PedAM

Pediatric Disease Annotations & Medicines


	chronic mucocutaneous candidiasis

Disease ID	214
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	ORPHANET:1334
DOID	DOID:2058
UMLS	C0006845
MeSH	D002178
SNOMED-CT	SNOMEDCT_US_2016_09_01:234568006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:3) C0014130 \| endocrinopathy \| 1 C0011603 \| dermatitis \| 1 C0006840 \| candidiasis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) STAT1 \| 6772 \| CTD_human;ORPHANET IL17F \| 112744 \| ORPHANET IL17RA \| 23765 \| ORPHANET CARD9 \| 64170 \| ORPHANET TRAF3IP2 \| 10758 \| ORPHANET IL17RC \| 84818 \| ORPHANET CLEC7A \| 64581 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:59) 973 \| CD79A \| DISEASES 3558 \| IL2 \| DISEASES 55801 \| IL26 \| DISEASES 3458 \| IFNG \| DISEASES 3820 \| KLRB1 \| DISEASES 9525 \| VPS4B \| DISEASES 10804 \| GJB6 \| DISEASES 7166 \| TPH1 \| DISEASES 55821 \| ALLC \| DISEASES 3431 \| SP110 \| DISEASES 3569 \| IL6 \| DISEASES 7097 \| TLR2 \| DISEASES 51816 \| CECR1 \| DISEASES 5317 \| PKP1 \| DISEASES 6774 \| STAT3 \| DISEASES 5211 \| PFKL \| DISEASES 8915 \| BCL10 \| DISEASES 130120 \| REG3G \| DISEASES 5822 \| PWP2 \| DISEASES 326 \| AIRE \| DISEASES 6777 \| STAT5B \| DISEASES 2672 \| GFI1 \| DISEASES 84818 \| IL17RC \| DISEASES 7098 \| TLR3 \| DISEASES 64581 \| CLEC7A \| DISEASES 1469 \| CST1 \| DISEASES 3872 \| KRT17 \| DISEASES 6773 \| STAT2 \| DISEASES 10892 \| MALT1 \| DISEASES 23765 \| IL17RA \| DISEASES 149233 \| IL23R \| DISEASES 6097 \| RORC \| DISEASES 64806 \| IL25 \| DISEASES 50616 \| IL22 \| DISEASES 112744 \| IL17F \| DISEASES 8805 \| TRIM24 \| DISEASES 6776 \| STAT5A \| DISEASES 3605 \| IL17A \| DISEASES 6050 \| RNH1 \| DISEASES 1644 \| DDC \| DISEASES 6772 \| STAT1 \| DISEASES 1380 \| CR2 \| DISEASES 3459 \| IFNGR1 \| DISEASES 26227 \| PHGDH \| DISEASES 959 \| CD40LG \| DISEASES 64170 \| CARD9 \| DISEASES 3434 \| IFIT1 \| DISEASES 6850 \| SYK \| DISEASES 51360 \| MBTPS2 \| DISEASES 3559 \| IL2RA \| DISEASES 10333 \| TLR6 \| DISEASES 93978 \| CLEC6A \| DISEASES 2706 \| GJB2 \| DISEASES 10274 \| STAG1 \| DISEASES 3594 \| IL12RB1 \| DISEASES 3586 \| IL10 \| DISEASES 51428 \| DDX41 \| DISEASES 4359 \| MPZ \| DISEASES 56342 \| PPAN \| DISEASES
Locus	Symbol \| Locus(Total Locus:5) TRAF3IP2 \| 6q21 IL17F \| 6p12.2 IL17RC \| 3p25.3 CLEC7A \| 12p13.2 IL17RA \| 22q11.1

Disease ID	214
Disease	chronic mucocutaneous candidiasis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:31) HP:0012735 \| Cough HP:0000988 \| Skin rash HP:0000951 \| Abnormality of the skin HP:0004370 \| Abnormality of temperature regulation HP:0001231 \| Abnormality of the fingernails HP:0000142 \| Abnormality of the vagina HP:0000504 \| Abnormality of vision HP:0001250 \| Seizures HP:0002715 \| Abnormality of the immune system HP:0200042 \| Skin ulcer HP:0002105 \| Hemoptysis HP:0000478 \| Abnormality of the eye HP:0000682 \| Abnormality of dental enamel HP:0000962 \| Hyperkeratosis HP:0000989 \| Pruritus HP:0000010 \| Recurrent urinary tract infections HP:0001597 \| Abnormality of the nail HP:0000159 \| Abnormality of the lip HP:0000790 \| Hematuria HP:0001821 \| Broad nail HP:0004306 \| Abnormality of the endocardium HP:0100825 \| Cheilitis HP:0012115 \| Hepatitis HP:0000153 \| Abnormality of the mouth HP:0002205 \| Recurrent respiratory infections HP:0002719 \| Recurrent infections HP:0008872 \| Feeding difficulties in infancy HP:0200034 \| Papule HP:0030016 \| Dyspareunia HP:0008388 \| Abnormality of the toenails HP:0010783 \| Erythema
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:1) HP:0000078 \| Genital abnormalities \| 1

Disease ID	214
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) C0021311 \| infections \| 1 C0343026 \| nail infection \| 1

Manually Genotype(Total Text Mining 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:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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