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LAMP3 and Klinefelter syndrome are reported together in 1 article.
Gene
LAMP3
- HGNC
- HGNC:14582
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Klinefelter syndrome
19articles
19mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.
PMID 24462885 | DOI 10.1016/j.ejmg.2013.12.007 · European journal of medical genetics · 2014 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | LAMP3 | “In addition, haploinsufficiency of LAMP3, a lymphoid and dendritic cell expressed protein that is implicated in bacterial and viral infections, pulmonary surfactant protein transport and amelogenin degradation, may be a novel cause for the immune deficiency, lung disease and dental abnormalities respectively as seen in these patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | Klinefelter syndrome | “We now report a new 9 ½ years old Caucasian boy with a 2 Mb deletion of the same genomic region in combination with Klinefelter syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | THPO | “Consistent with two of three previously described patients, our patient also presents with thrombocytopenia, which we postulate is caused by haploinsufficiency of THPO.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “He presented with facial dysmorphism, developmental delay, Asperger syndrome, thrombocytopenia, recurrent infections and hypogammaglobulinemia.” | 0.98 | phenotype_alias_lexicon_v2 |