MCID: CND031
MIFTS: 19

Candidiasis, Familial, 9

Categories: Genetic diseases, Rare diseases, Blood diseases, Skin diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Candidiasis, Familial, 9

MalaCards integrated aliases for Candidiasis, Familial, 9:

Name: Candidiasis, Familial, 9 57 75 29 6
Candf9 57 75
Candidiasis, Familial, Type 9 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
three unrelated patients have been reported (last curated july 2015)


HPO:

32
candidiasis, familial, 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616445
MeSH 44 D002178

Summaries for Candidiasis, Familial, 9

UniProtKB/Swiss-Prot : 75 Candidiasis, familial, 9: A disorder characterized by altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

MalaCards based summary : Candidiasis, Familial, 9, is also known as candf9. An important gene associated with Candidiasis, Familial, 9 is IL17RC (Interleukin 17 Receptor C). Affiliated tissues include skin, and related phenotypes are recurrent aphthous stomatitis and onychomycosis

Description from OMIM: 616445

Related Diseases for Candidiasis, Familial, 9

Symptoms & Phenotypes for Candidiasis, Familial, 9

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
oral thrush
aphthous stomatitis

Skin Nails Hair Nails:
onychomycosis

Skin Nails Hair Skin:
impetigo

Immunology:
candida albicans infections, chronic, recurrent


Clinical features from OMIM:

616445

Human phenotypes related to Candidiasis, Familial, 9:

32
# Description HPO Frequency HPO Source Accession
1 recurrent aphthous stomatitis 32 HP:0011107
2 onychomycosis 32 HP:0012203

GenomeRNAi Phenotypes related to Candidiasis, Familial, 9 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.23 IL17RC CRELD1
2 Decreased shRNA abundance GR00251-A-2 9.23 CRELD1 IL17RC

Drugs & Therapeutics for Candidiasis, Familial, 9

Search Clinical Trials , NIH Clinical Center for Candidiasis, Familial, 9

Genetic Tests for Candidiasis, Familial, 9

Genetic tests related to Candidiasis, Familial, 9:

# Genetic test Affiliating Genes
1 Candidiasis, Familial, 9 29 IL17RC

Anatomical Context for Candidiasis, Familial, 9

MalaCards organs/tissues related to Candidiasis, Familial, 9:

41
Skin

Publications for Candidiasis, Familial, 9

Variations for Candidiasis, Familial, 9

ClinVar genetic disease variations for Candidiasis, Familial, 9:

6
(show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL17RC NM_153461.3(IL17RC): c.412C> T (p.Gln138Ter) single nucleotide variant Pathogenic rs1057518751 GRCh38 Chromosome 3, 9917994: 9917994
2 IL17RC NM_153461.3(IL17RC): c.412C> T (p.Gln138Ter) single nucleotide variant Pathogenic rs1057518751 GRCh37 Chromosome 3, 9959678: 9959678
3 IL17RC NM_153461.3(IL17RC): c.1126C> T (p.Arg376Ter) single nucleotide variant Pathogenic rs773852926 GRCh38 Chromosome 3, 9928340: 9928340
4 IL17RC NM_153461.3(IL17RC): c.1126C> T (p.Arg376Ter) single nucleotide variant Pathogenic rs773852926 GRCh37 Chromosome 3, 9970024: 9970024
5 IL17RC NM_153461.3(IL17RC): c.1132C> T (p.Arg378Ter) single nucleotide variant Uncertain significance rs143600903 GRCh38 Chromosome 3, 9928346: 9928346
6 IL17RC NM_153461.3(IL17RC): c.1132C> T (p.Arg378Ter) single nucleotide variant Uncertain significance rs143600903 GRCh37 Chromosome 3, 9970030: 9970030
7 IL17RC NM_153461.3(IL17RC): c.332G> A (p.Arg111His) single nucleotide variant Benign rs75324888 GRCh37 Chromosome 3, 9959410: 9959410
8 IL17RC NM_153461.3(IL17RC): c.332G> A (p.Arg111His) single nucleotide variant Benign rs75324888 GRCh38 Chromosome 3, 9917726: 9917726
9 IL17RC NM_153461.3(IL17RC): c.2084G> A (p.Arg695Gln) single nucleotide variant Likely benign rs199595818 GRCh37 Chromosome 3, 9974985: 9974985
10 IL17RC NM_153461.3(IL17RC): c.2084G> A (p.Arg695Gln) single nucleotide variant Likely benign rs199595818 GRCh38 Chromosome 3, 9933301: 9933301
11 IL17RC NM_153461.3(IL17RC): c.2207C> T (p.Ala736Val) single nucleotide variant Likely benign rs140918692 GRCh37 Chromosome 3, 9975108: 9975108
12 IL17RC NM_153461.3(IL17RC): c.2207C> T (p.Ala736Val) single nucleotide variant Likely benign rs140918692 GRCh38 Chromosome 3, 9933424: 9933424
13 IL17RC NM_153461.3(IL17RC): c.1416A> G (p.Arg472=) single nucleotide variant Likely benign rs138063632 GRCh37 Chromosome 3, 9971758: 9971758
14 IL17RC NM_153461.3(IL17RC): c.1416A> G (p.Arg472=) single nucleotide variant Likely benign rs138063632 GRCh38 Chromosome 3, 9930074: 9930074
15 IL17RC NM_153461.3(IL17RC): c.1502G> A (p.Arg501His) single nucleotide variant Uncertain significance rs377162755 GRCh37 Chromosome 3, 9972094: 9972094
16 IL17RC NM_153461.3(IL17RC): c.1502G> A (p.Arg501His) single nucleotide variant Uncertain significance rs377162755 GRCh38 Chromosome 3, 9930410: 9930410
17 IL17RC NM_153461.3(IL17RC): c.1596C> T (p.Asp532=) single nucleotide variant Likely benign rs775281911 GRCh37 Chromosome 3, 9972623: 9972623
18 IL17RC NM_153461.3(IL17RC): c.1596C> T (p.Asp532=) single nucleotide variant Likely benign rs775281911 GRCh38 Chromosome 3, 9930939: 9930939
19 IL17RC NM_153461.3(IL17RC): c.2025C> G (p.Gly675=) single nucleotide variant Benign rs181990653 GRCh37 Chromosome 3, 9974926: 9974926
20 IL17RC NM_153461.3(IL17RC): c.2025C> G (p.Gly675=) single nucleotide variant Benign rs181990653 GRCh38 Chromosome 3, 9933242: 9933242
21 IL17RC NM_153461.3(IL17RC): c.374T> C (p.Val125Ala) single nucleotide variant Likely benign rs138985119 GRCh38 Chromosome 3, 9917956: 9917956
22 IL17RC NM_153461.3(IL17RC): c.374T> C (p.Val125Ala) single nucleotide variant Likely benign rs138985119 GRCh37 Chromosome 3, 9959640: 9959640
23 IL17RC NM_153461.3(IL17RC): c.1183G> A (p.Ala395Thr) single nucleotide variant Benign rs115461448 GRCh37 Chromosome 3, 9970081: 9970081
24 IL17RC NM_153461.3(IL17RC): c.1183G> A (p.Ala395Thr) single nucleotide variant Benign rs115461448 GRCh38 Chromosome 3, 9928397: 9928397
25 IL17RC NM_153461.3(IL17RC): c.1652C> T (p.Ala551Val) single nucleotide variant Uncertain significance rs151155686 GRCh38 Chromosome 3, 9932659: 9932659
