eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| chronic mucocutaneous candidiasis | ||||
| Disease ID | 366 |
|---|---|
| Disease | chronic mucocutaneous candidiasis |
| Definition | A clinical syndrome characterized by development, usually in infancy or childhood, of a chronic, often widespread candidiasis of skin, nails, and mucous membranes. It may be secondary to one of the immunodeficiency syndromes, inherited as an autosomal recessive trait, or associated with defects in cell-mediated immunity, endocrine disorders, dental stomatitis, or malignancy. |
| Synonym | candidiases, chronic mucocutaneous candidiasis chronic mucocutaneous candidiasis, chronic mucocutaneous candidiasis, chronic mucocutaneous [disease/finding] chronic candidiasis of mucosa, skin and nails chronic mucocutaneous candidiases chronic mucocutaneous candidiasis (disorder) chronic mucocutaneous candidosis cmc - chronic mucocutaneous candidiasis mucocutaneous candidiases, chronic mucocutaneous candidiasis mucocutaneous candidiasis, chronic |
| Orphanet | |
| DOID | |
| UMLS | C0006845 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0006840 | candidiasis | 1 C0036439 | scoliosis | 1 C0014130 | endocrinopathy | 1 C0013575 | ectodermal dysplasia | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:8) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:30) 64170 | CARD9 | 5.679 | DISEASES 959 | CD40LG | 1.479 | DISEASES 93978 | CLEC6A | 2.722 | DISEASES 1380 | CR2 | 1.431 | DISEASES 1644 | DDC | 1.031 | DISEASES 51428 | DDX41 | 1.371 | DISEASES 2706 | GJB2 | 1.287 | DISEASES 3434 | IFIT1 | 2.615 | DISEASES 3459 | IFNGR1 | 1.515 | DISEASES 3586 | IL10 | 1.425 | DISEASES 3594 | IL12RB1 | 3.904 | DISEASES 3605 | IL17A | 4.859 | DISEASES 112744 | IL17F | 4.999 | DISEASES 23765 | IL17RA | 4.615 | DISEASES 50616 | IL22 | 3.434 | DISEASES 149233 | IL23R | 1.133 | DISEASES 64806 | IL25 | 3.447 | DISEASES 3559 | IL2RA | 1.93 | DISEASES 51360 | MBTPS2 | 1.887 | DISEASES 4359 | MPZ | 1.082 | DISEASES 26227 | PHGDH | 1.003 | DISEASES 56342 | PPAN | 1.808 | DISEASES 6050 | RNH1 | 1.338 | DISEASES 6097 | RORC | 1.377 | DISEASES 10274 | STAG1 | 1.928 | DISEASES 6772 | STAT1 | 5.667 | DISEASES 6776 | STAT5A | 1.054 | DISEASES 6850 | SYK | 1.4 | DISEASES 10333 | TLR6 | 1.295 | DISEASES 8805 | TRIM24 | 1.684 | DISEASES |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 366 |
|---|---|
| Disease | chronic mucocutaneous candidiasis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:31) HP:0000682 | Abnormality of dental enamel HP:0002715 | Abnormality of the immune system HP:0000010 | Recurrent urinary tract infections HP:0100825 | Cheilitis HP:0002205 | Recurrent respiratory infections HP:0010783 | Erythema HP:0004370 | Abnormality of temperature regulation HP:0004306 | Abnormality of the endocardium HP:0200042 | Skin ulcer HP:0001821 | Broad nail HP:0000790 | Hematuria HP:0002105 | Hemoptysis HP:0002719 | Recurrent infections HP:0000478 | Abnormality of the eye HP:0008388 | Abnormality of the toenails HP:0008872 | Feeding difficulties in infancy HP:0000962 | Hyperkeratosis HP:0001250 | Seizures HP:0000153 | Abnormality of the mouth HP:0000159 | Abnormality of the lip HP:0000951 | Abnormality of the skin HP:0030016 | Dyspareunia HP:0012735 | Cough HP:0000988 | Skin rash HP:0001597 | Abnormality of the nail HP:0000142 | Abnormality of the vagina HP:0000504 | Abnormality of vision HP:0000989 | Pruritus HP:0012115 | Hepatitis HP:0200034 | Papule HP:0001231 | Abnormality of the fingernails |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 366 |
|---|---|
| Disease | chronic mucocutaneous candidiasis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:24) C2707258 | infections C1883018 | severe aplastic anemia C1373218 | immunosuppression C0796110 | w syndrome C0546837 | esophageal cancer C0398701 | igg2 deficiency C0343900 | disseminated histoplasmosis C0343026 | nail infection C0276680 | candida albicans infection C0275583 | pulmonary nocardiosis C0263316 | pemphigus vegetans C0239295 | oesophageal candidiasis C0238051 | cerebral vasculitis C0175683 | ass deficiency C0162539 | igg subclass deficiency C0033735 | protothecosis C0029166 | oral manifestation C0026946 | fungal infections C0023067 | laryngitis C0015230 | rash C0011636 | dermatophytosis C0007766 | intracranial aneurysm C0002940 | aneurysm C0002880 | autoimmune hemolytic anemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852677 | 22573496 | 6772 | STAT1 | umls:C0006845 | BeFree | The two previously reported types of AD MSMD-causing STAT1 mutations are located in the tail segment domain (p.L706S) or in the DNA-binding domain (p.E320Q and p.Q463H), whereas the AD CMC-causing mutations are located in the coiled-coil domain. | 0.243800186 | 2012 | STAT1 | 2 | 190975830 | A | G |
