MDDGC7
MCID: MSC111
MIFTS: 32

Muscular Dystrophy-Dystroglycanopathy , Type C, 7 (MDDGC7)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

MalaCards integrated aliases for Muscular Dystrophy-Dystroglycanopathy , Type C, 7:

Name: Muscular Dystrophy-Dystroglycanopathy , Type C, 7 57 75 29 6 73
Lgmd2u 57 12 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u 12 59 15
Mddgc7 57 12 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due to Ispd Deficiency 12 59
Muscular Dystrophy, Limb-Girdle, Type 2u 57 75
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20; Lgmdr20 57
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20 57
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7 75
Dystrophy, Muscular, Dystroglycanopathy, Type C7 ) 40
Muscular Dystrophy, Limb-Girdle, Type 2u; Lgmd2u 57
Muscular Dystrophy-Dystroglycanopathy Type C7 12
Muscular Dystrophy Limb-Girdle Type 2u 12
Lgmdr20 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive limb-girdle muscular dystrophy type 2u
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
slowly progressive
two unrelated families have been reported (last curated october 2014)
lower limbs more severely affected
loss of independent ambulation due to muscle weakness in adulthood


HPO:

32
muscular dystrophy-dystroglycanopathy , type c, 7:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616052
Disease Ontology 12 DOID:0110295
ICD10 33 G71.0
Orphanet 59 ORPHA352479
ICD10 via Orphanet 34 G71.0
MeSH 44 D049288
UMLS 73 C4015095

Summaries for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

UniProtKB/Swiss-Prot : 75 Muscular dystrophy-dystroglycanopathy limb-girdle C7: A form of muscular dystrophy resulting from defective glycosylation of alpha-dystroglycan, and characterized by a limb-girdle phenotype with muscular weakness apparent after ambulation is achieved. MDDGC7 individuals do not show epilepsy, mental retardation, structural eye/brain abnormalities, or white matter changes.

MalaCards based summary : Muscular Dystrophy-Dystroglycanopathy , Type C, 7, also known as lgmd2u, is related to muscular dystrophy-dystroglycanopathy and bethlem myopathy 1. An important gene associated with Muscular Dystrophy-Dystroglycanopathy , Type C, 7 is ISPD (Isoprenoid Synthase Domain Containing). Affiliated tissues include eye and brain, and related phenotypes are muscle weakness and macroglossia

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that hhas material basis in homozygous mutation in the ISPD gene on chromosome 7p21.

Description from OMIM: 616052

Related Diseases for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Diseases in the Muscular Dystrophy-Dystroglycanopathy family:

Muscular Dystrophy-Dystroglycanopathy , Type a, 1 Muscular Dystrophy-Dystroglycanopathy , Type a, 3
Muscular Dystrophy-Dystroglycanopathy , Type a, 4 Muscular Dystrophy-Dystroglycanopathy , Type B, 5
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 Muscular Dystrophy-Dystroglycanopathy , Type B, 6
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 Muscular Dystrophy-Dystroglycanopathy , Type C, 4
Muscular Dystrophy-Dystroglycanopathy , Type C, 15 Muscular Dystrophy-Dystroglycanopathy , Type a, 2
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 Muscular Dystrophy-Dystroglycanopathy , Type B, 4
Muscular Dystrophy-Dystroglycanopathy , Type a, 5 Muscular Dystrophy-Dystroglycanopathy , Type a, 6
Muscular Dystrophy-Dystroglycanopathy , Type B, 1 Muscular Dystrophy-Dystroglycanopathy , Type B, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 3 Muscular Dystrophy-Dystroglycanopathy , Type C, 2
Muscular Dystrophy-Dystroglycanopathy , Type C, 9 Muscular Dystrophy-Dystroglycanopathy , Type a, 7
Muscular Dystrophy-Dystroglycanopathy , Type a, 8 Muscular Dystrophy-Dystroglycanopathy , Type a, 10
Muscular Dystrophy-Dystroglycanopathy , Type a, 11 Muscular Dystrophy-Dystroglycanopathy , Type a, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 13 Muscular Dystrophy-Dystroglycanopathy , Type a, 14
Muscular Dystrophy-Dystroglycanopathy , Type B, 14 Muscular Dystrophy-Dystroglycanopathy , Type C, 14
Muscular Dystrophy-Dystroglycanopathy , Type C, 7 Muscular Dystrophy-Dystroglycanopathy , Type C, 12
Muscular Dystrophy-Dystroglycanopathy , Type a, 9 Muscular Dystrophy-Dystroglycanopathy , Type C, 8

Diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy-dystroglycanopathy 10.0 GMPPB ISPD
2 bethlem myopathy 1 9.9 GMPPB ISPD
3 muscle eye brain disease 9.9 GMPPB ISPD
4 muscular dystrophy, limb-girdle, type 1h 9.8 HNRNPDL TNPO3
5 autosomal recessive limb-girdle muscular dystrophy type 2q 9.8 HNRNPDL TNPO3
6 walker-warburg syndrome 9.8 GMPPB ISPD
7 autosomal dominant limb-girdle muscular dystrophy type 1f 9.8 HNRNPDL TNPO3
8 autosomal dominant limb-girdle muscular dystrophy type 1b 9.8 HNRNPDL TNPO3
9 autosomal dominant limb-girdle muscular dystrophy type 1c 9.8 HNRNPDL TNPO3
10 limb-girdle muscular dystrophy 9.7 HNRNPDL TNPO3 TRAPPC11
11 muscular dystrophy-dystroglycanopathy , type c, 1 9.7 HNRNPDL TNPO3 TRAPPC11
12 autosomal dominant limb-girdle muscular dystrophy type 1g 9.7 HNRNPDL TNPO3 TRAPPC11
13 muscular dystrophy-dystroglycanopathy , type c, 3 9.6 HNRNPDL TNPO3 TRAPPC11
14 muscular dystrophy-dystroglycanopathy , type c, 2 9.6 HNRNPDL TNPO3 TRAPPC11
15 muscular dystrophy-dystroglycanopathy , type c, 9 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
16 autosomal recessive limb-girdle muscular dystrophy type 2r 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
17 muscular dystrophy, limb-girdle, autosomal dominant 1 9.5 GMPPB HNRNPDL TNPO3 TRAPPC11
18 autosomal recessive limb-girdle muscular dystrophy type 2w 9.3 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11
19 muscular dystrophy 9.3 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11
20 muscular dystrophy-dystroglycanopathy , type c, 14 9.3 GMPPB HNRNPDL ISPD TNPO3 TRAPPC11

Graphical network of the top 20 diseases related to Muscular Dystrophy-Dystroglycanopathy , Type C, 7:



Diseases related to Muscular Dystrophy-Dystroglycanopathy  , Type C, 7

Symptoms & Phenotypes for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
limb-girdle muscular dystrophy
hypoglycosylation of alpha-dystroglycan
calf hypertrophy
dystrophic changes seen on muscle biopsy
muscle weakness, proximal, upper and lower limbs affected
more
Laboratory Abnormalities:
increased serum creatine kinase
myoglobinuria after exertion (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Respiratory:
decreased forced vital capacity


Clinical features from OMIM:

616052

Human phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 7:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 macroglossia 32 HP:0000158
3 elevated serum creatine phosphokinase 32 HP:0003236
4 limb-girdle muscular dystrophy 32 HP:0006785
5 scapular winging 32 HP:0003691
6 calf muscle hypertrophy 32 HP:0008981
7 hypoglycosylation of alpha-dystroglycan 32 HP:0030046

GenomeRNAi Phenotypes related to Muscular Dystrophy-Dystroglycanopathy , Type C, 7 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased HIV-1 infection GR00226-A 8.62 HNRNPDL TNPO3

Drugs & Therapeutics for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Genetic Tests for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Genetic tests related to Muscular Dystrophy-Dystroglycanopathy , Type C, 7:

# Genetic test Affiliating Genes
1 Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 7 29 ISPD

Anatomical Context for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

MalaCards organs/tissues related to Muscular Dystrophy-Dystroglycanopathy , Type C, 7:

41
Eye, Brain

Publications for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 7:

75
# Symbol AA change Variation ID SNP ID
1 ISPD p.Gly54Ala VAR_071955 rs587777797
2 ISPD p.Pro149Leu VAR_078948 rs369219851
3 ISPD p.Tyr226Cys VAR_078951
4 ISPD p.Ala53Thr VAR_078970

ClinVar genetic disease variations for Muscular Dystrophy-Dystroglycanopathy , Type C, 7:

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 ISPD NM_001101426.3(ISPD): c.1120-1G> T single nucleotide variant Pathogenic rs397515396 GRCh37 Chromosome 7, 16255823: 16255823
2 ISPD NM_001101426.3(ISPD): c.1120-1G> T single nucleotide variant Pathogenic rs397515396 GRCh38 Chromosome 7, 16216198: 16216198
3 ISPD NM_001101426.3(ISPD): c.277_279delATT (p.Ile93del) deletion Conflicting interpretations of pathogenicity rs397515398 GRCh37 Chromosome 7, 16445941: 16445943
4 ISPD NM_001101426.3(ISPD): c.277_279delATT (p.Ile93del) deletion Conflicting interpretations of pathogenicity rs397515398 GRCh38 Chromosome 7, 16406316: 16406318
5 ISPD NM_001101426.3(ISPD): c.1220T> C (p.Leu407Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141625803 GRCh37 Chromosome 7, 16255722: 16255722
6 ISPD NM_001101426.3(ISPD): c.1220T> C (p.Leu407Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141625803 GRCh38 Chromosome 7, 16216097: 16216097
7 ISPD NM_001101426.3(ISPD): c.32C> G (p.Pro11Arg) single nucleotide variant Benign/Likely benign rs192925278 GRCh37 Chromosome 7, 16460916: 16460916
8 ISPD NM_001101426.3(ISPD): c.32C> G (p.Pro11Arg) single nucleotide variant Benign/Likely benign rs192925278 GRCh38 Chromosome 7, 16421291: 16421291
9 ISPD NM_001101426.3(ISPD): c.407C> T (p.Ala136Val) single nucleotide variant Benign/Likely benign rs61734789 GRCh37 Chromosome 7, 16445813: 16445813
10 ISPD NM_001101426.3(ISPD): c.407C> T (p.Ala136Val) single nucleotide variant Benign/Likely benign rs61734789 GRCh38 Chromosome 7, 16406188: 16406188
11 ISPD NM_001101426.3(ISPD): c.726A> G (p.Gln242=) single nucleotide variant Benign/Likely benign rs61746966 GRCh37 Chromosome 7, 16348211: 16348211
12 ISPD NM_001101426.3(ISPD): c.726A> G (p.Gln242=) single nucleotide variant Benign/Likely benign rs61746966 GRCh38 Chromosome 7, 16308586: 16308586
13 ISPD NM_001101426.3(ISPD): c.161G> C (p.Gly54Ala) single nucleotide variant Pathogenic rs587777797 GRCh38 Chromosome 7, 16421162: 16421162
14 ISPD NM_001101426.3(ISPD): c.161G> C (p.Gly54Ala) single nucleotide variant Pathogenic rs587777797 GRCh37 Chromosome 7, 16460787: 16460787
15 ISPD NM_001101426.3(ISPD): c.1114_1116delGTT (p.Val372del) deletion Pathogenic rs587777798 GRCh37 Chromosome 7, 16298018: 16298020
16 ISPD NM_001101426.3(ISPD): c.1114_1116delGTT (p.Val372del) deletion Pathogenic rs587777798 GRCh38 Chromosome 7, 16258393: 16258395
17 ISPD NM_001101426.3(ISPD): c.79A> C (p.Thr27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs558064127 GRCh37 Chromosome 7, 16460869: 16460869
18 ISPD NM_001101426.3(ISPD): c.79A> C (p.Thr27Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs558064127 GRCh38 Chromosome 7, 16421244: 16421244
19 ISPD NM_001101426.3(ISPD): c.947C> A (p.Thr316Lys) single nucleotide variant Benign rs114363936 GRCh37 Chromosome 7, 16298624: 16298624
20 ISPD NM_001101426.3(ISPD): c.947C> A (p.Thr316Lys) single nucleotide variant Benign rs114363936 GRCh38 Chromosome 7, 16258999: 16258999
21 ISPD NM_001101426.3(ISPD): c.1059G> A (p.Lys353=) single nucleotide variant Benign/Likely benign rs181099904 GRCh37 Chromosome 7, 16298075: 16298075
22 ISPD NM_001101426.3(ISPD): c.1059G> A (p.Lys353=) single nucleotide variant Benign/Likely benign rs181099904 GRCh38 Chromosome 7, 16258450: 16258450
23 ISPD NM_001101426.3(ISPD): c.1054C> A (p.Gln352Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185594460 GRCh37 Chromosome 7, 16298080: 16298080
24 ISPD NM_001101426.3(ISPD): c.1054C> A (p.Gln352Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs185594460 GRCh38 Chromosome 7, 16258455: 16258455
25 ISPD NM_001101426.3(ISPD): c.67G> T (p.Gly23Cys) single nucleotide variant Benign/Likely benign rs187484645 GRCh37 Chromosome 7, 16460881: 16460881
26 ISPD NM_001101426.3(ISPD): c.67G> T (p.Gly23Cys) single nucleotide variant Benign/Likely benign rs187484645 GRCh38 Chromosome 7, 16421256: 16421256
27 ISPD NM_001101426.3(ISPD): c.53dupT (p.Ser19Glufs) duplication Pathogenic rs886041302 GRCh37 Chromosome 7, 16460895: 16460895
