RBMX1A
MCID: RDC016
MIFTS: 22

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 57 74
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe 74 29 6
Rbmx1a 57 74
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:



External Ids:

OMIM 57 300717
MeSH 44 D009135

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 flexion contracture and respiratory insufficiency due to muscle weakness

UniProtKB/Swiss-Prot : 74 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 11.3

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:

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

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

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...

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

# Title Authors PMID Year
1
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. 8 71
19181672 2009
2
Novel FHL1 mutations in fatal and benign reducing body myopathy. 8 71
19171836 2009
3
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. 8 71
18274675 2008
4
Fatal reducing body myopathy. Ultrastructural and immunohistochemical observations. 8 71
7722535 1995
5
Unfolded protein response and aggresome formation in hereditary reducing-body myopathy. 8
17099882 2007
6
Reducing body myopathy. 8
4117299 1972

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

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 GRCh37 Pos GRCh38 Pos
1 FHL1 NM_001159699.2(FHL1): c.415C> T (p.His139Tyr) single nucleotide variant Pathogenic rs122458142 X:135289986-135289986 X:136207827-136207827
2 FHL1 NM_001159699.2(FHL1): c.443G> T (p.Cys148Phe) single nucleotide variant Pathogenic rs122458143 X:135290014-135290014 X:136207855-136207855
3 FHL1 NM_001159699.2(FHL1): c.497G> A (p.Cys166Tyr) single nucleotide variant Pathogenic rs122459146 X:135290068-135290068 X:136207909-136207909
4 FHL1 NM_001159699.2(FHL1): c.416A> T (p.His139Leu) single nucleotide variant Pathogenic rs267606812 X:135289987-135289987 X:136207828-136207828
5 FHL1 NM_001159699.2(FHL1): c.417C> G (p.His139Gln) single nucleotide variant Pathogenic rs267606813 X:135289988-135289988 X:136207829-136207829

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

74
# 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

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...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
40 LOVD
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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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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