Klinefelter syndrome
SaudiVarKB evidence summary derived from retained literature mentions.
17Phenotype mentions
17Publications
26Associated gene records
2Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| CD40 | HGNC:11919 | 1 | 1 |
| G6PD | HGNC:4057 | 1 | 1 |
| AGL | HGNC:321 | 1 | 1 |
| ABCB1 | HGNC:40 | 1 | 1 |
| LDLR | HGNC:6547 | 1 | 1 |
| BRAF | HGNC:1097 | 1 | 1 |
| ASPM | HGNC:19048 | 1 | 1 |
| ATP8B1 | HGNC:3706 | 1 | 1 |
| AGA | HGNC:318 | 1 | 1 |
| EGFR | HGNC:3236 | 1 | 1 |
| THPO | HGNC:11795 | 1 | 1 |
| CD44 | HGNC:1681 | 1 | 1 |
| FTO | HGNC:24678 | 1 | 1 |
| ZFP36 | HGNC:12862 | 1 | 1 |
| LAMP3 | HGNC:14582 | 1 | 1 |
| KIF2A | HGNC:6318 | 1 | 1 |
| RPL27A | HGNC:10329 | 1 | 1 |
| CD200R1 | HGNC:24235 | 1 | 1 |
| STAMBP | HGNC:16950 | 1 | 1 |
| CD226 | HGNC:16961 | 1 | 1 |
| IDH1 | HGNC:5382 | 1 | 1 |
| IDH2 | HGNC:5383 | 1 | 1 |
| OGT | HGNC:8127 | 1 | 1 |
| TMEM70 | HGNC:26050 | 1 | 1 |
| XIST | HGNC:12810 | 1 | 1 |
| NRF1 | HGNC:7996 | 1 | 1 |
Associated variant records
Co-mentioned in the same publicationsAssociated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 2 | 2 |
| Population record | Cohort 3 | 1 | 1 |
| Saudi Arabia | Cohort 88 | 1 | 1 |
| Saudi Arabia · Asir | — | 1 | 1 |
Supporting publications
17 records- 2025Global Practice Patterns and Variations in the Medical and Surgical Management of Non-Obstructive Azoospermia: Results of a World-Wide Survey, Guidelines and Expert Recommendations.The world journal of men's health1 mentions
- 2025Detection of Chromosomal Aneuploidy Using Exome Sequencing.Genes1 mentions
- 2024Generation of iPSC Cell Lines from Patients with Sex Chromosome Aneuploidies.Methods in molecular biology (Clifton, N.J.)1 mentions
- 2024Marginal zone lymphoma of mucosa associated lymphoid tissue-lymphoma of the lacrimal gland in a young patient with Klinefelter syndrome: a case report.Journal of medical case reports1 mentions
- 2023A transcriptomic signature of X chromosome overdosage in Saudi Klinefelter syndrome induced pluripotent stem cells.Endocrine connections1 mentions
- 2021Generation of an iPSC cohort of isogenic iPSC lines (46-XY and 47-XXY) from a non-mosaic Klinefelter Syndrome patient (47-XXY) (KAUSTi008-A, KAUSTi008-B, KAUSTi008-C, KAUSTi008-D, KAUSTi008-E, KAUSTi008-F, KAUSTi008-G).Stem cell research1 mentions
- 2021Androgenetic Alopecia in a Patient with Klinefelter Syndrome: Case Report and Literature Review.Skin appendage disorders1 mentions
- 2021Pseudoautosomal Region 1 Overdosage Affects the Global Transcriptome in iPSCs From Patients With Klinefelter Syndrome and High-Grade X Chromosome Aneuploidies.Frontiers in cell and developmental biology1 mentions
- 2020Establishment of iPSC lines from a high-grade Klinefelter Syndrome patient (49-XXXXY) and two genetically matched healthy relatives (KAUSTi003-A, KAUSTi004-A, KAUSTi004-B, KAUSTi005-A, KAUSTi005-B, KAUSTi005-C).Stem cell research1 mentions
- 2020Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B).Stem cell research1 mentions
- 2020Derivation of two naturally isogenic iPSC lines (KAUSTi006-A and KAUSTi006-B) from a mosaic Klinefelter Syndrome patient (47-XXY/46-XY).Stem cell research1 mentions
- 2020Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23).Stem cell research1 mentions
- 2019Genetic investigations on causes of male infertility in Western Saudi Arabia.Andrologia1 mentions
- 2016The Klinefelter syndrome: current management and research challenges.Andrology1 mentions
- 2016Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.BMC genomics1 mentions
- 2014Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome.European journal of medical genetics1 mentions
- 2014New approaches to the Klinefelter syndrome.Annales d'endocrinologie1 mentions