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.

Symptom Information: Sort by abundance 

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

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: