Fingerprint body myopathy
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
5
|
|
OrphanetNr:
|
97232
|
|
OMIM Id:
|
305550
|
|
ICD-10:
|
G71.2
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
<
20
cases
[Orphanet]
|
|
Inheritance:
|
X-linked inheritance
[Omim]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
Congenital myopathy
-Rare genetic disease
-Rare neurologic disease
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
2
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
3
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
4
|
(OMIM)
|
Fingerprint bodies at the periphery of muscle fibers on EM |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Congenital mild myopathy |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |