eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| persistent mullerian duct syndrome | ||||
| Disease ID | 1098 |
|---|---|
| Disease | persistent mullerian duct syndrome |
| Definition | The presence of Mullerian duct-derived structures in a phenotypically male individual. |
| Synonym | female genital ducts in otherwise normal male hernia uteri inguinale persistent mullerian duct syndrome, types 1 and 2 persistent mullerian duct syndrome, types i and ii persistent müllerian duct syndrome persistent müllerian duct syndrome (disorder) persistent oviduct syndrome pmds pseudohermaphroditism, male internal |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1849930 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0036631 | seminoma | 1 C0019294 | inguinal hernia | 1 C0855211 | testicular seminoma | 1 C0006142 | breast cancer | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:9) |
| Locus | (Waiting for update.) |
| Disease ID | 1098 |
|---|---|
| Disease | persistent mullerian duct syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0000022 | Abnormality of male internal genitalia HP:0000023 | Inguinal hernia HP:0008689 | Bilateral cryptorchidism HP:0003117 | Abnormality of circulating hormone level HP:0003251 | Male infertility |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0012741 | Cryptorchidism, unilateral | 2 HP:0008689 | Bilateral cryptorchidism | 2 HP:0100790 | Hernia | 2 HP:0000028 | Cryptorchidism | 2 HP:0002664 | Neoplasia | 2 HP:0010788 | Testicular neoplasm | 1 HP:0100617 | Testicular seminoma | 1 HP:0003002 | Breast carcinoma | 1 HP:0000023 | Inguinal hernia | 1 HP:0009792 | Teratoma | 1 HP:0100013 | Tumours of the breast | 1 |
| Disease ID | 1098 |
|---|---|
| Disease | persistent mullerian duct syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs149082963 | 8162013 | 268 | AMH | umls:C1849930 | UNIPROT | Biologically, PMDS is heterogeneous: in some cases, bioactive AMH is normally expressed by testicular tissue while, in others, no AMH is produced, suggesting the possibility of an AMH gene mutation, several of which have already been described. | 0.365700279 | 1994 | AMH;MIR4321 | 19 | 2249367 | T | G |
| rs569914235 | 8162013 | 268 | AMH | umls:C1849930 | UNIPROT | Biologically, PMDS is heterogeneous: in some cases, bioactive AMH is normally expressed by testicular tissue while, in others, no AMH is produced, suggesting the possibility of an AMH gene mutation, several of which have already been described. | 0.365700279 | 1994 | AMH;MIR4321 | 19 | 2249699 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003117 | Abnormality of circulating hormone level | MP:0009139 | failure of Mullerian duct regression | failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian |
| HP:0000023 | Inguinal hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0000022 | Abnormality of male internal genitalia | MP:0009139 | failure of Mullerian duct regression | failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian |
| HP:0003251 | Male infertility | MP:0001924 | infertility | inability to produce live offspring |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003117 | Abnormality of circulating hormone level | MP:0009139 | failure of Mullerian duct regression | failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian |
| HP:0000022 | Abnormality of male internal genitalia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0003251 | Male infertility | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0000023 | Inguinal hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| Disease ID | 1098 |
|---|---|
| Disease | persistent mullerian duct syndrome |
| Case | (Waiting for update.) |