eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| renal cysts and diabetes syndrome | ||||
| Disease ID | 1078 |
|---|---|
| Disease | renal cysts and diabetes syndrome |
| Definition | A condition associated with mutation(s) in the HNF1B gene or TCF2, characterized by renal cysts and early onset non-insulin dependent diabetes. |
| Synonym | cakut with diabetes congenital anomalies of the kidney and urinary tract with diabetes familial hypoplastic, glomerulocystic kidney familial hypoplastic, glomerulocystic kidney (disorder) fjhn, atypical glomerulocystic kidney disease, hypoplastic type glomerulocystic kidney, familial hypoplastic hyperuricemic nephropathy, familial juvenile, atypical maturity-onset diabetes of the young, type 5 maturity-onset diabetes of the young, type 5 (disorder) mody5 rcad rcad syndrome renal cysts and diabetes syndrome (disorder) |
| Orphanet | |
| OMIM | |
| UMLS | C0431693 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 1078 |
|---|---|
| Disease | renal cysts and diabetes syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:29) HP:0001263 | Global developmental delay HP:0012093 | Abnormality of endocrine pancreas physiology HP:0000365 | Hearing impairment HP:0000083 | Renal insufficiency HP:0000047 | Hypospadias HP:0001994 | Renal Fanconi syndrome HP:0100820 | Glomerulopathy HP:0000303 | Mandibular prognathia HP:0012873 | Absent vas deferens HP:0005584 | Renal cell carcinoma HP:0005692 | Joint hyperflexibility HP:0000104 | Renal agenesis HP:0012092 | Abnormality of exocrine pancreas physiology HP:0000952 | Jaundice HP:0000003 | Multicystic kidney dysplasia HP:0000813 | Bicornuate uterus HP:0100800 | Aplasia/Hypoplasia of the pancreas HP:0001397 | Hepatic steatosis HP:0002149 | Hyperuricemia HP:0002021 | Pyloric stenosis HP:0009715 | Papillary cystadenoma of the epididymis HP:0000085 | Horseshoe kidney HP:0001959 | Polydipsia HP:0001249 | Intellectual disability HP:0001919 | Acute kidney injury HP:0002910 | Elevated hepatic transaminases HP:0001369 | Arthritis HP:0000819 | Diabetes mellitus HP:0000821 | Hypothyroidism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 1078 |
|---|---|
| Disease | renal cysts and diabetes syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| 17q12 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:18) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs113042313 | 16249435 | 6928 | HNF1B | umls:C0431693 | UNIPROT | Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. | 0.364885954 | 2005 | HNF1B;LOC105371754 | 17 | 37710601 | C | T |
| rs121918671 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37744584 | C | G,A |
| rs121918672 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37731814 | G | A |
| rs121918674 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37739541 | G | C |
| rs121918675 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37739490 | C | T |
| rs138986885 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37731634 | G | A,C,T |
| rs144425830 | 16249435 | 6928 | HNF1B | umls:C0431693 | UNIPROT | Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. | 0.364885954 | 2005 | HNF1B | 17 | 37744659 | C | A |
| rs1800575 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37739455 | G | A |
| rs193922482 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37704931 | A | G |
| rs193922483 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37744745 | G | A |
| rs193922486 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37744664 | A | T |
| rs193922487 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37744541 | C | T |
| rs193922488 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37739640 | C | A |
| rs193922489 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37739507 | A | - |
| rs193922490 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37739473 | A | G |
| rs193922491 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37733663 | G | A |
| rs193922492 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37731691 | C | A |
| rs193922493 | NA | 6928 | HNF1B | umls:C0431693 | CLINVAR | NA | 0.364885954 | NA | HNF1B | 17 | 37731678 | T | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005584 | Renal cell carcinoma | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0012092 | Abnormality of exocrine pancreas physiology | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0002021 | Pyloric stenosis | MP:0006128 | pulmonary valve stenosis | abnormal narrowing of the pulmonary valve |
| HP:0000085 | Horseshoe kidney | MP:0011441 | decreased kidney cell proliferation | decrease in the expansion rate of any kidney cell population by cell division |
| HP:0001919 | Acute kidney injury | MP:0011423 | kidney cortex atrophy | acquired diminution of the size of the outer portion of the kidney located between the renal capsule and the renal medulla, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pres |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0000083 | Renal insufficiency | MP:0003335 | exocrine pancreatic insufficiency | inadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients |
| HP:0009715 | Papillary cystadenoma of the epididymis | MP:0004499 | increased incidence of tumors by chemical induction | higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0012873 | Absent vas deferens | MP:0003557 | absent vas deferens | absence of the secretory duct of the testicle that carries spermatozoa, running from the epididymis, of which it is the continuation, to the prostatic urethra where it terminates to form ejaculatory duct |
| HP:0000813 | Bicornuate uterus | MP:0003558 | absent uterus | absence of the female muscular organ of gestation |
| HP:0000003 | Multicystic kidney dysplasia | MP:0011376 | abnormal kidney corticomedullary boundary morphology | any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary |
Mapped by homologous gene(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002149 | Hyperuricemia | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0009715 | Papillary cystadenoma of the epididymis | MP:0011110 | preweaning lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| HP:0000085 | Horseshoe kidney | MP:0014044 | absent cardiac outflow tract | absence of or complete failure to form the common arterial trunk that normally forms the aorta and pulmonary artery and the ventricular outflow regions |
| HP:0002021 | Pyloric stenosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000303 | Mandibular prognathia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001369 | Arthritis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000003 | Multicystic kidney dysplasia | 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:0100820 | Glomerulopathy | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0001919 | Acute kidney injury | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0012092 | Abnormality of exocrine pancreas physiology | MP:0020101 | abnormal hepatic glucose production | an anomaly in the production of glucose in the liver |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000813 | Bicornuate uterus | 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:0000952 | Jaundice | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001263 | Global developmental delay | 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:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0000083 | Renal insufficiency | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012873 | Absent vas deferens | MP:0013604 | abnormal adult Leydig cell differentiation | atypical formation of or inability to produce the second or adult population of Leydig cells (ALCs) between birth and puberty; ALCs arise in the interstitium of adult testes from unknown progenitor cells and become the major source of androgens that contr |
| HP:0001397 | Hepatic steatosis | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001959 | Polydipsia | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0005584 | Renal cell carcinoma | 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:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0001994 | Renal Fanconi syndrome | MP:0013723 | increased circulating tyrosine level | the amount of the amino acid histidine in the blood is more than expected |
| 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 |
| Disease ID | 1078 |
|---|---|
| Disease | renal cysts and diabetes syndrome |
| Case | (Waiting for update.) |