AMYOTROPHIC LATERAL SCLEROSIS WITH POLYGLUCOSAN BODIES
General Information (adopted from Orphanet):
Synonyms, Signs:
|
|
Number of Symptoms
|
9
|
OrphanetNr:
|
|
OMIM Id:
|
205250
|
ICD-10:
|
|
UMLs:
|
|
MeSH:
|
|
MedDRA:
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
Prevalence:
|
No data available.
|
Inheritance:
|
Autosomal recessive inheritance
[Omim]
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
1
|
(HPO:0007354)
|
Amyotrophic lateral sclerosis |
|
|
|
|
25 / 7739
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
3
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
4
|
(OMIM)
|
Motor neuron loss |
|
|
|
|
1 / 7739
|
5
|
(OMIM)
|
Polyglucosan bodies in perikarya, cortex and cerebellum |
|
|
|
|
2 / 7739
|
6
|
(OMIM)
|
Progressive atrophy |
|
|
|
|
1 / 7739
|
7
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
8
|
(OMIM)
|
Distal weakness in arms then legs |
|
|
|
|
1 / 7739
|
9
|
(HPO:0002483)
|
Bulbar signs |
|
|
|
|
9 / 7739
|
ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |