APMR1
ARAlopecia-mental retardation syndrome
Primary Disease Associations & Inheritance
?Alopecia-intellectual disability syndrome 1MIM #203650
AR
Clinical Summary— APMR1
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/APMR1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
APMR1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Commonly Associated Disorders with Complete Scalp Alopecia in Early Childhood: A Review
Rand MR et al.·Int J Trichology
2023Review
Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic LSS variants
Kang Q et al.·Front Neurosci
2024
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature
Elaraby NM et al.·J Mol Neurosci
2022Review
Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.
Wali A et al.·Ann Hum Genet
2007
Genetic dissection of two Pakistani families with consanguineous localized autosomal recessive hypotrichosis (LAH)
Abbas S et al.·Iran J Basic Med Sci
2014
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
Alopecia-mental retardation syndrome: Molecular genetics of a rare neuro-dermal disorder.
Muzammal M et al.·Ann Hum Genet
2021Review
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
External Resources
Links to major genomics databases and tools