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lethal arthrogryposis-anterior horn cell disease syndrome (LAAHD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lethal arthrogryposis-anterior horn cell disease syndrome

MONDO:0012750

Also known as:LAAHDVuopala diseasecongenital arthrogryposis with anterior horn cell disease

Overview

GeneticsAutosomal recessive · GLE1 (chr 9)

ResearchLimited published research (6 articles)

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 rarely findings: Dystonia, Seizure, Microcephaly, and Brain shrinkage (cerebral atrophy). 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Mutism, Peripheral axonal neuropathy, Inability to walk

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.

GLE1 encodes GLE1 RNA export mediator (698 aa). Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC) Highest expression in Testis (66.4 TPM) and Cells EBV-transformed lymphocytes (52.3 TPM).

Lethal arthrogryposis-anterior horn cell disease syndrome is associated with mutations in the GLE1 gene on chromosome 9.

GLE1 is classified as a druggable target (Transporter category) with score 26.1.

Diagnosis

Genetic testing for GLE1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 lethal arthrogryposis-anterior horn cell disease syndrome.

6 publications have been identified in PubMed for lethal arthrogryposis-anterior horn cell disease syndrome. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (33%), and Basic Science / Preclinical (17%).

Recent Publications

Civit A (2026). [PMID: 41230573](https://pubmed.ncbi.nlm.nih.gov/41230573/). *Am J Med Genet A*. [Case Report / Case Series]
Haliloğlu G (2025). [PMID: 40356365](https://pubmed.ncbi.nlm.nih.gov/40356365/). *J Neuromuscul Dis*. [Review / Meta-Analysis]
Krygier M (2025). [PMID: 40519116](https://pubmed.ncbi.nlm.nih.gov/40519116/). *Am J Med Genet A*. [Case Report / Case Series]
Zárybnický T (2025). [PMID: 40674274](https://pubmed.ncbi.nlm.nih.gov/40674274/). *FEBS J*. [Basic Science / Preclinical]
Fare CM (2024). [PMID: 38383349](https://pubmed.ncbi.nlm.nih.gov/38383349/). *Nucleus*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 2:27 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611890

Orphanet

European rare disease database

Orphanet:53696

GARD

Genetic and Rare Diseases Info Center

GARD:16658

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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lethal arthrogryposis-anterior horn cell disease syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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