| rs137852679 | 22573496 | 6772 | STAT1 | umls:C0006845 | BeFree | The two previously reported types of AD MSMD-causing STAT1 mutations are located in the tail segment domain (p.L706S) or in the DNA-binding domain (p.E320Q and p.Q463H), whereas the AD CMC-causing mutations are located in the coiled-coil domain. | 0.243800186 | 2012 | STAT1 | 2 | 190983699 | C | A |
| rs137852680 | 22573496 | 6772 | STAT1 | umls:C0006845 | BeFree | The two previously reported types of AD MSMD-causing STAT1 mutations are located in the tail segment domain (p.L706S) or in the DNA-binding domain (p.E320Q and p.Q463H), whereas the AD CMC-causing mutations are located in the coiled-coil domain. | 0.243800186 | 2012 | STAT1 | 2 | 190991307 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002715 | Abnormality of the immune system | MP:0009403 | increased variability of skeletal muscle fiber size | greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls |
| HP:0004306 | Abnormality of the endocardium | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0004370 | Abnormality of temperature regulation | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000478 | Abnormality of the eye | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0000153 | Abnormality of the mouth | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0008388 | Abnormality of the toenails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001231 | Abnormality of the fingernails | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0001597 | Abnormality of the nail | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0000951 | Abnormality of the skin | MP:0013620 | increased internal diameter of femur | increased cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000142 | Abnormality of the vagina | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0000010 | Recurrent urinary tract infections | 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:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
| HP:0000682 | Abnormality of dental enamel | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012735 | Cough | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0004370 | Abnormality of temperature regulation | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0004306 | Abnormality of the endocardium | MP:0011143 | thick lung-associated mesenchyme | increased thickness of the mesenchymal cell layer due to delay or failure of the mesenchymal compartment to thin down during the late stages of embryonic lung development |
| HP:0001250 | Seizures | 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:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000142 | Abnormality of the vagina | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0000682 | Abnormality of dental enamel | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001231 | Abnormality of the fingernails | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001821 | Broad nail | MP:0012720 | elongated neck | increased length of the neck |
| HP:0008388 | Abnormality of the toenails | MP:0014175 | abnormal ciliary epithelium morphology | any structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l |
| HP:0002105 | Hemoptysis | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000790 | Hematuria | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001597 | Abnormality of the nail | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200042 | Skin ulcer | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000962 | Hyperkeratosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | 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:0200034 | Papule | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0000504 | Abnormality of vision | 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:0002719 | Recurrent infections | 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:0000153 | Abnormality of the mouth | 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:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000010 | Recurrent urinary tract infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002715 | Abnormality of the immune system | MP:0014125 | decreased amylin secretion | reduction in the production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiety a |
| HP:0100825 | Cheilitis | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0012115 | Hepatitis | MP:0013716 | hypolactation | partial failure, or reduced ability to produce or secrete milk from the mammary gland |
| HP:0000951 | Abnormality of the skin | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 366 |
|---|---|
| Disease | chronic mucocutaneous candidiasis |
| Case | (Waiting for update.) |