MCID: RDC016
MIFTS: 19

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

Categories: Genetic 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 57 75
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 75 29 6
Rbmx1a 57 75
Reducing Body Myopathy, X-Linked 1a, Severe, Infantile or Early Childhood Onset 57
Myopathy, Reducing Body, X-Linked, Severe Early-Onset 13

Characteristics:

OMIM:

57
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:

32
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 : 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, 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 hyporeflexia and areflexia

UniProtKB/Swiss-Prot : 75 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 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 11.0

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hyporeflexia 32 HP:0001265
2 areflexia 32 HP:0001284
3 flexion contracture 32 HP:0001371
4 respiratory insufficiency due to muscle weakness 32 HP:0002747
5 elevated serum creatine phosphokinase 32 HP:0003236
6 increased variability in muscle fiber diameter 32 HP:0003557
7 proximal muscle weakness 32 HP:0003701

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 29 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:

41
Skeletal Muscle

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

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:

75
# 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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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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