CANDF9
MCID: CND031
MIFTS: 22

Candidiasis, Familial, 9 (CANDF9)

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

Aliases & Classifications for Candidiasis, Familial, 9

MalaCards integrated aliases for Candidiasis, Familial, 9:

Name: Candidiasis, Familial, 9 57 72 29 6
Candf9 57 72
Candidiasis, Familial, Type 9 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
candidiasis, familial, 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 616445
OMIM Phenotypic Series 57 PS114580
MeSH 44 D002178

Summaries for Candidiasis, Familial, 9

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are recurrent aphthous stomatitis and onychomycosis

More information from OMIM: 616445 PS114580

Related Diseases for Candidiasis, Familial, 9

Symptoms & Phenotypes for Candidiasis, Familial, 9

Human phenotypes related to Candidiasis, Familial, 9:

31
# Description HPO Frequency HPO Source Accession
1 recurrent aphthous stomatitis 31 HP:0011107
2 onychomycosis 31 HP:0012203

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Nails:
onychomycosis

Head And Neck Mouth:
oral thrush
aphthous stomatitis

Skin Nails Hair Skin:
impetigo

Immunology:
candida albicans infections, chronic, recurrent

Clinical features from OMIM®:

616445 (Updated 05-Apr-2021)

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

Publications for Candidiasis, Familial, 9

Articles related to Candidiasis, Familial, 9:

# Title Authors PMID Year
1
Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. 57 6
25918342 2015
2
IL-17RC is required for immune signaling via an extended SEF/IL-17R signaling domain in the cytoplasmic tail. 57
20554964 2010

Variations for Candidiasis, Familial, 9

ClinVar genetic disease variations for Candidiasis, Familial, 9:

