 FKRP FKTN POMT1
17 muscular dystrophy-dystroglycanopathy , type c, 1 9.8 FKRP FKTN POMT1
18 deafness, autosomal recessive 18b 9.8 FKRP FKTN POMT1
19 hydroa vacciniforme-like lymphoma 9.7 FKRP POMGNT1 POMT1
20 asphyxiating thoracic dystrophy 9.7 FKRP POMGNT1 POMT1
21 emery-dreifuss muscular dystrophy, dominant type 9.7 FKRP FKTN LAMA2
22 coronary artery disease 9.6 FKRP FKTN POMGNT1 POMT1
23 dermatofibrosarcoma protuberans 9.4 FKRP FKTN LAMA2 POMGNT1 POMT1
24 cone-rod dystrophy, prph2-related 9.4 FKRP FKTN POMGNT1 POMGNT2 POMT1
25 central corneal ulcer 9.4 FKRP FKTN LAMA2 POMGNT1 POMT1
26 cardiomyopathy, dilated, 1x 9.3 FKTN LAMA2 POMGNT1 POMGNT2 POMT1
27 glycogen storage disease 0, muscle 9.2 FKRP FKTN LAMA2 POMGNT1 POMGNT2 POMT1
28 gabrg2-related generalized epilepsy with febrile seizures plus 9.2 FKRP FKTN LAMA2 POMGNT1 POMGNT2 POMT1
29 myasthenia gravis, limb-girdle 9.2 FKRP FKTN LAMA2 POMGNT1 POMGNT2 POMT1
30 muscular dystrophy, limb-girdle, type 1b 9.2 FKRP FKTN LAMA2 POMGNT1 POMGNT2 POMT1
31 autosomal dominant nonsyndromic deafness 9.2 FKRP 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

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.4 LAMA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.4 POMGNT1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.4 LAMA2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.4 POMGNT1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.4 LAMA2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 9.4 POMGNT1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.4 LAMA2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-28 9.4 POMGNT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.4 POMGNT1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.4 LAMA2 POMGNT1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.4 POMGNT1

MGI Mouse Phenotypes related to Fkrp-Related Muscle Diseases:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.65 POMGNT1 POMGNT2 FKRP FKTN LAMA2
2 mortality/aging MP:0010768 9.63 POMGNT2 POMT1 FKRP FKTN LAMA2 POMGNT1
3 muscle MP:0005369 9.35 POMT1 FKRP FKTN LAMA2 POMGNT1
4 nervous system MP:0003631 9.02 POMGNT1 POMGNT2 FKRP FKTN LAMA2

Drugs & Therapeutics for Fkrp-Related Muscle Diseases

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

Genetic Tests for Fkrp-Related Muscle Diseases

Genetic tests related to Fkrp-Related Muscle Diseases:

id Genetic test Affiliating Genes
1 Fkrp-Related Muscle Diseases 24 FKRP

Anatomical Context for Fkrp-Related Muscle Diseases

Publications for Fkrp-Related Muscle Diseases

Variations for Fkrp-Related Muscle Diseases

Expression for Fkrp-Related Muscle Diseases

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

Pathways for Fkrp-Related Muscle Diseases

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.39 POMGNT1 POMGNT2 POMT1
2 10.38 FKRP FKTN POMGNT1 POMGNT2 POMT1

GO Terms for Fkrp-Related Muscle Diseases

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

id Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.33 FKRP FKTN POMGNT1
2 sarcolemma GO:0042383 8.96 FKRP LAMA2
3 endoplasmic reticulum GO:0005783 8.92 FKRP FKTN POMGNT2 POMT1

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

id Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.35 FKRP FKTN POMGNT1 POMGNT2 POMT1
2 protein O-linked glycosylation GO:0006493 9.33 POMGNT1 POMGNT2 POMT1
3 muscle organ development GO:0007517 9.26 FKTN LAMA2
4 protein O-linked mannosylation GO:0035269 8.92 FKRP FKTN POMGNT2 POMT1

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.35 FKRP FKTN POMGNT1 POMGNT2 POMT1
2 transferase activity, transferring glycosyl groups GO:0016757 9.33 POMGNT1 POMGNT2 POMT1
3 acetylglucosaminyltransferase activity GO:0008375 8.62 POMGNT1 POMGNT2

Sources for Fkrp-Related Muscle Diseases

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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