MCID: MSC164
MIFTS: 22

Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency

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

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

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 169)
# 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.1088dupG (p.His364Serfs) duplication Pathogenic rs587780362 GRCh38 Chromosome 12, 55698487: 55698487
5 ITGA7 NM_002206.2(ITGA7): c.1088dupG (p.His364Serfs) duplication Pathogenic rs587780362 GRCh37 Chromosome 12, 56092271: 56092271
6 ITGA7 NM_002206.2(ITGA7): c.128G> T (p.Arg43Leu) single nucleotide variant Uncertain significance rs794726901 GRCh37 Chromosome 12, 56101339: 56101339
7 ITGA7 NM_002206.2(ITGA7): c.128G> T (p.Arg43Leu) single nucleotide variant Uncertain significance rs794726901 GRCh38 Chromosome 12, 55707555: 55707555
8 ITGA7 NM_002206.2(ITGA7): c.1410-3delC deletion Benign/Likely benign rs773251917 GRCh37 Chromosome 12, 56091333: 56091333
9 ITGA7 NM_002206.2(ITGA7): c.1410-3delC deletion Benign/Likely benign rs773251917 GRCh38 Chromosome 12, 55697549: 55697549
10 ITGA7 NM_002206.2(ITGA7): c.1722C> A (p.Ala574=) single nucleotide variant Conflicting interpretations of pathogenicity rs142311782 GRCh37 Chromosome 12, 56090698: 56090698
11 ITGA7 NM_002206.2(ITGA7): c.1722C> A (p.Ala574=) single nucleotide variant Conflicting interpretations of pathogenicity rs142311782 GRCh38 Chromosome 12, 55696914: 55696914
12 ITGA7 NM_002206.2(ITGA7): c.1606C> T (p.Leu536Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149028067 GRCh37 Chromosome 12, 56090814: 56090814
13 ITGA7 NM_002206.2(ITGA7): c.1606C> T (p.Leu536Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs149028067 GRCh38 Chromosome 12, 55697030: 55697030
14 ITGA7 NM_002206.2(ITGA7): c.1771G> A (p.Val591Met) single nucleotide variant Uncertain significance rs774213412 GRCh37 Chromosome 12, 56090183: 56090183
15 ITGA7 NM_002206.2(ITGA7): c.1771G> A (p.Val591Met) single nucleotide variant Uncertain significance rs774213412 GRCh38 Chromosome 12, 55696399: 55696399
16 ITGA7 NM_002206.2(ITGA7): c.2293A> G (p.Ile765Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148641361 GRCh37 Chromosome 12, 56088291: 56088291
17 ITGA7 NM_002206.2(ITGA7): c.2293A> G (p.Ile765Val) single nucleotide variant Conflicting interpretations of pathogenicity rs148641361 GRCh38 Chromosome 12, 55694507: 55694507
18 ITGA7 NM_002206.2(ITGA7): c.671-5C> A single nucleotide variant Benign/Likely benign rs180841797 GRCh37 Chromosome 12, 56093778: 56093778
19 ITGA7 NM_002206.2(ITGA7): c.671-5C> A single nucleotide variant Benign/Likely benign rs180841797 GRCh38 Chromosome 12, 55699994: 55699994
20 ITGA7 NM_002206.2(ITGA7): c.892C> T (p.Arg298Cys) single nucleotide variant Uncertain significance rs201594532 GRCh37 Chromosome 12, 56092600: 56092600
21 ITGA7 NM_002206.2(ITGA7): c.892C> T (p.Arg298Cys) single nucleotide variant Uncertain significance rs201594532 GRCh38 Chromosome 12, 55698816: 55698816
22 ITGA7 NM_001144996.1(ITGA7): c.1011-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs370741662 GRCh37 Chromosome 12, 56092364: 56092364
23 ITGA7 NM_001144996.1(ITGA7): c.1011-4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs370741662 GRCh38 Chromosome 12, 55698580: 55698580
24 ITGA7 NM_002206.2(ITGA7): c.2701A> G (p.Ile901Val) single nucleotide variant Conflicting interpretations of pathogenicity rs113651939 GRCh37 Chromosome 12, 56086936: 56086936
25 ITGA7 NM_002206.2(ITGA7): c.2701A> G (p.Ile901Val) single nucleotide variant Conflicting interpretations of pathogenicity rs113651939 GRCh38 Chromosome 12, 55693152: 55693152
26 ITGA7 NM_002206.2(ITGA7): c.791-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs144699549 GRCh37 Chromosome 12, 56092708: 56092708
