MCID: HYP772
MIFTS: 8

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
Inheritance:
? autosomal recessive


HPO:

32
hypermetabolism due to defect in mitochondria:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 57 238800
MedGen 42 C1855926

Summaries for Hypermetabolism Due to Defect in Mitochondria

MalaCards based summary : Hypermetabolism Due to Defect in Mitochondria Affiliated tissues include thyroid and skeletal muscle, 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:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939

Symptoms via clinical synopsis from OMIM:

57
Metabolic:
hypermetabolism

Lab:
elevated bmr
mitochondrial defect of oxidation and phosphorylation coupling

Endocrine:
normal thyroid function

Clinical features from OMIM:

238800

Drugs & Therapeutics for Hypermetabolism Due to Defect in Mitochondria

Search Clinical Trials , 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:

41
Thyroid, Skeletal Muscle

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. 8
608115 1977
2
Skeletal muscle disease with abnormal mitochondria. 8
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. 8
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
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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