MCID: HYP772
MIFTS: 10

Hypermetabolism Due to Defect in Mitochondria

Aliases & Classifications for Hypermetabolism Due to Defect in Mitochondria

MalaCards integrated aliases for Hypermetabolism Due to Defect in Mitochondria:

Name: Hypermetabolism Due to Defect in Mitochondria 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
? autosomal recessive


HPO:

31
hypermetabolism due to defect in mitochondria:
Inheritance autosomal recessive inheritance


External Ids:

OMIM® 57 238800
MedGen 41 C1855926
SNOMED-CT via HPO 68 258211005

Summaries for Hypermetabolism Due to Defect in Mitochondria

MalaCards based summary : Hypermetabolism Due to Defect in Mitochondria The drugs Fluorodeoxyglucose F18 and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and thyroid, and related phenotype is abnormality of metabolism/homeostasis.

More information from OMIM: 238800

Related Diseases for Hypermetabolism Due to Defect in Mitochondria

Symptoms & Phenotypes for Hypermetabolism Due to Defect in Mitochondria

Human phenotypes related to Hypermetabolism Due to Defect in Mitochondria:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Metabolic:
hypermetabolism

Lab:
elevated bmr
mitochondrial defect of oxidation and phosphorylation coupling

Endocrine:
normal thyroid function

Clinical features from OMIM®:

238800 (Updated 20-May-2021)

Drugs & Therapeutics for Hypermetabolism Due to Defect in Mitochondria

Drugs for Hypermetabolism Due to Defect in Mitochondria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorodeoxyglucose F18
2 Radiopharmaceuticals
3 Fluorides

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Single Case Study of Hypermetabolism Active, not recruiting NCT04805268

Search NIH Clinical Center for Hypermetabolism Due to Defect in Mitochondria

Genetic Tests for Hypermetabolism Due to Defect in Mitochondria

Anatomical Context for Hypermetabolism Due to Defect in Mitochondria

MalaCards organs/tissues related to Hypermetabolism Due to Defect in Mitochondria:

40
Skeletal Muscle, Thyroid

Publications for Hypermetabolism Due to Defect in Mitochondria

Articles related to Hypermetabolism Due to Defect in Mitochondria:

# Title Authors PMID Year
1
A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b. 57
608115 1977
2
Skeletal muscle disease with abnormal mitochondria. 57
6058143 1967
3
A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. 57
14467237 1962

Variations for Hypermetabolism Due to Defect in Mitochondria

Expression for Hypermetabolism Due to Defect in Mitochondria

Search GEO for disease gene expression data for Hypermetabolism Due to Defect in Mitochondria.

Pathways for Hypermetabolism Due to Defect in Mitochondria

GO Terms for Hypermetabolism Due to Defect in Mitochondria

Sources for Hypermetabolism Due to Defect in Mitochondria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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