6 (show top 50) (show all 177)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL17RC NM_153460.4(IL17RC):c.199C>T (p.Gln67Ter) SNV Pathogenic 372243 rs1057518751 GRCh37: 3:9959678-9959678
GRCh38: 3:9917994-9917994
2 IL17RC NM_153460.4(IL17RC):c.1A>T (p.Met1Leu) SNV Pathogenic 1029237 GRCh37: 3:9959000-9959000
GRCh38: 3:9917316-9917316
3 IL17RC NM_153460.4(IL17RC):c.1864C>T (p.Gln622Ter) SNV Pathogenic 1032503 GRCh37: 3:9974978-9974978
GRCh38: 3:9933294-9933294
4 IL17RC NM_153460.4(IL17RC):c.1522+1G>C SNV Conflicting interpretations of pathogenicity 542537 rs148575246 GRCh37: 3:9974543-9974543
GRCh38: 3:9932859-9932859
5 IL17RC NM_153460.4(IL17RC):c.919C>T (p.Gln307Ter) SNV Conflicting interpretations of pathogenicity 372245 rs143600903 GRCh37: 3:9970030-9970030
GRCh38: 3:9928346-9928346
6 IL17RC NM_153460.4(IL17RC):c.913C>T (p.Arg305Ter) SNV Conflicting interpretations of pathogenicity 372244 rs773852926 GRCh37: 3:9970024-9970024
GRCh38: 3:9928340-9928340
7 IL17RC NM_153460.4(IL17RC):c.1253C>T (p.Thr418Ile) SNV Uncertain significance 578509 rs779320468 GRCh37: 3:9971808-9971808
GRCh38: 3:9930124-9930124
8 IL17RC NM_153460.4(IL17RC):c.191C>T (p.Thr64Met) SNV Uncertain significance 579754 rs143847085 GRCh37: 3:9959670-9959670
GRCh38: 3:9917986-9917986
9 IL17RC NM_153460.4(IL17RC):c.700G>A (p.Gly234Ser) SNV Uncertain significance 640572 rs145374241 GRCh37: 3:9965642-9965642
GRCh38: 3:9923958-9923958
10 IL17RC NM_153460.4(IL17RC):c.105+146G>A SNV Uncertain significance 652100 rs760007478 GRCh37: 3:9959250-9959250
GRCh38: 3:9917566-9917566
11 IL17RC NM_153460.4(IL17RC):c.1031C>T (p.Pro344Leu) SNV Uncertain significance 836082 GRCh37: 3:9970142-9970142
GRCh38: 3:9928458-9928458
12 IL17RC NM_153460.4(IL17RC):c.2119G>A (p.Gly707Arg) SNV Uncertain significance 843547 GRCh37: 3:9975233-9975233
GRCh38: 3:9933549-9933549
13 IL17RC NM_153460.4(IL17RC):c.2037G>C (p.Glu679Asp) SNV Uncertain significance 844209 GRCh37: 3:9975151-9975151
GRCh38: 3:9933467-9933467
14 IL17RC NM_153460.4(IL17RC):c.2059G>A (p.Ala687Thr) SNV Uncertain significance 845731 GRCh37: 3:9975173-9975173
GRCh38: 3:9933489-9933489
15 IL17RC NM_153460.4(IL17RC):c.105+64C>T SNV Uncertain significance 848893 GRCh37: 3:9959168-9959168
GRCh38: 3:9917484-9917484
16 IL17RC NM_153460.4(IL17RC):c.823G>A (p.Val275Met) SNV Uncertain significance 849815 GRCh37: 3:9969850-9969850
GRCh38: 3:9928166-9928166
17 IL17RC NM_153460.4(IL17RC):c.1067T>A (p.Leu356His) SNV Uncertain significance 860246 GRCh37: 3:9970271-9970271
GRCh38: 3:9928587-9928587
18 IL17RC NM_153460.4(IL17RC):c.105+95C>T SNV Uncertain significance 943388 GRCh37: 3:9959199-9959199
GRCh38: 3:9917515-9917515
19 IL17RC NM_153460.4(IL17RC):c.2008C>G (p.Arg670Gly) SNV Uncertain significance 946209 GRCh37: 3:9975122-9975122
GRCh38: 3:9933438-9933438
20 IL17RC NM_153460.4(IL17RC):c.2117G>T (p.Arg706Leu) SNV Uncertain significance 948448 GRCh37: 3:9975231-9975231
GRCh38: 3:9933547-9933547
21 IL17RC NM_153460.4(IL17RC):c.2042C>A (p.Ala681Glu) SNV Uncertain significance 956074 GRCh37: 3:9975156-9975156
GRCh38: 3:9933472-9933472
22 IL17RC NM_153460.4(IL17RC):c.611C>T (p.Pro204Leu) SNV Uncertain significance 958588 GRCh37: 3:9962642-9962642
GRCh38: 3:9920958-9920958
23 IL17RC NM_153460.4(IL17RC):c.1940T>C (p.Phe647Ser) SNV Uncertain significance 959863 GRCh37: 3:9975054-9975054
GRCh38: 3:9933370-9933370
24 IL17RC NM_153460.4(IL17RC):c.2012C>A (p.Ala671Asp) SNV Uncertain significance 962422 GRCh37: 3:9975126-9975126
GRCh38: 3:9933442-9933442
25 IL17RC NM_153460.4(IL17RC):c.521G>A (p.Trp174Ter) SNV Uncertain significance 965398 GRCh37: 3:9962230-9962230
GRCh38: 3:9920546-9920546
26 IL17RC NM_153460.4(IL17RC):c.1720G>A (p.Gly574Ser) SNV Uncertain significance 966102 GRCh37: 3:9974834-9974834
GRCh38: 3:9933150-9933150
27 IL17RC NM_153460.4(IL17RC):c.1948G>C (p.Val650Leu) SNV Uncertain significance 966925 GRCh37: 3:9975062-9975062
GRCh38: 3:9933378-9933378
28 IL17RC NM_153460.4(IL17RC):c.227A>G (p.Lys76Arg) SNV Uncertain significance 970643 GRCh37: 3:9959706-9959706
GRCh38: 3:9918022-9918022
29 IL17RC NM_153460.4(IL17RC):c.1674dup (p.Pro559fs) Duplication Uncertain significance 624010 rs1559327071 GRCh37: 3:9974784-9974785
GRCh38: 3:9933100-9933101
30 IL17RC NM_153460.4(IL17RC):c.406C>T (p.Arg136Cys) SNV Uncertain significance 998838 GRCh37: 3:9960234-9960234
GRCh38: 3:9918550-9918550
31 IL17RC NM_153460.4(IL17RC):c.1942C>G (p.Arg648Gly) SNV Uncertain significance 999557 GRCh37: 3:9975056-9975056
GRCh38: 3:9933372-9933372
32 IL17RC NM_153460.4(IL17RC):c.2125G>C (p.Gly709Arg) SNV Uncertain significance 1001477 GRCh37: 3:9975239-9975239
GRCh38: 3:9933555-9933555
33 IL17RC NM_153460.4(IL17RC):c.1236G>A (p.Leu412=) SNV Uncertain significance 1001948 GRCh37: 3:9971791-9971791
GRCh38: 3:9930107-9930107
34 IL17RC NM_153460.4(IL17RC):c.1438dup (p.Ala480fs) Duplication Uncertain significance 1002278 GRCh37: 3:9974341-9974342
GRCh38: 3:9932657-9932658
35 IL17RC NM_153460.4(IL17RC):c.2041G>A (p.Ala681Thr) SNV Uncertain significance 1004349 GRCh37: 3:9975155-9975155
GRCh38: 3:9933471-9933471
36 IL17RC NM_153460.4(IL17RC):c.160G>A (p.Val54Met) SNV Uncertain significance 1004864 GRCh37: 3:9959639-9959639
GRCh38: 3:9917955-9917955
37 IL17RC NM_153460.4(IL17RC):c.1059C>T (p.Asp353=) SNV Uncertain significance 1006079 GRCh37: 3:9970170-9970170
GRCh38: 3:9928486-9928486
38 IL17RC NC_000003.11:g.(?_9971561_9971976del Deletion Uncertain significance 1008526 GRCh37:
GRCh38:
39 IL17RC NM_153460.4(IL17RC):c.629C>A (p.Pro210His) SNV Uncertain significance 1009796 GRCh37: 3:9965571-9965571
GRCh38: 3:9923887-9923887
40 IL17RC NM_153460.4(IL17RC):c.1487G>A (p.Trp496Ter) SNV Uncertain significance 1011578 GRCh37: 3:9974507-9974507
GRCh38: 3:9932823-9932823
41 IL17RC NM_153460.4(IL17RC):c.2144G>A (p.Gly715Glu) SNV Uncertain significance 542529 rs752392891 GRCh37: 3:9975258-9975258
GRCh38: 3:9933574-9933574
42 IL17RC NM_153460.4(IL17RC):c.106-131del Deletion Uncertain significance 1035290 GRCh37: 3:9959266-9959266
GRCh38: 3:9917582-9917582
43 IL17RC NM_153460.4(IL17RC):c.341A>G (p.Glu114Gly) SNV Uncertain significance 1036347 GRCh37: 3:9960079-9960079
GRCh38: 3:9918395-9918395
44 IL17RC NM_153460.4(IL17RC):c.1546C>G (p.Leu516Val) SNV Uncertain significance 1036475 GRCh37: 3:9974660-9974660
GRCh38: 3:9932976-9932976
45 IL17RC NM_153460.4(IL17RC):c.1385A>C (p.Lys462Thr) SNV Uncertain significance 1038157 GRCh37: 3:9972625-9972625
GRCh38: 3:9930941-9930941
46 IL17RC NM_153460.4(IL17RC):c.1586T>C (p.Leu529Pro) SNV Uncertain significance 1041904 GRCh37: 3:9974700-9974700
GRCh38: 3:9933016-9933016
47 IL17RC NM_153460.4(IL17RC):c.2122G>A (p.Val708Met) SNV Uncertain significance 1042909 GRCh37: 3:9975236-9975236
GRCh38: 3:9933552-9933552
48 IL17RC NM_153460.4(IL17RC):c.983T>C (p.Leu328Pro) SNV Uncertain significance 1042975 GRCh37: 3:9970094-9970094
GRCh38: 3:9928410-9928410
49 IL17RC NM_153460.4(IL17RC):c.724G>T (p.Val242Phe) SNV Uncertain significance 1043295 GRCh37: 3:9965666-9965666
GRCh38: 3:9923982-9923982
50 IL17RC NM_153460.4(IL17RC):c.103C>T (p.Pro35Ser) SNV Uncertain significance 1045516 GRCh37: 3:9959102-9959102
GRCh38: 3:9917418-9917418

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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