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congenital myopathy 11 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myopathy 11

MONDO:0859264

Overview

GeneticsAutosomal recessive · HACD1 (chr 10)

OnsetNEONATAL

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: Low muscle tone (hypotonia), Areflexia, Motor delay, and Gowers sign and others; and very common findings: Weakness of facial musculature. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Low muscle tone (hypotonia), Gowers sign, Weakness of facial musculature

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.

HACD1 encodes 3-hydroxyacyl-CoA dehydratase 1 (288 aa). Catalyzes the third of the four reactions of the long-chain fatty acids elongation cycle. Highest expression in Artery Tibial (40.1 TPM) and Artery Aorta (37.9 TPM).

Congenital myopathy 11 is associated with mutations in the HACD1 gene on chromosome 10.

The HACD1 protein participates in PTPLs dehydrate VLC3HA-CoA to VLCTDA-CoA pathway.

HACD1 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for HACD1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for congenital myopathy 11 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 1 very common feature, 3 common features.

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 congenital myopathy 11.

95 publications have been identified in PubMed for congenital myopathy 11. Kisho has analyzed 67 by research type. Research spans Epidemiology / Natural History (34%), Case Report / Case Series (19%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Disease patterns and progression	23	34%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619967

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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

congenital myopathy 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital myopathy 11

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications