MCID: MSC036
MIFTS: 22

Muscular Dystrophy-Dystroglycanopathy , Type C, 5 malady

Genetic diseases, Neuronal diseases, Metabolic diseases, Rare diseases, Muscle diseases, Eye diseases, Fetal diseases, Cardiovascular diseases categories
Download this MalaCard

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section


Fully expand this MalaCard
MalaCards based summary: Muscular Dystrophy-Dystroglycanopathy , Type C, 5, also known as autosomal recessive limb-girdle muscular dystrophy type 2i, is related to muscular dystrophy and limb-girdle muscular dystrophy, and has symptoms including An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5 is FKRP (fukutin related protein). Affiliated tissues include brain.

Description from OMIM:46 607155

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section
Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Muscular Dystrophy-Dystroglycanopathy , Type C, 5, Aliases & Descriptions:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 5 46
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i 48
Limb-Girdle Muscular Dystrophy Due to Fkrp Deficiency 48
 
Muscular Dystrophy, Limb-Girdle, Type 2i 62
Lgmd2i 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
autosomal recessive limb-girdle muscular dystrophy type 2i:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


External Ids:

OMIM46 607155
ICD10 via Orphanet26 G71.0

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

Diseases in the Muscular Dystrophy-Dystroglycanopathy , Type a, 1 family:

Muscular Dystrophy-Dystroglycanopathy Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 9
Muscular Dystrophy-Dystroglycanopathy , Type a, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 12 Muscular Dystrophy-Dystroglycanopathy , Type a, 4
Muscular Dystrophy-Dystroglycanopathy , Type B, 4 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 1
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 2 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 2 Muscular Dystrophy-Dystroglycanopathy , Type a, 5
Muscular Dystrophy-Dystroglycanopathy , Type B, 5 muscular dystrophy-dystroglycanopathy , type c, 5
Muscular Dystrophy-Dystroglycanopathy , Type a, 6 Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy10.4
2limb-girdle muscular dystrophy10.3
3becker muscular dystrophy10.0
4calpainopathy10.0
5dilated cardiomyopathy10.0
6limb-girdle muscular dystrophy type 2i10.0

Graphical network of diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:



Diseases related to muscular dystrophy-dystroglycanopathy  , type c, 5

Symptoms for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

Symptoms by clinical synopsis from OMIM:

607155

Clinical features from OMIM:

607155

HPO human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

(show all 26)
id Description Frequency HPO Source Accession
1 exercise-induced myoglobinuria 25% HP:0008305
2 autosomal recessive inheritance HP:0000007
3 macroglossia HP:0000158
4 dilated cardiomyopathy HP:0001644
5 achilles tendon contracture HP:0001771
6 restrictive respiratory insufficiency HP:0002111
7 difficulty walking HP:0002355
8 frequent falls HP:0002359
9 waddling gait HP:0002515
10 scoliosis HP:0002650
11 kyphosis HP:0002808
12 nocturnal hypoventilation HP:0002877
13 vertebral fusion HP:0002948
14 elevated serum creatine phosphokinase HP:0003236
15 hyperlordosis HP:0003307
16 myalgia HP:0003326
17 muscle cramps HP:0003394
18 shoulder girdle muscle weakness HP:0003547
19 difficulty climbing stairs HP:0003551
20 proximal muscle weakness HP:0003701
21 thigh hypertrophy HP:0003733
22 congenital muscular dystrophy HP:0003741
23 pelvic girdle muscle weakness HP:0003749
24 variable expressivity HP:0003828
25 impaired left ventricular function HP:0005162
26 calf muscle hypertrophy HP:0008981

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

Drug clinical trials:

Search ClinicalTrials for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Search NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

32
Brain

Animal Models for Muscular Dystrophy-Dystroglycanopathy , Type C, 5 or affiliated genes

About this section

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

64 (show all 18)
id Symbol AA change Variation ID SNP ID
1FKRPp.Arg143SerVAR_018282rs148206382
2FKRPp.Leu276IleVAR_018285rs28937900
3FKRPp.Arg312CysVAR_018287
4FKRPp.Pro316ArgVAR_018289
5FKRPp.Arg339LeuVAR_018291
6FKRPp.Arg54TrpVAR_019272rs28937905
7FKRPp.Tyr307AsnVAR_022850
8FKRPp.Pro316SerVAR_022851
9FKRPp.Asp360AsnVAR_022853
10FKRPp.Pro462SerVAR_022856
11FKRPp.Val79MetVAR_065055rs104894683
12FKRPp.Arg134TrpVAR_065056
13FKRPp.Val160PheVAR_065057
14FKRPp.Tyr182CysVAR_065058
15FKRPp.Thr293IleVAR_065059
16FKRPp.Val300AlaVAR_065060
17FKRPp.Val300MetVAR_065061
18FKRPp.Pro358LeuVAR_065062

Clinvar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 5:

6
id Gene Name Type Significance SNP ID Assembly Location
1FKRPNM_024301.4(FKRP): c.826C> A (p.Leu276Ile)single nucleotide variantPathogenicrs28937900GRCh37Chr 19, 47259533: 47259533
2FKRPFKRP, 4-BP INS, NT390insertionPathogenic
3FKRPNM_024301.4(FKRP): c.1486T> A (p.Ter496Arg)single nucleotide variantPathogenicrs104894682GRCh37Chr 19, 47260193: 47260193
4FKRPNM_024301.4(FKRP): c.160C> T (p.Arg54Trp)single nucleotide variantPathogenicrs28937905GRCh37Chr 19, 47258867: 47258867
5FKRPNM_024301.4(FKRP): c.235G> A (p.Val79Met)single nucleotide variantPathogenicrs104894683GRCh37Chr 19, 47258942: 47258942
6FKRPNM_024301.4(FKRP): c.764G> A (p.Trp255Ter)single nucleotide variantPathogenicrs104894689GRCh37Chr 19, 47259471: 47259471
7FKRPNM_024301.4(FKRP): c.400C> T (p.Arg134Trp)single nucleotide variantPathogenicrs104894690GRCh37Chr 19, 47259107: 47259107
8FKRPNM_024301.4(FKRP): c.899T> C (p.Val300Ala)single nucleotide variantPathogenicrs104894691GRCh37Chr 19, 47259606: 47259606
9FKRPNM_024301.4(FKRP): c.919T> A (p.Tyr307Asn)single nucleotide variantPathogenicrs104894692GRCh37Chr 19, 47259626: 47259626

Expression for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section
Expression patterns in normal tissues for genes affiliated with Muscular Dystrophy-Dystroglycanopathy  , Type C, 5

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 5.

Pathways for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

Compounds for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

GO Terms for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section

Products for genes affiliated with Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 5

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet