RREI
MCID: EXR006
MIFTS: 13

Exercise Intolerance, Riboflavin-Responsive (RREI)

Categories: Genetic diseases

Aliases & Classifications for Exercise Intolerance, Riboflavin-Responsive

MalaCards integrated aliases for Exercise Intolerance, Riboflavin-Responsive:

Name: Exercise Intolerance, Riboflavin-Responsive 57 75 29 6
Rrei 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in late childhood
one patient has been reported (last curated march 2016)


HPO:

32
exercise intolerance, riboflavin-responsive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616839
MeSH 44 D009135
SNOMED-CT via HPO 69 258211005 267044007

Summaries for Exercise Intolerance, Riboflavin-Responsive

UniProtKB/Swiss-Prot : 75 Exercise intolerance, riboflavin-responsive: A riboflavin-responsive form of exercise intolerance, a condition characterized by failure to maintain an expected level of force during sustained or repeated muscle contraction, resulting in an overwhelming sense of tiredness, lack of energy and feeling of exhaustion. RREI transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Exercise Intolerance, Riboflavin-Responsive, is also known as rrei. An important gene associated with Exercise Intolerance, Riboflavin-Responsive is SLC25A32 (Solute Carrier Family 25 Member 32). Affiliated tissues include skeletal muscle, and related phenotypes are ragged-red muscle fibers and exercise intolerance

Description from OMIM: 616839

Related Diseases for Exercise Intolerance, Riboflavin-Responsive

Symptoms & Phenotypes for Exercise Intolerance, Riboflavin-Responsive

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
exercise intolerance
ragged red fibers, mainly in type i fibers seen on skeletal muscle biopsy
lipid storage, mainly in type i fibers
small type ii fibers
decreased immunostaining for succinate dehydrogenase (mitochondrial complex ii)


Clinical features from OMIM:

616839

Human phenotypes related to Exercise Intolerance, Riboflavin-Responsive:

32
# Description HPO Frequency HPO Source Accession
1 ragged-red muscle fibers 32 HP:0003200
2 exercise intolerance 32 HP:0003546

Drugs & Therapeutics for Exercise Intolerance, Riboflavin-Responsive

Search Clinical Trials , NIH Clinical Center for Exercise Intolerance, Riboflavin-Responsive

Genetic Tests for Exercise Intolerance, Riboflavin-Responsive

Genetic tests related to Exercise Intolerance, Riboflavin-Responsive:

# Genetic test Affiliating Genes
1 Exercise Intolerance, Riboflavin-Responsive 29 SLC25A32

Anatomical Context for Exercise Intolerance, Riboflavin-Responsive

MalaCards organs/tissues related to Exercise Intolerance, Riboflavin-Responsive:

41
Skeletal Muscle

Publications for Exercise Intolerance, Riboflavin-Responsive

Variations for Exercise Intolerance, Riboflavin-Responsive

UniProtKB/Swiss-Prot genetic disease variations for Exercise Intolerance, Riboflavin-Responsive:

75
# Symbol AA change Variation ID SNP ID
1 SLC25A32 p.Arg147His VAR_076364 rs142329098

ClinVar genetic disease variations for Exercise Intolerance, Riboflavin-Responsive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A32 NM_030780.4(SLC25A32): c.425G> A (p.Trp142Ter) single nucleotide variant Pathogenic rs147014855 GRCh37 Chromosome 8, 104415519: 104415519
2 SLC25A32 NM_030780.4(SLC25A32): c.425G> A (p.Trp142Ter) single nucleotide variant Pathogenic rs147014855 GRCh38 Chromosome 8, 103403291: 103403291
3 SLC25A32 NM_030780.4(SLC25A32): c.440G> A (p.Arg147His) single nucleotide variant Pathogenic rs142329098 GRCh37 Chromosome 8, 104415504: 104415504
4 SLC25A32 NM_030780.4(SLC25A32): c.440G> A (p.Arg147His) single nucleotide variant Pathogenic rs142329098 GRCh38 Chromosome 8, 103403276: 103403276

Expression for Exercise Intolerance, Riboflavin-Responsive

Search GEO for disease gene expression data for Exercise Intolerance, Riboflavin-Responsive.

Pathways for Exercise Intolerance, Riboflavin-Responsive

GO Terms for Exercise Intolerance, Riboflavin-Responsive

Sources for Exercise Intolerance, Riboflavin-Responsive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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