Autosomal dominant myoglobinuria

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr: 99846
OMIM Id: 160010
ICD-10: R82.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Muscular lipidosis
 -Rare genetic disease
 -Rare neurologic disease
Other metabolic disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002913) Myoglobinuria 22 / 7739
2
 (HPO:0001919) Acute kidney injury 21 / 7739
3
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
 (HPO:0003326) Myalgia 143 / 7739
5
 (HPO:0001324) Muscle weakness 859 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
 (OMIM) Enlarged calf muscles 1 / 7739
8
 (OMIM) Creatine kinase elevated between episodes 1 / 7739
9
 (OMIM) Mild muscle weakness 4 / 7739
10
 (OMIM) Episodic myalgia 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: