| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (40.2%) |
15770132 |
Case report: Y;6 translocation with deletion of 6p. Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. Clin Dysmorphol. 2005;14(2):93-6. |
| Dolichocephaly Depressed nasal bridge | ||
| Bone and Bones Child Chromosome Banding Chromosome Deletion Chromosomes, Human, Pair 6 Chromosomes, Human, Y Cleft Palate Congenital Heart Defects Dandy-Walker Syndrome Developmental Disabilities Differential Diagnosis Facies Fluorescent in Situ Hybridization Genes, sry Genotype Growth Disorders Hearing Loss, Bilateral Homo sapiens Male Phenotype Sex Chromosome Disorders Syndrome United States | ||
| 2 (28.9%) |
29575617 |
Novel RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype. Tallapaka K, Venugopal V, Dalal A, Aggarwal S. Am J Med Genet A. 2018;176(4):1006-1010. |
| Palmoplantar hyperkeratosis | ||
| CTNNB1 RSPO1 SRY | ||
| Adult DNA Mutational Analysis Disorders of Sex Development Females Genetic Association Studies Homo sapiens Keratoderma, Palmoplantar Male Mutation Phenotype Testicular Diseases Thrombospondins | ||
| 3 (4.0%) |
30171759 |
[Genetic analysis of a case of 46, XX, SRY－ male syndrome]. Wang R. Zhonghua Nan Ke Xue. 2018;24(5):431-435. |
| Abnormal sex determination | ||
| AZF1 FGF13 SRY | ||
| 46, XX Testicular Disorders of Sex Development Chromosome Aberrations Chromosome Banding Homo sapiens Male Phenotype Sex-Determining Region Y Protein | ||
| 3 (4.0%) |
27124672 |
Sertoli cell only syndrome with ambiguous genitalia. Gurbuz F, Ceylaner S, Erdogan S, Topaloglu AK, Yuksel B. J Pediatr Endocrinol Metab. 2016;29(7):849-52. |
| Ambiguous genitalia | ||
| SRY | ||
| 46, XX Testicular Disorders of Sex Development Chromosomes, Human, X Chromosomes, Human, Y Cytogenetic Analysis Fluorescent in Situ Hybridization Genes, sry Homo sapiens Infant Male | ||
| 3 (4.0%) |
26761113 |
XX testicular disorder of sex differentiation: case report. Bianco B, Christofolini DM, Ghersel FR, Gava MM, Barbosa CP. Einstein (Sao Paulo). 2011;9(3):394-6. |
| Gynecomastia | ||
| 3 (4.0%) |
26260363 (4581739) |
A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review. Xia XY, Zhang C, Li TF, Wu QY, Li N, Li WW, Cui YX, Li XJ, Shi YC. Mol Med Rep. 2015;12(4):5659-64. |
| Azoospermia | ||
| DMRT1 FGF9 NR0B1 RSPO1 SOX3 SOX9 SPRY2 SRY | ||
| 46, XX Testicular Disorders of Sex Development Adult Chromosomal Duplication Gene Expression Homo sapiens Male SOX9 Transcription Factor Sexual Development Testis | ||
| 3 (4.0%) |
25529318 (4289540) |
46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature. Li TF, Wu QY, Zhang C, Li WW, Zhou Q, Jiang WJ, Cui YX, Xia XY, Shi YC. BMC Urol. 2014;14:104. |
| Azoospermia | ||
| AZF1 NR0B1 ROCK1 RSPO1 SOX10 SOX3 SOX9 SRY | ||
| 46, XX Testicular Disorders of Sex Development Fluorescent in Situ Hybridization Gene Deletion Genes, sry Homo sapiens Immunohistochemistry Male Phenotype Testis Vimentin | ||
| 3 (4.0%) |
25102093 |
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements. Nakashima S, Ohishi A, Takada F, Kawamura H, Igarashi M, Fukami M, Ogata T. J Hum Genet. 2014;59(10):549-53. |
| Hypospadias | ||
| 46, XX Testicular Disorders of Sex Development Adult Child, Preschool Chromosomes, Human, X Chromosomes, Human, Y DNA End-Joining Repair Females Genes, sry Homo sapiens Homologous Recombination Infant Infant, Newborn Male Pregnancy Young Adult | ||
| 3 (4.0%) |
21705820 |
46,XX T testicular disorder of sex development. Case report. Pastor Guzman JM, Pastor Navarro H, Quintanilla Mata ML, Carrion Lopez P, Martinez Ruiz J, Martinez Sanchiz C, Peran Teruel M, Virseda Rodriguez JA. Arch Esp Urol. 2011;64(5):468-73. |
| Gynecomastia | ||
| SRY | ||
| 46, XX Testicular Disorders of Sex Development Azoospermia Gonadal Steroid Hormones Homo sapiens Male Prosthesis Implantation Testis Young Adult | ||
| 3 (4.0%) |
21340153 |
46,XX male - testicular disorder of sexual differentiation (DSD): hormonal, molecular and cytogenetic studies. Alves C, Braid Z, Coeli FB, Mello MP. Arq Bras Endocrinol Metabol. 2010;54(8):685-9. |
| Ambiguous genitalia | ||
| DMRT1 NR0B1 NR5A1 SOX9 SRY TSPY1 WNT4 | ||
| 46, XX Testicular Disorders of Sex Development Chromosomes, Human, Pair 9 Genes, sry Heterozygote Homo sapiens Infant Male Mutation |
Total: 4
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000026 | Male hypogonadism | Very frequent (99-80%) |
| HP:0000062 | Ambiguous genitalia | Very frequent (99-80%) |
| HP:0000147 | Polycystic ovaries | Very frequent (99-80%) |
| HP:0008734 | Decreased testicular size | Very frequent (99-80%) |
Total: 8
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000062 | Ambiguous genitalia | 3 |
| HP:0000789 | Infertility | 3 |
| HP:0000808 | Penoscrotal hypospadias | 2 |
| HP:0003251 | Male infertility | 2 |
| HP:0000027 | Azoospermia | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000982 | Palmoplantar keratoderma | 1 |
| HP:0012245 | Sex reversal | 1 |