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myopathy, reducing body, X-linked, childhood-onset - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, reducing body, X-linked, childhood-onset

MONDO:0010415

Also known as:RBMX1Breducing body myopathy, X-linked 1B, with late childhood or adult onset

Overview

GeneticsX-linked · FHL1 (chr X)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Sideways curvature of the spine (scoliosis), Flexion contracture, Muscle fiber intracytoplasmic reducing inclusion bodies, and Difficulty running and others; and common findings: Enlarged and weakened heart (dilated cardiomyopathy). 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	6	Flexion contracture, Muscle fiber intracytoplasmic reducing inclusion bodies, Difficulty breathing due to muscle weakness (respiratory insufficiency due to muscle weakness)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FHL1 encodes four and a half LIM domains 1 (323 aa). May have an involvement in muscle development or hypertrophy Highest expression in Muscle Skeletal (2,025 TPM) and Artery Tibial (1,151 TPM).

Myopathy, reducing body, X-linked, childhood-onset is associated with mutations in the FHL1 gene on chromosome X.

The FHL1 protein participates in Complement cascade pathway.

FHL1 is classified as a druggable target with score 17.4.

Diagnosis

Genetic testing for FHL1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myopathy, reducing body, X-linked, childhood-onset has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 always present features, 1 common feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for myopathy, reducing body, X-linked, childhood-onset.

156 publications have been identified in PubMed for myopathy, reducing body, X-linked, childhood-onset. Research spans Epidemiology / Natural History (68%), Review / Meta-Analysis (11%), and Basic Science / Preclinical (9%).

Research Type	Count	% of Total
Disease patterns and progression	106	68%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:36 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300718

GARD

Genetic and Rare Diseases Info Center

GARD:15262

Questions for Your Care Team

→Should female family members consider carrier screening for FHL1?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

myopathy, reducing body, X-linked, childhood-onset

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myopathy, reducing body, X-linked, childhood-onset

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications