Congenital muscular dystrophy with integrin alpha-7 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
Congenital muscular dystrophy with ITGA7 deficiency
Number of Symptoms 18
OrphanetNr: 34520
OMIM Id: 613204
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.03 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of integrin alpha-7
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001270) Motor delay 322 / 7739
2
 (HPO:0100543) Cognitive impairment frequent [HPO:skoehler] 230 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0002650) Scoliosis 705 / 7739
5
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
6
 (HPO:0003198) Myopathy 151 / 7739
7
 (HPO:0001319) Neonatal hypotonia 101 / 7739
8
 (HPO:0003741) Congenital muscular dystrophy 22 / 7739
9
 (HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
10
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
11
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
12
 (HPO:0012548) Fatty replacement of skeletal muscle 8 / 7739
13
 (OMIM) Dyspnea due to respiratory muscle weakness 1 / 7739
14
 (OMIM) Lack of integrin alpha-7 staining 1 / 7739
15
 (OMIM) Dystrophic changes, mild, seen on muscle biopsy 1 / 7739
16
 (HPO:0003593) Infantile onset 249 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (OMIM) Muscle weakness, predominantly proximal 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hayashi et al. (1998) reported 2 unrelated Japanese patients with a congenital myopathy or muscular dystrophy. The first, a 3-year-old boy, showed delayed psychomotor milestones; he acquired the ability to roll over at 9 months, and walked at ...
Molecular genetics OMIM In a Japanese boy with congenital muscular dystrophy, Hayashi et al. (1998) identified compound heterozygosity for 2 truncating mutations in the ITGA7 gene (600536.0001 and 600536.0002). An unrelated girl was also compound heterozygous for 2 truncating mutations in ...