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short stature due to primary acid-labile subunit deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

short stature due to primary acid-labile subunit deficiency

MONDO:0014420

Also known as:acid-labile subunit, deficiency ofACLSDacid-labile SUBUNIT deficiency

Overview

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.

GeneticsIGFALS (chr 16)

ResearchLimited published research (7 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 always present findings: Reduced insulin like growth factor binding protein acid labile subunit concentration. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Hormones	4	Decreased serum insulin-like growth factor 1, Insulin insensitivity, Reduced insulin like growth factor binding protein acid labile subunit concentration

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.

IGFALS encodes insulin like growth factor binding protein acid labile subunit (605 aa). Involved in protein-protein interactions that result in protein complexes, receptor-ligand binding or cell adhesion Highest expression in Liver (65.2 TPM) and Stomach (9.8 TPM).

Short stature due to primary acid-labile subunit deficiency is associated with mutations in the IGFALS gene on chromosome 16.

IGFALS is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

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

Biomarker and diagnostic research for short stature due to primary acid-labile subunit deficiency has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature.

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 short stature due to primary acid-labile subunit deficiency.

7 publications have been identified in PubMed for short stature due to primary acid-labile subunit deficiency. Research spans Review / Meta-Analysis (29%), Case Report / Case Series (29%), and Other (14%).

Recent Publications

Hu Z (2026). [PMID: 41608982](https://pubmed.ncbi.nlm.nih.gov/41608982/). *Adv Sci (Weinh)*. [Diagnostic / Biomarker]
Vilmann L (2026). [PMID: 41083160](https://pubmed.ncbi.nlm.nih.gov/41083160/). *J Clin Endocrinol Metab*. [Clinical Trial Publication]
Wang Y (2025). [PMID: 41811044](https://pubmed.ncbi.nlm.nih.gov/41811044/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
López Montalbán Á (2025). [PMID: 39609241](https://pubmed.ncbi.nlm.nih.gov/39609241/). *Med Clin (Barc)*. [Other]
Hasegawa Y (2025). [PMID: 39777134](https://pubmed.ncbi.nlm.nih.gov/39777134/). *Clin Pediatr Endocrinol*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615961

Orphanet

European rare disease database

Orphanet:140941

GARD

Genetic and Rare Diseases Info Center

GARD:16964

Questions for Your Care Team

→Should I pursue genetic testing for IGFALS, and what would the results mean for my family?
→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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short stature due to primary acid-labile subunit deficiency

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

Questions for Your Care Team

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