eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| serkal syndrome | ||||
| Disease ID | 1945 |
|---|---|
| Disease | serkal syndrome |
| Definition | An autosomal recessive condition characterized by female to male sex reversal and kidney, adrenal, and lung dygenesis, due to mutation(s) in the WNT4 gene. |
| Synonym | 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs |
| Orphanet | |
| OMIM | |
| UMLS | C2678492 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) WNT4 | 1p36.12 |
| Disease ID | 1945 |
|---|---|
| Disease | serkal syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0000202 | Oral cleft HP:0000047 | Hypospadias HP:0000834 | Abnormality of the adrenal glands HP:0004794 | Malrotation of small bowel HP:0002089 | Pulmonary hypoplasia HP:0001629 | Ventricular septal defect HP:0030680 | Abnormality of cardiovascular system morphology HP:0005944 | Bilateral pulmonary agenesis HP:0000104 | Renal agenesis HP:0001562 | Oligohydramnios HP:0012245 | Sex reversal HP:0000036 | Abnormality of the penis HP:0000776 | Congenital diaphragmatic hernia HP:0005343 | Hypoplasia of the bladder HP:0001642 | Pulmonic stenosis HP:0001510 | Growth delay HP:0011743 | Adrenal gland agenesis |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1945 |
|---|---|
| Disease | serkal 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908651 | NA | 54361 | WNT4 | umls:C2678492 | CLINVAR | NA | 0.48 | NA | WNT4 | 1 | 22121549 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0030680 | Abnormality of cardiovascular system morphology | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0012245 | Sex reversal | MP:0002995 | primary sex reversal | gonad type is not consistent with chromosomal sex |
| HP:0000202 | Oral cleft | MP:0009890 | cleft secondary palate | congenital fissure of the tissues normally uniting to form the secondary palate |
| HP:0000776 | Congenital diaphragmatic 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:0005944 | Bilateral lung agenesis | MP:0010995 | abnormal lung alveolus development | anomaly in the formation of the sacs for holding air in the lungs, which are formed by the terminal dilation of air passageways |
| HP:0000036 | Abnormality of the penis | MP:0009352 | impaired spacing of implantation sites | in organisms which give birth to multiple offspring in one litter, blastocysts fail to implant at intervals conducive to the formation of a normal enveloping membrane or decidua for each conceptus from the epithelial tissue of the endometrium lining of th |
| HP:0005343 | Hypoplasia of the bladder | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0001642 | Pulmonic stenosis | MP:0010449 | heart right ventricle outflow tract stenosis | abnormal constriction or narrowing of part of the anteriosuperior, smooth-walled portion of the cavity of the right ventricle, beginning at the supraventricular crest and terminating in the pulmonary trunk |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0011743 | Adrenal gland agenesis | MP:0002909 | abnormal adrenal gland physiology | any functional anomaly of the surparenal gland, including the ability to produce and secrete hormones |
| HP:0002089 | Pulmonary hypoplasia | MP:0013193 | sebaceous gland hypoplasia | underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells |
| HP:0004794 | Malrotation of small bowel | MP:0008278 | failure of sternum ossification | failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone |
| HP:0000834 | Abnormality of the adrenal glands | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
Mapped by homologous gene(Total Items:17) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000834 | Abnormality of the adrenal glands | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000047 | Hypospadias | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0030680 | Abnormality of cardiovascular system morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000202 | Oral cleft | 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:0004794 | Malrotation of small bowel | MP:0013242 | abnormal amino acid metabolism | any anomaly in the chemical reactions and pathways involving an amino acid, including metabolic, catabolic and biosynthetic processes |
| HP:0005944 | Bilateral lung agenesis | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0000776 | Congenital diaphragmatic hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0005343 | Hypoplasia of the bladder | MP:0013349 | small Rathke's pouch | reduced size of the pouch of ectoderm which grows out from the upper surface of the embryonic stomodeum and gives rise to the anterior and intermediate lobes of the pituitary gland |
| HP:0001510 | Growth delay | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002089 | Pulmonary hypoplasia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001642 | Pulmonic stenosis | MP:0020040 | decreased bone ossification | decrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0011743 | Adrenal gland agenesis | MP:0013312 | absent ovary capsule | missing the tough, fibrous capsule surrounding each ovary |
| HP:0000104 | Renal agenesis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001562 | Oligohydramnios | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001629 | Ventricular septal defect | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0012245 | Sex reversal | 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:0000036 | Abnormality of the penis | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| Disease ID | 1945 |
|---|---|
| Disease | serkal syndrome |
| Case | (Waiting for update.) |