MCID: RDC012
MIFTS: 18

Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset

Categories: Genetic diseases

Aliases & Classifications for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

MalaCards integrated aliases for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset:

Name: Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset 57 75
Rbmx1b 57 75

Characteristics:

OMIM:

57
Miscellaneous:
frequent falls
rapidly progressive
loss of ambulation
onset in childhood (5 to 10 years)
female carriers may be less severely affected
see also severe, early-onset form

Inheritance:
x-linked


HPO:

32
reducing body myopathy, x-linked 1b, with late childhood or adult onset:
Onset and clinical course rapidly progressive
Inheritance x-linked inheritance


Classifications:



Summaries for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

OMIM : 57 Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death (RBMX1A; 300717), and a less severe form has onset in late childhood or adulthood (RBMX1B) (summary by Liewluck et al., 2007 and Shalaby et al., 2009). (300718)

MalaCards based summary : Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset, also known as rbmx1b, is related to reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset. An important gene associated with Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include skeletal muscle, and related phenotypes are short neck and scoliosis

UniProtKB/Swiss-Prot : 75 Reducing body myopathy, X-linked 1B, with late childhood or adult onset: A rare myopathy clinically characterized by rapidly progressive muscular weakness, and pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies.

Related Diseases for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

Diseases related to Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset 10.9

Symptoms & Phenotypes for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck
hyperextended neck

Respiratory:
respiratory insufficiency due to muscle weakness
most patients become ventilator-dependent

Skeletal:
joint contractures

Cardiovascular Heart:
dilated cardiomyopathy (less common)

Skeletal Spine:
scoliosis
kyphosis
lordosis
rigid spine
decreased spinal mobility
more
Muscle Soft Tissue:
hyporeflexia
increased fiber size variation
internal nuclei
muscle weakness, proximal, progressive
skeletal muscle biopsy shows reducing bodies
more
Laboratory Abnormalities:
increased serum creatine kinase

Chest Ribs Sternum Clavicles And Scapulae:
winging of the scapulae


Clinical features from OMIM:

300718

Human phenotypes related to Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 scoliosis 32 HP:0002650
3 kyphosis 32 HP:0002808
4 hyperlordosis 32 HP:0003307
5 flexion contracture 32 HP:0001371
6 respiratory insufficiency due to muscle weakness 32 HP:0002747
7 elevated serum creatine phosphokinase 32 HP:0003236
8 hyporeflexia 32 HP:0001265
9 spinal rigidity 32 HP:0003306
10 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
11 frequent falls 32 HP:0002359
12 proximal muscle weakness 32 HP:0003701
13 increased variability in muscle fiber diameter 32 HP:0003557

Drugs & Therapeutics for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

Search Clinical Trials , NIH Clinical Center for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset

Genetic Tests for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

Anatomical Context for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

MalaCards organs/tissues related to Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset:

41
Skeletal Muscle

Publications for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

Variations for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

UniProtKB/Swiss-Prot genetic disease variations for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset:

75
# Symbol AA change Variation ID SNP ID
1 FHL1 p.Cys153Arg VAR_046001 rs122458144
2 FHL1 p.Cys153Tyr VAR_046002 rs122458145
3 FHL1 p.Cys150Ser VAR_075355

ClinVar genetic disease variations for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FHL1 NM_001159702.2(FHL1): c.457T> C (p.Cys153Arg) single nucleotide variant Pathogenic rs122458144 GRCh37 Chromosome X, 135290076: 135290076
2 FHL1 NM_001159702.2(FHL1): c.457T> C (p.Cys153Arg) single nucleotide variant Pathogenic rs122458144 GRCh38 Chromosome X, 136207917: 136207917
3 FHL1 NM_001159702.2(FHL1): c.458G> A (p.Cys153Tyr) single nucleotide variant Pathogenic rs122458145 GRCh37 Chromosome X, 135290077: 135290077
4 FHL1 NM_001159702.2(FHL1): c.458G> A (p.Cys153Tyr) single nucleotide variant Pathogenic rs122458145 GRCh38 Chromosome X, 136207918: 136207918
5 FHL1 NM_001159702.2(FHL1): c.310T> C (p.Cys104Arg) single nucleotide variant Pathogenic rs122459147 GRCh37 Chromosome X, 135289328: 135289328
6 FHL1 NM_001159702.2(FHL1): c.310T> C (p.Cys104Arg) single nucleotide variant Pathogenic rs122459147 GRCh38 Chromosome X, 136207169: 136207169
7 FHL1 FHL1, 9-BP DEL, NT451 deletion Pathogenic

Expression for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

Search GEO for disease gene expression data for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset.

Pathways for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

GO Terms for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

Sources for Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult...

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
Content
Loading form....