MCID: MYG006
MIFTS: 15

Myoglobinuria, Autosomal Dominant

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoglobinuria, Autosomal Dominant

MalaCards integrated aliases for Myoglobinuria, Autosomal Dominant:

Name: Myoglobinuria, Autosomal Dominant 56 71
Autosomal Dominant Myoglobinuria 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant myoglobinuria
Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Inheritance:
autosomal dominant type


HPO:

31
myoglobinuria, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

OMIM 56 160010
ICD10 via Orphanet 33 R82.1
UMLS via Orphanet 72 C1834567
Orphanet 58 ORPHA99846
MedGen 41 C1834567
UMLS 71 C1834567

Summaries for Myoglobinuria, Autosomal Dominant

MalaCards based summary : Myoglobinuria, Autosomal Dominant, also known as autosomal dominant myoglobinuria, is related to myoglobinuria and acute kidney failure. Affiliated tissues include kidney, and related phenotypes are muscle weakness and elevated serum creatine kinase

More information from OMIM: 160010

Related Diseases for Myoglobinuria, Autosomal Dominant

Diseases in the Myoglobinuria family:

Myoglobinuria, Autosomal Dominant Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Recurrent

Diseases related to Myoglobinuria, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 myoglobinuria 10.0
2 acute kidney failure 10.0

Symptoms & Phenotypes for Myoglobinuria, Autosomal Dominant

Human phenotypes related to Myoglobinuria, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 HP:0001324
2 elevated serum creatine kinase 31 HP:0003236
3 myalgia 31 HP:0003326
4 acute kidney injury 31 HP:0001919
5 myoglobinuria 31 HP:0002913

Symptoms via clinical synopsis from OMIM:

56
Lab:
myoglobinuria
creatine kinase elevated between episodes

G U:
acute renal failure

Muscle:
episodic myalgia
mild muscle weakness
enlarged calf muscles

Misc:
precipitated by fever, viral illness, prolonged exercise, or alcohol use

Clinical features from OMIM:

160010

Drugs & Therapeutics for Myoglobinuria, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Myoglobinuria, Autosomal Dominant

Genetic Tests for Myoglobinuria, Autosomal Dominant

Anatomical Context for Myoglobinuria, Autosomal Dominant

MalaCards organs/tissues related to Myoglobinuria, Autosomal Dominant:

40
Kidney

Publications for Myoglobinuria, Autosomal Dominant

Articles related to Myoglobinuria, Autosomal Dominant:

# Title Authors PMID Year
1
Mitochondrial anomalies in a Swiss family with autosomal dominant myoglobinuria. 61 56
9098484 1997

Variations for Myoglobinuria, Autosomal Dominant

Expression for Myoglobinuria, Autosomal Dominant

Search GEO for disease gene expression data for Myoglobinuria, Autosomal Dominant.

Pathways for Myoglobinuria, Autosomal Dominant

GO Terms for Myoglobinuria, Autosomal Dominant

Sources for Myoglobinuria, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....