MDCI
MCID: MSC164
MIFTS: 22

Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency (MDCI)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

MalaCards integrated aliases for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

Name: Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 57 53 29 6
Muscular Dystrophy, Congenital, Due to Itga7 Deficiency 57 53 29 13 6
Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency 12 53 59
Congenital Muscular Dystrophy with Itga7 Deficiency 12 53 59
Congenital Myopathy Due to Integrin Alpha-7 Deficiency 12 75
Dystrophy, Muscular, Congenital, Due to Integrin Alpha-7 Deficiency 40
Congenital Muscular Dystrophy Due to Integrin Alpha-7 Deficiency 12
Muscular Dystrophy Congenital Due to Integrin Alpha-7 Deficiency 75
Myopathy, Congenital, Due to Integrin Alpha-7 Deficiency 57
Mdci 75

Characteristics:

Orphanet epidemiological data:

59
congenital muscular dystrophy with integrin alpha-7 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three unrelated patients have been reported (last curated january 2010)


HPO:

32
muscular dystrophy, congenital, due to integrin alpha-7 deficiency:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 613204
Disease Ontology 12 DOID:0110639
ICD10 33 G71.2
Orphanet 59 ORPHA34520
ICD10 via Orphanet 34 G71.2
UMLS via Orphanet 74 C2750786
MeSH 44 D009136

Summaries for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

UniProtKB/Swiss-Prot : 75 Muscular dystrophy congenital due to integrin alpha-7 deficiency: A form of congenital muscular dystrophy. Patients present at birth, or within the first few months of life, with hypotonia, muscle weakness and often with joint contractures.

MalaCards based summary : Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency, is also known as muscular dystrophy, congenital, due to itga7 deficiency. An important gene associated with Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency is ITGA7 (Integrin Subunit Alpha 7). Affiliated tissues include skeletal muscle, and related phenotypes are intellectual disability and muscle weakness

Disease Ontology : 12 A congenital muscular dystrophy characterized by autosomal recessive inheritance that has material basis in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.

Description from OMIM: 613204

Related Diseases for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Symptoms & Phenotypes for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis

Muscle Soft Tissue:
muscle atrophy
hypotonia, neonatal
muscle weakness, predominantly proximal
dystrophic changes, mild, seen on muscle biopsy
lack of integrin alpha-7 staining

Respiratory:
dyspnea due to respiratory muscle weakness

Neurologic Central Nervous System:
delayed motor development
cognitive impairment (in 1 of 3 patients)

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

613204

Human phenotypes related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 muscle weakness 32 HP:0001324
3 scoliosis 32 HP:0002650
4 neonatal hypotonia 32 HP:0001319
5 cognitive impairment 32 frequent (33%) HP:0100543
6 myopathy 32 HP:0003198
7 elevated serum creatine phosphokinase 32 HP:0003236
8 skeletal muscle atrophy 32 HP:0003202
9 motor delay 32 HP:0001270
10 congenital muscular dystrophy 32 HP:0003741
11 increased variability in muscle fiber diameter 32 HP:0003557
12 infantile muscular hypotonia 32 HP:0008947
13 fatty replacement of skeletal muscle 32 HP:0012548

Drugs & Therapeutics for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency

Genetic Tests for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Genetic tests related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

# Genetic test Affiliating Genes
1 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 29 ITGA7
2 Muscular Dystrophy, Congenital, Due to Itga7 Deficiency 29

Anatomical Context for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

MalaCards organs/tissues related to Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

41
Skeletal Muscle

Publications for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

Variations for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency:

6 (show top 50) (show all 253)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGA7 ITGA7, IVSAS, A-G, -2 single nucleotide variant Pathogenic
2 ITGA7 ITGA7, IVSDS, T-C, +2 single nucleotide variant Pathogenic
3 ITGA7 ITGA7, 1-BP DEL, 1204G deletion Pathogenic
4 ITGA7 NM_002206.2(ITGA7): c.1659C> G (p.Pro553=) single nucleotide variant Conflicting interpretations of pathogenicity rs144052152 GRCh37 Chromosome 12, 56090761: 56090761
5 ITGA7 NM_002206.2(ITGA7): c.1659C> G (p.Pro553=) single nucleotide variant Conflicting interpretations of pathogenicity rs144052152 GRCh38 Chromosome 12, 55696977: 55696977
6 ITGA7 NM_002206.2(ITGA7): c.1765A> C (p.Ile589Leu) single nucleotide variant Uncertain significance rs200065922 GRCh37 Chromosome 12, 56090189: 56090189
7 ITGA7 NM_002206.2(ITGA7): c.1765A> C (p.Ile589Leu) single nucleotide variant Uncertain significance rs200065922 GRCh38 Chromosome 12, 55696405: 55696405
8 ITGA7 NM_002206.2(ITGA7): c.1965T> C (p.Cys655=) single nucleotide variant Conflicting interpretations of pathogenicity rs7971022 GRCh37 Chromosome 12, 56089344: 56089344
9 ITGA7 NM_002206.2(ITGA7): c.1965T> C (p.Cys655=) single nucleotide variant Conflicting interpretations of pathogenicity rs7971022 GRCh38 Chromosome 12, 55695560: 55695560
10 ITGA7 NM_002206.2(ITGA7): c.2087C> T (p.Ser696Leu) single nucleotide variant Uncertain significance rs76938320 GRCh37 Chromosome 12, 56088671: 56088671
11 ITGA7 NM_002206.2(ITGA7): c.2087C> T (p.Ser696Leu) single nucleotide variant Uncertain significance rs76938320 GRCh38 Chromosome 12, 55694887: 55694887
12 ITGA7 NM_002206.2(ITGA7): c.2433-5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs79745402 GRCh37 Chromosome 12, 56087912: 56087912
13 ITGA7 NM_002206.2(ITGA7): c.2433-5G> A single nucleotide variant Conflicting interpretations of pathogenicity rs79745402 GRCh38 Chromosome 12, 55694128: 55694128
14 ITGA7 NM_002206.2(ITGA7): c.2569G> A (p.Gly857Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149081471 GRCh37 Chromosome 12, 56087068: 56087068
15 ITGA7 NM_002206.2(ITGA7): c.2569G> A (p.Gly857Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149081471 GRCh38 Chromosome 12, 55693284: 55693284
16 ITGA7 NM_002206.2(ITGA7): c.2644G> A (p.Glu882Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs144983062 GRCh37 Chromosome 12, 56086993: 56086993
17 ITGA7 NM_002206.2(ITGA7): c.2644G> A (p.Glu882Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs144983062 GRCh38 Chromosome 12, 55693209: 55693209
18 ITGA7 NM_002206.2(ITGA7): c.824G> A (p.Arg275His) single nucleotide variant Conflicting interpretations of pathogenicity rs74867235 GRCh37 Chromosome 12, 56092668: 56092668
19 ITGA7 NM_002206.2(ITGA7): c.824G> A (p.Arg275His) single nucleotide variant Conflicting interpretations of pathogenicity rs74867235 GRCh38 Chromosome 12, 55698884: 55698884
20 ITGA7 NM_002206.2(ITGA7): c.1088dupG (p.His364Serfs) duplication Pathogenic rs587780362 GRCh38 Chromosome 12, 55698487: 55698487
21 ITGA7 NM_002206.2(ITGA7): c.1088dupG (p.His364Serfs) duplication Pathogenic rs587780362 GRCh37 Chromosome 12, 56092271: 56092271
22 ITGA7 NM_002206.2(ITGA7): c.1617G> T (p.Gln539His) single nucleotide variant Benign rs61733963 GRCh37 Chromosome 12, 56090803: 56090803
23 ITGA7 NM_002206.2(ITGA7): c.1617G> T (p.Gln539His) single nucleotide variant Benign rs61733963 GRCh38 Chromosome 12, 55697019: 55697019
24 ITGA7 NM_002206.2(ITGA7): c.285G> T (p.Pro95=) single nucleotide variant Conflicting interpretations of pathogenicity rs17854601 GRCh37 Chromosome 12, 56096884: 56096884
25 ITGA7 NM_002206.2(ITGA7): c.285G> T (p.Pro95=) single nucleotide variant Conflicting interpretations of pathogenicity rs17854601 GRCh38 Chromosome 12, 55703100: 55703100
26 ITGA7 NM_002206.2(ITGA7): c.3018C> G (p.Ser1006=) single nucleotide variant Conflicting interpretations of pathogenicity rs17117883 GRCh37 Chromosome 12, 56082025: 56082025
27 ITGA7 NM_002206.2(ITGA7): c.3018C> G (p.Ser1006=) single nucleotide variant Conflicting interpretations of pathogenicity rs17117883 GRCh38 Chromosome 12, 55688241: 55688241
28 ITGA7 NM_002206.2(ITGA7): c.3031T> C (p.Leu1011=) single nucleotide variant Conflicting interpretations of pathogenicity rs17117879 GRCh37 Chromosome 12, 56082012: 56082012
29 ITGA7 NM_002206.2(ITGA7): c.3031T> C (p.Leu1011=) single nucleotide variant Conflicting interpretations of pathogenicity rs17117879 GRCh38 Chromosome 12, 55688228: 55688228
30 ITGA7 NM_002206.2(ITGA7): c.3144G> C (p.Gly1048=) single nucleotide variant Benign rs62648071 GRCh37 Chromosome 12, 56081794: 56081794
31 ITGA7 NM_002206.2(ITGA7): c.3144G> C (p.Gly1048=) single nucleotide variant Benign rs62648071 GRCh38 Chromosome 12, 55688010: 55688010
32 ITGA7 NM_002206.2(ITGA7): c.3384C> T (p.Pro1128=) single nucleotide variant Conflicting interpretations of pathogenicity rs148170949 GRCh37 Chromosome 12, 56078872: 56078872
33 ITGA7 NM_002206.2(ITGA7): c.3384C> T (p.Pro1128=) single nucleotide variant Conflicting interpretations of pathogenicity rs148170949 GRCh38 Chromosome 12, 55685088: 55685088
34 ITGA7 NM_002206.2(ITGA7): c.128G> T (p.Arg43Leu) single nucleotide variant Uncertain significance rs794726901 GRCh37 Chromosome 12, 56101339: 56101339
35 ITGA7 NM_002206.2(ITGA7): c.128G> T (p.Arg43Leu) single nucleotide variant Uncertain significance rs794726901 GRCh38 Chromosome 12, 55707555: 55707555
36 ITGA7 NM_002206.2(ITGA7): c.1410-3delC deletion Benign/Likely benign rs773251917 GRCh37 Chromosome 12, 56091333: 56091333
37 ITGA7 NM_002206.2(ITGA7): c.1410-3delC deletion Benign/Likely benign rs773251917 GRCh38 Chromosome 12, 55697549: 55697549
38 ITGA7 NM_002206.2(ITGA7): c.1722C> A (p.Ala574=) single nucleotide variant Conflicting interpretations of pathogenicity rs142311782 GRCh37 Chromosome 12, 56090698: 56090698
39 ITGA7 NM_002206.2(ITGA7): c.1722C> A (p.Ala574=) single nucleotide variant Conflicting interpretations of pathogenicity rs142311782 GRCh38 Chromosome 12, 55696914: 55696914
40 ITGA7 NM_002206.2(ITGA7): c.1606C> T (p.Leu536Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149028067 GRCh37 Chromosome 12, 56090814: 56090814
41 ITGA7 NM_002206.2(ITGA7): c.1606C> T (p.Leu536Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149028067 GRCh38 Chromosome 12, 55697030: 55697030
42 ITGA7 NM_002206.2(ITGA7): c.1771G> A (p.Val591Met) single nucleotide variant Uncertain significance rs774213412 GRCh37 Chromosome 12, 56090183: 56090183
43 ITGA7 NM_002206.2(ITGA7): c.1771G> A (p.Val591Met) single nucleotide variant Uncertain significance rs774213412 GRCh38 Chromosome 12, 55696399: 55696399
44 ITGA7 NM_002206.2(ITGA7): c.2293A> G (p.Ile765Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148641361 GRCh37 Chromosome 12, 56088291: 56088291
45 ITGA7 NM_002206.2(ITGA7): c.2293A> G (p.Ile765Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148641361 GRCh38 Chromosome 12, 55694507: 55694507
46 ITGA7 NM_002206.2(ITGA7): c.671-5C> A single nucleotide variant Benign/Likely benign rs180841797 GRCh37 Chromosome 12, 56093778: 56093778
47 ITGA7 NM_002206.2(ITGA7): c.671-5C> A single nucleotide variant Benign/Likely benign rs180841797 GRCh38 Chromosome 12, 55699994: 55699994
48 ITGA7 NM_002206.2(ITGA7): c.892C> T (p.Arg298Cys) single nucleotide variant Uncertain significance rs201594532 GRCh37 Chromosome 12, 56092600: 56092600
49 ITGA7 NM_002206.2(ITGA7): c.892C> T (p.Arg298Cys) single nucleotide variant Uncertain significance rs201594532 GRCh38 Chromosome 12, 55698816: 55698816
50 ITGA7 NM_001144996.1(ITGA7): c.1011-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs370741662 GRCh37 Chromosome 12, 56092364: 56092364

Expression for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

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GO Terms for Muscular Dystrophy, Congenital, Due to Integrin Alpha-7...

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