RREI
MCID: EXR006
MIFTS: 15

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 72 29 6
Rrei 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
exercise intolerance, riboflavin-responsive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616839
MeSH 44 D009135
SNOMED-CT via HPO 68 258211005 267044007

Summaries for Exercise Intolerance, Riboflavin-Responsive

UniProtKB/Swiss-Prot : 72 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

More information from OMIM: 616839

Related Diseases for Exercise Intolerance, Riboflavin-Responsive

Symptoms & Phenotypes for Exercise Intolerance, Riboflavin-Responsive

Human phenotypes related to Exercise Intolerance, Riboflavin-Responsive:

31
# Description HPO Frequency HPO Source Accession
1 ragged-red muscle fibers 31 HP:0003200
2 exercise intolerance 31 HP:0003546

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Skeletal Muscle

Publications for Exercise Intolerance, Riboflavin-Responsive

Articles related to Exercise Intolerance, Riboflavin-Responsive:

# Title Authors PMID Year
1
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance. 6 57
26933868 2016

Variations for Exercise Intolerance, Riboflavin-Responsive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A32 NM_030780.5(SLC25A32):c.440G>A (p.Arg147His) SNV Pathogenic 223106 rs142329098 GRCh37: 8:104415504-104415504
GRCh38: 8:103403276-103403276
2 SLC25A32 NM_030780.5(SLC25A32):c.425G>A (p.Trp142Ter) SNV Pathogenic 223105 rs147014855 GRCh37: 8:104415519-104415519
GRCh38: 8:103403291-103403291

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

72
# Symbol AA change Variation ID SNP ID
1 SLC25A32 p.Arg147His VAR_076364 rs142329098

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 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
Content
Loading form....