27 ITGA7 NM_002206.2(ITGA7): c.791-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs144699549 GRCh38 Chromosome 12, 55698924: 55698924
28 ITGA7 NM_002206.2(ITGA7): c.1609C> T (p.Arg537Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61733050 GRCh37 Chromosome 12, 56090811: 56090811
29 ITGA7 NM_002206.2(ITGA7): c.1609C> T (p.Arg537Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61733050 GRCh38 Chromosome 12, 55697027: 55697027
30 ITGA7 NM_002206.2(ITGA7): c.1464C> T (p.Ile488=) single nucleotide variant Likely benign rs202051829 GRCh37 Chromosome 12, 56091276: 56091276
31 ITGA7 NM_002206.2(ITGA7): c.1464C> T (p.Ile488=) single nucleotide variant Likely benign rs202051829 GRCh38 Chromosome 12, 55697492: 55697492
32 ITGA7 NM_002206.2(ITGA7): c.882G> A (p.Val294=) single nucleotide variant Conflicting interpretations of pathogenicity rs148190047 GRCh37 Chromosome 12, 56092610: 56092610
33 ITGA7 NM_002206.2(ITGA7): c.882G> A (p.Val294=) single nucleotide variant Conflicting interpretations of pathogenicity rs148190047 GRCh38 Chromosome 12, 55698826: 55698826
34 ITGA7 NM_002206.2(ITGA7): c.459C> G (p.Ile153Met) single nucleotide variant Benign/Likely benign rs149000088 GRCh37 Chromosome 12, 56094894: 56094894
35 ITGA7 NM_002206.2(ITGA7): c.459C> G (p.Ile153Met) single nucleotide variant Benign/Likely benign rs149000088 GRCh38 Chromosome 12, 55701110: 55701110
36 ITGA7 NM_002206.2(ITGA7): c.46T> G (p.Cys16Gly) single nucleotide variant Benign/Likely benign rs142060614 GRCh38 Chromosome 12, 55707637: 55707637
37 ITGA7 NM_002206.2(ITGA7): c.46T> G (p.Cys16Gly) single nucleotide variant Benign/Likely benign rs142060614 GRCh37 Chromosome 12, 56101421: 56101421
38 ITGA7 NM_002206.2(ITGA7): c.1828G> A (p.Gly610Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150583010 GRCh37 Chromosome 12, 56090126: 56090126
39 ITGA7 NM_002206.2(ITGA7): c.1828G> A (p.Gly610Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150583010 GRCh38 Chromosome 12, 55696342: 55696342
40 ITGA7 NM_002206.2(ITGA7): c.1008C> T (p.Asp336=) single nucleotide variant Benign/Likely benign rs145114073 GRCh37 Chromosome 12, 56092351: 56092351
41 ITGA7 NM_002206.2(ITGA7): c.1008C> T (p.Asp336=) single nucleotide variant Benign/Likely benign rs145114073 GRCh38 Chromosome 12, 55698567: 55698567
42 ITGA7 NM_002206.2(ITGA7): c.3150G> T (p.Leu1050=) single nucleotide variant Benign/Likely benign rs114735704 GRCh37 Chromosome 12, 56081788: 56081788
43 ITGA7 NM_002206.2(ITGA7): c.3150G> T (p.Leu1050=) single nucleotide variant Benign/Likely benign rs114735704 GRCh38 Chromosome 12, 55688004: 55688004
44 ITGA7 NM_002206.2(ITGA7): c.2035C> A (p.Leu679Met) single nucleotide variant Uncertain significance rs142326016 GRCh37 Chromosome 12, 56088723: 56088723
45 ITGA7 NM_002206.2(ITGA7): c.2035C> A (p.Leu679Met) single nucleotide variant Uncertain significance rs142326016 GRCh38 Chromosome 12, 55694939: 55694939
46 ITGA7 NM_002206.2(ITGA7): c.537G> A (p.Gly179=) single nucleotide variant Conflicting interpretations of pathogenicity rs145463677 GRCh37 Chromosome 12, 56094816: 56094816
47 ITGA7 NM_002206.2(ITGA7): c.537G> A (p.Gly179=) single nucleotide variant Conflicting interpretations of pathogenicity rs145463677 GRCh38 Chromosome 12, 55701032: 55701032
48 ITGA7 NM_002206.2(ITGA7): c.3287C> T (p.Thr1096Met) single nucleotide variant Uncertain significance rs200485048 GRCh37 Chromosome 12, 56078969: 56078969
49 ITGA7 NM_002206.2(ITGA7): c.3287C> T (p.Thr1096Met) single nucleotide variant Uncertain significance rs200485048 GRCh38 Chromosome 12, 55685185: 55685185
50 ITGA7 NM_002206.2(ITGA7): c.1681G> A (p.Val561Met) single nucleotide variant Uncertain significance rs150089409 GRCh38 Chromosome 12, 55696955: 55696955

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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