CMC
MCID: CND026
MIFTS: 51

Candidiasis, Familial, 2, Autosomal Recessive (CMC) malady

Genetic diseases, Skin diseases, Blood diseases, Rare diseases categories

Summaries for Candidiasis, Familial, 2, Autosomal Recessive

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48OMIM, 34MalaCards
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MalaCards: Candidiasis, Familial, 2, Autosomal Recessive, also known as chronic mucocutaneous candidosis, is related to candidiasis and chronic mucocutaneous candidiasis, and has symptoms including cough, dyspareunia/coital pain/vaginal dryness and recurrent urinary infections. An important gene associated with Candidiasis, Familial, 2, Autosomal Recessive is CARD9 (caspase recruitment domain family, member 9), and among its related pathways are Immune response IL 23 signaling pathway and NF-kappaB Signaling. The drugs ketoconazole and itraconazole and the compounds salicylic acid and glucosamine sulfate have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related mouse phenotypes are respiratory system and integument.

Description from OMIM:48 114580, 212050, 247650, 252250, 607644 613108, 613953, 613956, 614162, 615527 more

Aliases & Classifications for Candidiasis, Familial, 2, Autosomal Recessive

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48OMIM, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

50
chronic mucocutaneous candidosis:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Age of onset: Neonatal/infancy


Aliases & Descriptions:

candidiasis, familial, 2, autosomal recessive 48
chronic mucocutaneous candidosis 50 48
candidiasis, chronic mucocutaneous 63
chronic mucocutaneous candidiasis 50
cmc 50


External Ids:

MESH via Orphanet37 D002178
ICD10 via Orphanet27 B37.2
SNOMED-CT via Orphanet60 234568006
UMLS via Orphanet64 C0006845

Related Diseases for Candidiasis, Familial, 2, Autosomal Recessive

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18GeneCards, 19GeneDecks
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Diseases in the Candidiasis, Familial, 2, Autosomal Recessive family:

Candidiasis, Familial, 1, Autosomal Dominant Candidiasis, Familial, 6, Autosomal Dominant
Candidiasis, Familial, 4, Autosomal Recessive Candidiasis, Familial, 5, Autosomal Recessive

Diseases related to Candidiasis, Familial, 2, Autosomal Recessive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 56)
idRelated DiseaseScoreTop Affiliating Genes
1candidiasis32.3CARD9
2chronic mucocutaneous candidiasis32.2STAT1
3thymoma10.7
4systemic lupus erythematosus10.5
5alopecia10.5
6alopecia areata10.5
7dermatophytosis10.5
8esophagitis10.5
9histoplasmosis10.5
10hypothyroidism10.5
11lupus erythematosus10.5
12aneurysm10.5
13intracranial aneurysm10.4
14autoimmune hemolytic anemia10.4
15cerebritis10.4
16hypoparathyroidism10.4
17aplastic anemia10.4
18autoimmune polyendocrine syndrome10.4
19hemolytic anemia10.4
20hepatitis10.4
21keratitis10.4
22laryngitis10.4
23meningitis10.4
24pneumonia10.4
25vasculitis10.4
26rosacea10.2
27pemphigus10.2
28nocardiosis10.2
29autoimmune polyendocrine syndrome type 110.2
30vitiligo10.2
31acne10.2
32esophageal cancer10.2
33hypopituitarism10.2
34influenza10.2
35myasthenia gravis10.2
36myositis10.2
37t cell deficiency10.2
38thyroiditis10.2
39aminoaciduria10.2
40candidiasis familial chronic mucocutaneous, autosomal recessive10.2
41kid syndrome10.2
42candidiasis, familial, 810.2
43autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.2
44primary immunodeficiency disease10.2
45pemphigus vegetans10.2
46coccidioidomycosis10.1CLEC7A
47b-cell lymphomas10.1
48periodontal disease10.0ICAM1
49synovitis10.0STAT1, ICAM1
50sarcoidosis10.0STAT1, ICAM1

Graphical network of the top 20 diseases related to Candidiasis, Familial, 2, Autosomal Recessive:



Diseases related to candidiasis, familial, 2, autosomal recessive

Symptoms for Candidiasis, Familial, 2, Autosomal Recessive

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

114580

Clinical features from OMIM:

114580,212050,247650,252250,607644,613108,613953,613956,614162,615527

Symptoms:

50 (show all 33)
  • cough
  • dyspareunia/coital pain/vaginal dryness
  • recurrent urinary infections
  • hematuria/microhematuria
  • endocardium anomalies/fibroelastosis/endocarditis
  • anomalies of the immunitary system
  • enamel anomaly
  • anomalies of mouth, lip and philtrum
  • vagina anomalies/atresia/hydrometrocolpos/hymen imperforation
  • hemoptysis
  • abnormal fingernails
  • abnormal toenails
  • dysplastic/thick/grooved fingernails
  • dysplastic/thick/grooved toenails
  • oral mucosa disease/cheilitis
  • pruritus/itching
  • follicular/erythematous/edematous papules/milium
  • seizures/epilepsy/absences/spasms/status epilepticus
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • autosomal dominant inheritance
  • anomalies of skin, subcutaneous tissue and mucosae
  • repeat respiratory infections
  • fever/chilling
  • anomalies of eyes and vision
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • nails anomalies
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hepatitis/icterus/cholestasis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • cutaneous rash
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • motor deficit/trouble

Drugs & Therapeutics for Candidiasis, Familial, 2, Autosomal Recessive

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Candidiasis, Familial, 2, Autosomal Recessive

Drug clinical trials:

Search ClinicalTrials for Candidiasis, Familial, 2, Autosomal Recessive

Search NIH Clinical Center for Candidiasis, Familial, 2, Autosomal Recessive

Search CenterWatch for Candidiasis, Familial, 2, Autosomal Recessive

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Candidiasis, Familial, 2, Autosomal Recessive

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Anatomical Context for Candidiasis, Familial, 2, Autosomal Recessive

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34MalaCards
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MalaCards organs/tissues related to Candidiasis, Familial, 2, Autosomal Recessive:

34
Skin, Eye

Animal Models for Candidiasis, Familial, 2, Autosomal Recessive or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Candidiasis, Familial, 2, Autosomal Recessive:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.6TRAF3IP2, IL17RA, IL17F, CLEC7A
2MP:00107718.1ICAM1, STAT1, IL17RA, TRAF3IP2
3MP:00053817.6CLEC7A, ICAM1, STAT1, IL17F, TRAF3IP2
4MP:00107687.6TRAF3IP2, IL17F, STAT1, ICAM1, CLEC7A
5MP:00053767.4CLEC7A, ICAM1, STAT1, IL17RA, CARD9
6MP:00053976.9TRAF3IP2, CLEC7A, ICAM1, STAT1, IL17F, IL17RA
7MP:00053876.9CLEC7A, ICAM1, STAT1, IL17F, IL17RA, CARD9

Publications for Candidiasis, Familial, 2, Autosomal Recessive

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Variations for Candidiasis, Familial, 2, Autosomal Recessive

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Candidiasis, Familial, 2, Autosomal Recessive:

65
id Symbol AA change Variation ID SNP ID
1CARD9p.Gly72SerVAR_070828
2CARD9p.Arg101CysVAR_070829
3CARD9p.Arg373ProVAR_070830

Clinvar genetic disease variations for Candidiasis, Familial, 2, Autosomal Recessive:

