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leukodystrophy, hypomyelinating, 17 (HLD17) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 17

MONDO:0054817

Also known as:HLD17

Overview

GeneticsAutosomal recessive · AIMP2 (chr 7)

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: Inability to walk, Seizure, Overactive reflexes (hyperreflexia), and Microcephaly and others; and common findings: Anteverted nares, Flexion contracture, Thick vermilion border, and Low hanging columella and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Inability to walk, Seizure, Profound intellectual disability

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.

AIMP2 encodes aminoacyl tRNA synthetase complex interacting multifunctional protein 2 (320 aa). Required for assembly and stability of the aminoacyl-tRNA synthase complex. Highest expression in Muscle Skeletal (50.6 TPM) and Testis (45.1 TPM).

Leukodystrophy, hypomyelinating, 17 is caused by mutations in the AIMP2 gene on chromosome 7.

AIMP2 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for AIMP2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features, 9 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 leukodystrophy, hypomyelinating, 17.

14 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 17. Research spans Case Report / Case Series (54%), Basic Science / Preclinical (31%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Patient case studies	7	54%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618006

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

leukodystrophy, hypomyelinating, 17

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

leukodystrophy, hypomyelinating, 17

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