RBMX1A
MCID: RDC016
MIFTS: 21

Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset (RBMX1A)

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

MalaCards integrated aliases for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset:

Name: Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset 58 76
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 76 30 6
Rbmx1a 58 76
Reducing Body Myopathy, X-Linked 1a, Severe, Infantile or Early Childhood Onset 58
Myopathy, Reducing Body, X-Linked, Severe Early-Onset 13

Characteristics:

OMIM:

58
Miscellaneous:
rapidly progressive
loss of ambulation
onset in infancy or early childhood (before age 3 years)
death in childhood is frequent due to respiratory failure
see also later childhood-onset form

Inheritance:
x-linked dominant


HPO:

33
reducing body myopathy, x-linked 1a, severe, with infantile or early childhood onset:
Onset and clinical course rapidly progressive
Inheritance x-linked dominant inheritance


Classifications:



Summaries for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

OMIM : 58 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, and a less severe form has onset in late childhood or adulthood (RBMX1B; 300718) (summary by Liewluck et al., 2007 and Shalaby et al., 2009). (300717)

MalaCards based summary : Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset, also known as myopathy, reducing body, x-linked, early-onset, severe, is related to reducing body myopathy, x-linked 1b, with late childhood or adult onset. An important gene associated with Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset is FHL1 (Four And A Half LIM Domains 1). Affiliated tissues include skeletal muscle, and related phenotypes are flexion contracture and respiratory insufficiency due to muscle weakness

UniProtKB/Swiss-Prot : 76 Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood 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. Death in childhood is frequent in the severe form of the disease, due to respiratory failure.

Related Diseases for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

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 1a, Severe, with Infantile or Early Childhood Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 reducing body myopathy, x-linked 1b, with late childhood or adult onset 11.2

Symptoms & Phenotypes for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

Human phenotypes related to Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 33 HP:0001371
2 respiratory insufficiency due to muscle weakness 33 HP:0002747
3 areflexia 33 HP:0001284
4 hyporeflexia 33 HP:0001265
5 proximal muscle weakness 33 HP:0003701
6 increased variability in muscle fiber diameter 33 HP:0003557
7 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
joint contractures

Laboratory Abnormalities:
increased serum creatine kinase

Muscle Soft Tissue:
increased fiber size variation
internal nuclei
hyporeflexia/areflexia
muscle weakness, proximal, progressive
loss of antigravity strength
more
Respiratory:
respiratory insufficiency due to muscle weakness leading to ventilator dependency

Clinical features from OMIM:

300717

Drugs & Therapeutics for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

Search Clinical Trials , NIH Clinical Center for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset

Genetic Tests for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

Genetic tests related to Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset:

# Genetic test Affiliating Genes
1 Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 30 FHL1

Anatomical Context for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

MalaCards organs/tissues related to Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset:

42
Skeletal Muscle

Publications for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

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

# Title Authors Year
1
Novel FHL1 mutations in fatal and benign reducing body myopathy. ( 19171836 )
2009
2
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. ( 19181672 )
2009
3
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. ( 18274675 )
2008
4
Fatal reducing body myopathy. Ultrastructural and immunohistochemical observations. ( 7722535 )
1995

Variations for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

UniProtKB/Swiss-Prot genetic disease variations for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset:

76
# Symbol AA change Variation ID SNP ID
1 FHL1 p.His123Tyr VAR_045999 rs122458142
2 FHL1 p.Cys132Phe VAR_046000 rs122458143
3 FHL1 p.His123Leu VAR_075353 rs267606812
4 FHL1 p.His123Gln VAR_075354 rs267606813

ClinVar genetic disease variations for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FHL1 NM_001159702.2(FHL1): c.367C> T (p.His123Tyr) single nucleotide variant Pathogenic rs122458142 GRCh37 Chromosome X, 135289986: 135289986
2 FHL1 NM_001159702.2(FHL1): c.367C> T (p.His123Tyr) single nucleotide variant Pathogenic rs122458142 GRCh38 Chromosome X, 136207827: 136207827
3 FHL1 NM_001159702.2(FHL1): c.395G> T (p.Cys132Phe) single nucleotide variant Pathogenic rs122458143 GRCh37 Chromosome X, 135290014: 135290014
4 FHL1 NM_001159702.2(FHL1): c.395G> T (p.Cys132Phe) single nucleotide variant Pathogenic rs122458143 GRCh38 Chromosome X, 136207855: 136207855
5 FHL1 NM_001159702.2(FHL1): c.449G> A (p.Cys150Tyr) single nucleotide variant Pathogenic rs122459146 GRCh37 Chromosome X, 135290068: 135290068
6 FHL1 NM_001159702.2(FHL1): c.449G> A (p.Cys150Tyr) single nucleotide variant Pathogenic rs122459146 GRCh38 Chromosome X, 136207909: 136207909
7 FHL1 NM_001159702.2(FHL1): c.368A> T (p.His123Leu) single nucleotide variant Pathogenic rs267606812 GRCh37 Chromosome X, 135289987: 135289987
8 FHL1 NM_001159702.2(FHL1): c.368A> T (p.His123Leu) single nucleotide variant Pathogenic rs267606812 GRCh38 Chromosome X, 136207828: 136207828
9 FHL1 NM_001159702.2(FHL1): c.369C> G (p.His123Gln) single nucleotide variant Pathogenic rs267606813 GRCh37 Chromosome X, 135289988: 135289988
10 FHL1 NM_001159702.2(FHL1): c.369C> G (p.His123Gln) single nucleotide variant Pathogenic rs267606813 GRCh38 Chromosome X, 136207829: 136207829

Expression for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

Search GEO for disease gene expression data for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or Early Childhood Onset.

Pathways for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

GO Terms for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

Sources for Reducing Body Myopathy, X-Linked 1a, Severe, with Infantile or...

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