1
id Gene Name Type Significance SNP ID Assembly Location
1CARD9NM_052813.4(CARD9): c.883C> T (p.Gln295Ter)single nucleotide variantPathogenicrs121918338GRCh37Chr 9, 139264814: 139264814
2CARD9NM_052813.4(CARD9): c.214G> A (p.Gly72Ser)single nucleotide variantPathogenicrs398122362GRCh37Chr 9, 139265884: 139265884
3CARD9NM_052813.4(CARD9): c.1118G> C (p.Arg373Pro)single nucleotide variantPathogenicrs149712114GRCh37Chr 9, 139262240: 139262240
4CARD9NM_052813.4(CARD9): c.865C> T (p.Gln289Ter)single nucleotide variantPathogenicrs398122363GRCh37Chr 9, 139264832: 139264832
5CARD9NM_052813.4(CARD9): c.301C> T (p.Arg101Cys)single nucleotide variantPathogenicrs398122364GRCh37Chr 9, 139265797: 139265797

Expression for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

Search GEO for disease gene expression data for Candidiasis, Familial, 2, Autosomal Recessive.

Pathways for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

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Sources:
51PathCards, 61Thomson Reuters, 39NCBI BioSystems Database, 54QIAGEN, 5Cell Signaling Technology, 55R&D Systems, 31KEGG, 56Reactome
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Pathways related to Candidiasis, Familial, 2, Autosomal Recessive according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
IL23-mediated signaling events39
Immune response IL 10 signaling pathway61
Angiopoietin receptor Tie2-mediated signaling39
Development PDGF signaling via STATs and NF kB61
Development Angiopoietin Tie2 signaling61
9.3IL17F, STAT1
29.1CARD9, IL17RA, CLEC7A
3
Show member pathways
9.1TRAF3IP2, IL17RA, IL17F
49.0STAT1, ICAM1
59.0STAT1, ICAM1
6
Show member pathways
IFN-gamma pathway39
9.0STAT1, ICAM1
79.0ICAM1, STAT1
89.0STAT1, ICAM1
99.0CLEC7A, STAT1, CARD9
10
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways61
Immune response IL 1 signaling pathway61
9.0CARD9, STAT1, CLEC7A
11
Show member pathways
8.9STAT1, IL17F, IL17RA
12
Show member pathways
8.3TRAF3IP2, IL17RA, IL17F, ICAM1

Compounds for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 52PharmGKB, 12DrugBank
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Compounds related to Candidiasis, Familial, 2, Autosomal Recessive according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1salicylic acid46 3010.1ICAM1, TRAF3IP2
2glucosamine sulfate469.1STAT1, ICAM1
3ciglitazone46 3010.0STAT1, ICAM1
4mg 13246 6210.0STAT1, ICAM1
5rantes468.6IL17RA, STAT1, ICAM1
6dexamethasone46 52 30 1211.2STAT1, ICAM1, CLEC7A

GO Terms for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

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17Gene Ontology
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Biological processes related to Candidiasis, Familial, 2, Autosomal Recessive according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1regulation of interleukin-2 biosynthetic processGO:0450769.8CARD9, IL17F
2regulation of interleukin-6 biosynthetic processGO:0454089.8CARD9, IL17F
3positive regulation of cytokine production involved in inflammatory responseGO:19000179.7IL17RA, IL17F
4positive regulation of tumor necrosis factor productionGO:0327609.6CARD9, CLEC7A
5response to exogenous dsRNAGO:0433309.6STAT1, CARD9
6regulation of apoptotic processGO:0429819.5CARD9, STAT1
7negative regulation of angiogenesisGO:0165259.3IL17F, STAT1
8defense response to virusGO:0516079.2CARD9, STAT1
9interferon-gamma-mediated signaling pathwayGO:0603338.9ICAM1, STAT1
10response to drugGO:0424938.8CARD9, STAT1, ICAM1
11cytokine-mediated signaling pathwayGO:0192218.8ICAM1, STAT1, IL17RA

Molecular functions related to Candidiasis, Familial, 2, Autosomal Recessive according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein homodimerization activityGO:0428039.0CARD9, IL17F, STAT1

Products for genes affiliated with Candidiasis, Familial, 2, Autosomal Recessive

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Candidiasis, Familial, 2, Autosomal Recessive

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet