eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cystinosis | ||||
| Disease ID | 346 |
|---|---|
| Disease | cystinosis |
| Definition | A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME. |
| Synonym | cystine diatheses cystine diathesis cystine disease cystine diseases cystine storage disease cystine storage diseases cystinoses cystinoses, nephropathic cystinosin, defect of cystinosis (disorder) cystinosis (disorder) [ambiguous] cystinosis [disease/finding] cystinosis [dup] cystinosis [dup] (disorder) cystinosis, nephropathic cystinosis, nos defect of cystinosin defect of cystinosins diatheses, cystine diathesis, cystine lysosomal cystine transport protein, defect of nephropathic cystinoses storage disease, cystine storage diseases, cystine |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C2931187 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:14) C0015624 | fanconi syndrome | 4 C0022658 | renal disease | 2 C0004775 | bartter syndrome | 2 C0021831 | bowel disease | 1 C0017919 | glycogen storage diseases | 1 C0878544 | cardiomyopathy | 1 C0019569 | hirschsprung's disease | 1 C0030312 | pancytopenia | 1 C0020443 | hypercholesterolemia | 1 C0017919 | glycogen storage disease | 1 C0021390 | inflammatory bowel disease | 1 C0022658 | renal diseases | 1 C0017601 | glaucoma | 1 C0017605 | angle-closure glaucoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:54) 55811 | ADCY10 | 2.454 | DISEASES 229 | ALDOB | 3.213 | DISEASES 487 | ATP2A1 | 2 | DISEASES 554 | AVPR2 | 2.116 | DISEASES 837 | CASP4 | 1.616 | DISEASES 6364 | CCL20 | 2.586 | DISEASES 1123 | CHN1 | 1.396 | DISEASES 4166 | CHST6 | 2.121 | DISEASES 1184 | CLCN5 | 1.209 | DISEASES 1285 | COL4A3 | 1.195 | DISEASES 1287 | COL4A5 | 1.093 | DISEASES 1491 | CTH | 1.257 | DISEASES 1497 | CTNS | 8.27 | DISEASES 5476 | CTSA | 1.023 | DISEASES 1520 | CTSS | 1.363 | DISEASES 8029 | CUBN | 3.648 | DISEASES 285440 | CYP4V2 | 1.601 | DISEASES 83715 | ESPN | 2.265 | DISEASES 22862 | FNDC3A | 2.002 | DISEASES 2520 | GAST | 2.162 | DISEASES 2975 | GTF3C1 | 3.211 | DISEASES 3482 | IGF2R | 1.11 | DISEASES 3702 | ITK | 1.319 | DISEASES 10945 | KDELR1 | 2.519 | DISEASES 3850 | KRT3 | 1.941 | DISEASES 3916 | LAMP1 | 1.716 | DISEASES 3920 | LAMP2 | 2.952 | DISEASES 10724 | MGEA5 | 1.808 | DISEASES 5034 | P4HB | 1.015 | DISEASES 5420 | PODXL | 1.271 | DISEASES 5538 | PPT1 | 1.381 | DISEASES 54896 | PQLC2 | 3.985 | DISEASES 5688 | PSMA7 | 2.356 | DISEASES 5873 | RAB27A | 1.622 | DISEASES 10670 | RRAGA | 2.738 | DISEASES 64121 | RRAGC | 3.042 | DISEASES 26503 | SLC17A5 | 2.76 | DISEASES 6569 | SLC34A1 | 2.981 | DISEASES 83959 | SLC4A11 | 1.947 | DISEASES 6524 | SLC5A2 | 1.296 | DISEASES 348932 | SLC6A18 | 2.643 | DISEASES 11346 | SYNPO | 1.306 | DISEASES 4070 | TACSTD2 | 1.376 | DISEASES 29110 | TBK1 | 1.352 | DISEASES 7068 | THRB | 1.11 | DISEASES 219623 | TMEM26 | 2.854 | DISEASES 7442 | TRPV1 | 2.475 | DISEASES 162514 | TRPV3 | 2.052 | DISEASES 7272 | TTK | 1.695 | DISEASES 29914 | UBIAD1 | 3.103 | DISEASES 8876 | VNN1 | 4.501 | DISEASES 8875 | VNN2 | 5.101 | DISEASES 55350 | VNN3 | 3.175 | DISEASES 23038 | WDTC1 | 1.553 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 346 |
|---|---|
| Disease | cystinosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:33) HP:0002748 | Rickets HP:0002013 | Vomiting HP:0012378 | Fatigue HP:0004322 | Short stature HP:0007256 | Abnormal pyramidal signs HP:0003198 | Myopathy HP:0000093 | Proteinuria HP:0000124 | Renal tubular dysfunction HP:0000083 | Renal insufficiency HP:0001409 | Portal hypertension HP:0000733 | Stereotypy HP:0000112 | Nephropathy HP:0001944 | Dehydration HP:0009806 | Nephrogenic diabetes insipidus HP:0002024 | Malabsorption HP:0100651 | Type I diabetes mellitus HP:0001256 | Intellectual disability, mild HP:0007957 | Corneal opacity HP:0001288 | Gait disturbance HP:0002900 | Hypokalemia HP:0003355 | Aminoaciduria HP:0001945 | Fever HP:0001508 | Failure to thrive HP:0000823 | Delayed puberty HP:0001959 | Polydipsia HP:0000505 | Visual impairment HP:0001324 | Muscle weakness HP:0000488 | Retinopathy HP:0002357 | Dysphasia HP:0000613 | Photophobia HP:0006824 | Cranial nerve paralysis HP:0002148 | Hypophosphatemia HP:0000821 | Hypothyroidism |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0001948 | Alkalosis | 3 HP:0200114 | Metabolic alkalosis | 3 HP:0001994 | 'de toni-fanconi-debre' syndrome | 2 HP:0001638 | Cardiomyopathy | 1 HP:0000103 | Polyuria | 1 HP:0000114 | Proximal tubular defect | 1 HP:0002902 | Hyponatremia | 1 HP:0011967 | Hypocupremia | 1 HP:0100812 | bad breath | 1 HP:0003124 | Elevated serum cholesterol | 1 HP:0000613 | Extreme light sensitivity | 1 HP:0007099 | Arnold Chiari type I malformation | 1 HP:0003076 | Glucosuria | 1 HP:0001876 | Low blood cell count | 1 HP:0000501 | Glaucoma | 1 |
| Disease ID | 346 |
|---|---|
| Disease | cystinosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:20) C2186532 | liver disease C1963154 | renal failure C1962972 | proteinuria C1707516 | corneal sensitivity C0878787 | growth failure C0730362 | maculopathy C0700502 | primary hypothyroidism C0238621 | aminoaciduria C0238298 | myxedema coma C0155119 | recurrent corneal erosion C0149645 | cervical myelopathy C0035579 | rickets C0033845 | idiopathic intracranial hypertension C0029166 | oral manifestations C0022661 | end-stage renal disease C0020676 | hypothyroidism C0020541 | portal hypertension C0015624 | fanconi syndrome C0007134 | renal cell carcinoma C0005940 | bone disorders |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0007256 | Abnormal pyramidal signs | MP:0009940 | abnormal hippocampus pyramidal cell morphology | any structural anomaly of a multipolar projection neuron in the hippocampus pyramidal cell layer; pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from |
| HP:0100651 | Type I diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| 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:0001508 | Failure to thrive | MP:0013294 | prenatal lethality prior to heart atrial septation | death prior to the completion of heart atrial septation (Mus: E14.5-15.5) |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001409 | Portal hypertension | MP:0000231 | hypertension | sustained high blood pressure at a level that is likely to result in cardiovascular disease and/or other pathological states |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0007957 | Corneal opacity | MP:0009859 | eye opacity | changes in the eye grossly observed as a milky or cloudy appearance that may be progressive and persistent throughout life |
| HP:0000733 | Stereotypic behavior | MP:0012312 | impaired avoidance learning behavior | impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus |
Mapped by homologous gene(Total Items:33) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001944 | Dehydration | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0000112 | Nephropathy | 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:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0004322 | Short stature | 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:0002024 | Malabsorption | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002900 | Hypokalemia | MP:0014206 | decreased intestinal epithelial sodium ion transmembrane transport | |
| HP:0001508 | Failure to thrive | 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:0000093 | Proteinuria | 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:0003355 | Aminoaciduria | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001409 | Portal hypertension | MP:0014074 | increased brain glycogen level | greater than the normal concentration of a readily converted carbohydrate reserve in brain |
| HP:0007957 | Corneal opacity | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000124 | Renal tubular dysfunction | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009806 | Nephrogenic diabetes insipidus | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0012378 | Fatigue | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0007256 | Abnormal pyramidal signs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003198 | Myopathy | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0002148 | Hypophosphatemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100651 | Type I diabetes mellitus | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| 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:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0002748 | Rickets | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000733 | Stereotypic behavior | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000488 | Retinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000613 | Photophobia | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000505 | Visual impairment | 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:0002357 | Dysphasia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 346 |
|---|---|
| Disease | cystinosis |
| Case | (Waiting for update.) |