28 ISPD NM_001101426.3(ISPD): c.53dupT (p.Ser19Glufs) duplication Pathogenic rs886041302 GRCh38 Chromosome 7, 16421270: 16421270
29 ISPD NM_001101426.3(ISPD): c.999T> C (p.Asp333=) single nucleotide variant Conflicting interpretations of pathogenicity rs376909665 GRCh37 Chromosome 7, 16298572: 16298572
30 ISPD NM_001101426.3(ISPD): c.999T> C (p.Asp333=) single nucleotide variant Conflicting interpretations of pathogenicity rs376909665 GRCh38 Chromosome 7, 16258947: 16258947
31 ISPD NM_001101426.3(ISPD): c.532G> A (p.Gly178Arg) single nucleotide variant Uncertain significance rs202108204 GRCh37 Chromosome 7, 16445688: 16445688
32 ISPD NM_001101426.3(ISPD): c.532G> A (p.Gly178Arg) single nucleotide variant Uncertain significance rs202108204 GRCh38 Chromosome 7, 16406063: 16406063
33 ISPD NM_001101426.3(ISPD): c.320G> T (p.Ser107Ile) single nucleotide variant Uncertain significance rs199691459 GRCh37 Chromosome 7, 16445900: 16445900
34 ISPD NM_001101426.3(ISPD): c.320G> T (p.Ser107Ile) single nucleotide variant Uncertain significance rs199691459 GRCh38 Chromosome 7, 16406275: 16406275
35 ISPD NM_001101426.3(ISPD): c.934-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886043337 GRCh37 Chromosome 7, 16298642: 16298642
36 ISPD NM_001101426.3(ISPD): c.934-5A> G single nucleotide variant Conflicting interpretations of pathogenicity rs886043337 GRCh38 Chromosome 7, 16259017: 16259017
37 ISPD NM_001101426.3(ISPD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs886043573 GRCh37 Chromosome 7, 16460947: 16460947
38 ISPD NM_001101426.3(ISPD): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs886043573 GRCh38 Chromosome 7, 16421322: 16421322
39 ISPD NM_001101426.3(ISPD): c.200A> C (p.Gln67Pro) single nucleotide variant Uncertain significance rs886043637 GRCh37 Chromosome 7, 16460748: 16460748
40 ISPD NM_001101426.3(ISPD): c.200A> C (p.Gln67Pro) single nucleotide variant Uncertain significance rs886043637 GRCh38 Chromosome 7, 16421123: 16421123
41 ISPD NM_001101426.3(ISPD): c.258-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs767978961 GRCh37 Chromosome 7, 16445963: 16445963
42 ISPD NM_001101426.3(ISPD): c.258-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs767978961 GRCh38 Chromosome 7, 16406338: 16406338
43 ISPD NM_001101426.3(ISPD): c.360C> T (p.Val120=) single nucleotide variant Conflicting interpretations of pathogenicity rs183141256 GRCh37 Chromosome 7, 16445860: 16445860
44 ISPD NM_001101426.3(ISPD): c.360C> T (p.Val120=) single nucleotide variant Conflicting interpretations of pathogenicity rs183141256 GRCh38 Chromosome 7, 16406235: 16406235
45 ISPD NM_001101426.3(ISPD): c.1246C> T (p.Pro416Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs373134516 GRCh37 Chromosome 7, 16255696: 16255696
46 ISPD NM_001101426.3(ISPD): c.1246C> T (p.Pro416Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs373134516 GRCh38 Chromosome 7, 16216071: 16216071
47 ISPD NM_001101426.3(ISPD): c.551G> A (p.Arg184Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773739293 GRCh37 Chromosome 7, 16415850: 16415850
48 ISPD NM_001101426.3(ISPD): c.551G> A (p.Arg184Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773739293 GRCh38 Chromosome 7, 16376225: 16376225
49 ISPD NM_001101426.3(ISPD): c.808C> T (p.Leu270Phe) single nucleotide variant Uncertain significance rs200334999 GRCh37 Chromosome 7, 16341073: 16341073
50 ISPD NM_001101426.3(ISPD): c.808C> T (p.Leu270Phe) single nucleotide variant Uncertain significance rs200334999 GRCh38 Chromosome 7, 16301448: 16301448

Expression for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Search GEO for disease gene expression data for Muscular Dystrophy-Dystroglycanopathy , Type C, 7.

Pathways for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

GO Terms for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Molecular functions related to Muscular Dystrophy-Dystroglycanopathy , Type C, 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 8.62 GMPPB ISPD

Sources for Muscular Dystrophy-Dystroglycanopathy , Type C, 7

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