26 IL17RC NM_153461.3(IL17RC): c.1652C> T (p.Ala551Val) single nucleotide variant Uncertain significance rs151155686 GRCh37 Chromosome 3, 9974343: 9974343
27 IL17RC NM_153461.3(IL17RC): c.2238G> A (p.Gly746=) single nucleotide variant Benign rs189013166 GRCh38 Chromosome 3, 9933455: 9933455
28 IL17RC NM_153461.3(IL17RC): c.2238G> A (p.Gly746=) single nucleotide variant Benign rs189013166 GRCh37 Chromosome 3, 9975139: 9975139
29 IL17RC NM_153461.3(IL17RC): c.853G> A (p.Val285Met) single nucleotide variant Benign rs75692599 GRCh38 Chromosome 3, 9923898: 9923898
30 IL17RC NM_153461.3(IL17RC): c.853G> A (p.Val285Met) single nucleotide variant Benign rs75692599 GRCh37 Chromosome 3, 9965582: 9965582
31 IL17RC NM_153461.3(IL17RC): c.975+9T> A single nucleotide variant Benign rs115949142 GRCh37 Chromosome 3, 9965713: 9965713
32 IL17RC NM_153461.3(IL17RC): c.975+9T> A single nucleotide variant Benign rs115949142 GRCh38 Chromosome 3, 9924029: 9924029
33 IL17RC NM_153461.3(IL17RC): c.1223C> T (p.Pro408Leu) single nucleotide variant Benign rs115419420 GRCh38 Chromosome 3, 9928437: 9928437
34 IL17RC NM_153461.3(IL17RC): c.1223C> T (p.Pro408Leu) single nucleotide variant Benign rs115419420 GRCh37 Chromosome 3, 9970121: 9970121
35 IL17RC NM_153461.3(IL17RC): c.228_229insCTTTCTGGT (p.Gly76_Ala77insLeuSerGly) insertion Benign GRCh37 Chromosome 3, 9959227: 9959228
36 IL17RC NM_153461.3(IL17RC): c.228_229insCTTTCTGGT (p.Gly76_Ala77insLeuSerGly) insertion Benign GRCh38 Chromosome 3, 9917543: 9917544
37 IL17RC NM_153461.3(IL17RC): c.658G> C (p.Val220Leu) single nucleotide variant Likely benign rs112627391 GRCh38 Chromosome 3, 9918589: 9918589
38 IL17RC NM_153461.3(IL17RC): c.658G> C (p.Val220Leu) single nucleotide variant Likely benign rs112627391 GRCh37 Chromosome 3, 9960273: 9960273
39 IL17RC NM_153461.3(IL17RC): c.804C> T (p.Leu268=) single nucleotide variant Benign rs139727834 GRCh37 Chromosome 3, 9962622: 9962622
40 IL17RC NM_153461.3(IL17RC): c.804C> T (p.Leu268=) single nucleotide variant Benign rs139727834 GRCh38 Chromosome 3, 9920938: 9920938
41 IL17RC NM_153461.3(IL17RC): c.835+8C> T single nucleotide variant Benign rs9864177 GRCh37 Chromosome 3, 9962661: 9962661
42 IL17RC NM_153461.3(IL17RC): c.835+8C> T single nucleotide variant Benign rs9864177 GRCh38 Chromosome 3, 9920977: 9920977
43 IL17RC NM_153461.3(IL17RC): c.987G> C (p.Gln329His) single nucleotide variant Benign rs115505677 GRCh37 Chromosome 3, 9965927: 9965927
44 IL17RC NM_153461.3(IL17RC): c.987G> C (p.Gln329His) single nucleotide variant Benign rs115505677 GRCh38 Chromosome 3, 9924243: 9924243
45 IL17RC NM_153461.3(IL17RC): c.1164C> T (p.Asp388=) single nucleotide variant Benign rs151110374 GRCh37 Chromosome 3, 9970062: 9970062
46 IL17RC NM_153461.3(IL17RC): c.1164C> T (p.Asp388=) single nucleotide variant Benign rs151110374 GRCh38 Chromosome 3, 9928378: 9928378
47 IL17RC NM_153461.3(IL17RC): c.2010G> C (p.Gly670=) single nucleotide variant Likely benign rs770588776 GRCh38 Chromosome 3, 9933227: 9933227
48 IL17RC NM_153461.3(IL17RC): c.2010G> C (p.Gly670=) single nucleotide variant Likely benign rs770588776 GRCh37 Chromosome 3, 9974911: 9974911
49 IL17RC NM_153461.3(IL17RC): c.366G> A (p.Gly122=) single nucleotide variant Benign rs148170215 GRCh37 Chromosome 3, 9959632: 9959632
50 IL17RC NM_153461.3(IL17RC): c.366G> A (p.Gly122=) single nucleotide variant Benign rs148170215 GRCh38 Chromosome 3, 9917948: 9917948

Expression for Candidiasis, Familial, 9

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Pathways for Candidiasis, Familial, 9

GO Terms for Candidiasis, Familial, 9

Sources for Candidiasis, Familial, 9

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