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 57 72
Autosomal Dominant Myoglobinuria 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant myoglobinuria
Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal dominant type


HPO:

32
myoglobinuria, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 160010
ICD10 via Orphanet 34 R82.1
UMLS via Orphanet 73 C1834567
Orphanet 59 ORPHA99846
MedGen 42 C1834567
UMLS 72 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 myalgia

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:

32
# Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 myalgia 32 HP:0003326
3 acute kidney injury 32 HP:0001919
4 myoglobinuria 32 HP:0002913
5 elevated serum creatine kinase 32 HP:0003236

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 38 8
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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