RBMX1B
MCID: RDC012
MIFTS: 22

Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset (RBMX1B)

Categories: Genetic diseases, Rare 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 72 6
Rbmx1b 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
reducing body myopathy, x-linked 1b, with late childhood or adult onset:
Inheritance x-linked inheritance
Onset and clinical course rapidly progressive


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) (Updated 05-Apr-2021)

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 dilated cardiomyopathy and scoliosis

UniProtKB/Swiss-Prot : 72 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 in the Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset family:

Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset

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...

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

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 occasional (7.5%) HP:0001644
2 scoliosis 31 HP:0002650
3 kyphosis 31 HP:0002808
4 short neck 31 HP:0000470
5 hyperlordosis 31 HP:0003307
6 flexion contracture 31 HP:0001371
7 elevated serum creatine kinase 31 HP:0003236
8 spinal rigidity 31 HP:0003306
9 respiratory insufficiency due to muscle weakness 31 HP:0002747
10 hyporeflexia 31 HP:0001265
11 proximal muscle weakness 31 HP:0003701
12 frequent falls 31 HP:0002359
13 increased variability in muscle fiber diameter 31 HP:0003557

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
lordosis
rigid spine
decreased spinal mobility
more
Respiratory:
respiratory insufficiency due to muscle weakness
most patients become ventilator-dependent

Skeletal:
joint contractures

Cardiovascular Heart:
dilated cardiomyopathy (less common)

Head And Neck Neck:
short neck
hyperextended neck

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 (Updated 05-Apr-2021)

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:

40
Skeletal Muscle

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

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

# Title Authors PMID Year
1
Novel FHL1 mutations in fatal and benign reducing body myopathy. 6 57
19171836 2009
2
Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). 6 57
18952429 2008
3
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. 57 6
18274675 2008
4
Familial reducing body myopathy. 57 6
16919903 2007
5
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy. 57
17099882 2007
6
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathy. 57
11571700 2001
7
Reducing bodies in distal myopathy with rimmed vacuole formation. 57
7709723 1995

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FHL1 FHL1, 9-BP DEL, NT451 Deletion Pathogenic 11563 GRCh37:
GRCh38:
2 FHL1 NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) SNV Pathogenic 11552 rs122458144 GRCh37: X:135290076-135290076
GRCh38: X:136207917-136207917
3 FHL1 NM_001159699.2(FHL1):c.506G>A (p.Cys169Tyr) SNV Pathogenic 11553 rs122458145 GRCh37: X:135290077-135290077
GRCh38: X:136207918-136207918
4 FHL1 NM_001159699.2(FHL1):c.358T>C (p.Cys120Arg) SNV Pathogenic 11555 rs122459147 GRCh37: X:135289328-135289328
GRCh38: X:136207169-136207169
5 FHL1 NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) SNV Likely pathogenic 689729 rs1603271659 GRCh37: X:135290067-135290067
GRCh38: X:136207908-136207908

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

72
# 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

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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