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alopecia-intellectual disability syndrome 1 (APMR) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

alopecia-intellectual disability syndrome 1

MONDO:0021035

Also known as:APMRAPMR1alopecia-mental retardation syndrome 1

Overview

GeneticsAutosomal recessive · AHSG (chr 3)

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: Alopecia and Severe intellectual disability; and common findings: Alopecia universalis.

Organ System	Phenotype Count	Example Features
Skin	2	Alopecia universalis, Alopecia
Brain and nerves

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.

AHSG encodes alpha 2-HS glycoprotein (367 aa). Promotes endocytosis, possesses opsonic properties and influences the mineral phase of bone. Shows affinity for calcium and barium ions Highest expression in Liver (1,346 TPM) and Testis (3.2 TPM).

Alopecia-intellectual disability syndrome 1 is associated with mutations in the AHSG gene on chromosome 3.

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

Diagnosis

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

Prognosis

Phenotype severity distribution: 2 always present features, 1 common feature.

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:52 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:203650

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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alopecia-intellectual disability syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

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