CANDF6
MCID: CND037
MIFTS: 35

Candidiasis, Familial, 6 (CANDF6)

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

Aliases & Classifications for Candidiasis, Familial, 6

MalaCards integrated aliases for Candidiasis, Familial, 6:

Name: Candidiasis, Familial, 6 57 72 29 6 70
Candidiasis, Familial, 6, Autosomal Dominant 57 29 13
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant 57 6
Candf6 57 72
Autoimmune Enteropathy and Endocrinopathy-Susceptibility to Chronic Infections Syndrome 20
Autosomal Dominant Candidiasis Familial Chronic Mucocutaneous 20
Candidiasis Familial Chronic Mucocutaneous Autosomal Dominant 72
Familial Chronic Mucocutaneous, Autosomal Dominant 20
Chronic Mucocutaneous Candidiasis 6 72
Candidiasis, Familial, Type 6 39
Immunodeficiency 31c; Imd31c 20
Candidiasis, Familial, 7 70
Candidiasis Familial, 7 20
Candf7 20

Characteristics:

HPO:

31
candidiasis, familial, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613956
OMIM Phenotypic Series 57 PS114580
MeSH 44 D002178
MedGen 41 C3151405
SNOMED-CT via HPO 68 234568006 263681008
UMLS 70 C3151405 C3279990

Summaries for Candidiasis, Familial, 6

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 391487 Definition An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis /osteopenia.

MalaCards based summary : Candidiasis, Familial, 6, also known as candidiasis, familial, 6, autosomal dominant, is related to immunodeficiency 31c and candidiasis, familial, 1. An important gene associated with Candidiasis, Familial, 6 is IL17F (Interleukin 17F), and among its related pathways/superpathways are IL-9 Signaling Pathways and Immune response IL-23 signaling pathway. Related phenotype is chronic mucocutaneous candidiasis.

UniProtKB/Swiss-Prot : 72 Candidiasis, familial, 6: A primary immunodeficiency disorder with 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.

More information from OMIM: 613956 PS114580

Related Diseases for Candidiasis, Familial, 6

Graphical network of the top 20 diseases related to Candidiasis, Familial, 6:



Diseases related to Candidiasis, Familial, 6

Symptoms & Phenotypes for Candidiasis, Familial, 6

Human phenotypes related to Candidiasis, Familial, 6:

31
# Description HPO Frequency HPO Source Accession
1 chronic mucocutaneous candidiasis 31 HP:0002728

Clinical features from OMIM®:

613956 (Updated 20-May-2021)

Drugs & Therapeutics for Candidiasis, Familial, 6

Search Clinical Trials , NIH Clinical Center for Candidiasis, Familial, 6

Genetic Tests for Candidiasis, Familial, 6

Genetic tests related to Candidiasis, Familial, 6:

# Genetic test Affiliating Genes
1 Candidiasis, Familial, 6 29 IL17F
2 Candidiasis, Familial, 6, Autosomal Dominant 29

Anatomical Context for Candidiasis, Familial, 6

Publications for Candidiasis, Familial, 6

Articles related to Candidiasis, Familial, 6:

(show all 32)
# Title Authors PMID Year
1
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. 6 57
21350122 2011
2
An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases. 6
30442829 2019
3
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency. 6
30317461 2018
4
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. 6
29111217 2018
5
Rosacea and demodicidosis associated with gain-of-function mutation in STAT1. 6
28622416 2017
6
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants. 6
28011069 2017
7
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 6
28597685 2017
8
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 6
28258222 2017
9
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. 6
27808400 2017
10
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. 6
27577878 2017
11
Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1. 6
27379765 2016
12
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 6
27114460 2016
13
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 6
26743090 2016
14
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. 6
26242301 2016
15
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 6
26604104 2016
16
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. 6
26494717 2015
17
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). 6
26255980 2015
18
Orf Infection in a Patient with Stat1 Gain-of-Function. 6
25367169 2015
19
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. 6
25042743 2014
20
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
21
Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody. 6
25288569 2014
22
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. 6
24343863 2014
23
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. 6
24239102 2014
24
Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations. 6
24188975 2014
25
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. 6
23709754 2013
26
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 6
23541320 2013
27
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. 6
23534974 2013
28
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. 6
22847544 2012
29
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. 6
22730530 2012
30
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. 6
21727188 2011
31
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 6
21714643 2011
32
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. 6
22195034 2011

Variations for Candidiasis, Familial, 6

ClinVar genetic disease variations for Candidiasis, Familial, 6:

6 (show top 50) (show all 175)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT1 NM_007315.3(STAT1):c.857A>T (p.Lys286Ile) SNV Pathogenic 30086 rs387906761 GRCh37: 2:191859874-191859874
GRCh38: 2:190995148-190995148
2 STAT1 NM_007315.3(STAT1):c.604A>G (p.Met202Val) SNV Pathogenic 30087 rs387906762 GRCh37: 2:191862972-191862972
GRCh38: 2:190998246-190998246
3 STAT1 NM_007315.3(STAT1):c.494A>G (p.Asp165Gly) SNV Pathogenic 30089 rs387906764 GRCh37: 2:191864399-191864399
GRCh38: 2:190999673-190999673
4 STAT1 NM_007315.3(STAT1):c.862A>G (p.Thr288Ala) SNV Pathogenic 30090 rs387906765 GRCh37: 2:191859869-191859869
GRCh38: 2:190995143-190995143
5 STAT1 NM_007315.3(STAT1):c.508T>A (p.Tyr170Asn) SNV Pathogenic 30091 rs387906766 GRCh37: 2:191864385-191864385
GRCh38: 2:190999659-190999659
6 STAT1 NM_007315.3(STAT1):c.493G>C (p.Asp165His) SNV Pathogenic 30092 rs387906767 GRCh37: 2:191864400-191864400
GRCh38: 2:190999674-190999674
7 STAT1 NM_007315.3(STAT1):c.606G>A (p.Met202Ile) SNV Pathogenic 30093 rs1559019204 GRCh37: 2:191862970-191862970
GRCh38: 2:190998244-190998244
8 STAT1 NM_007315.3(STAT1):c.812A>C (p.Gln271Pro) SNV Pathogenic 30094 rs387906768 GRCh37: 2:191859919-191859919
GRCh38: 2:190995193-190995193
9 STAT1 NM_007315.3(STAT1):c.537C>A (p.Asn179Lys) SNV Pathogenic 144004 rs587777628 GRCh37: 2:191864356-191864356
GRCh38: 2:190999630-190999630
10 STAT1 NM_007315.3(STAT1):c.854A>G (p.Gln285Arg) SNV Pathogenic 144005 rs587777629 GRCh37: 2:191859877-191859877
GRCh38: 2:190995151-190995151
11 STAT1 NM_139266.2(STAT1):c.832A>G (p.Lys278Glu) SNV Pathogenic 208141 rs863223398 GRCh37: 2:191859899-191859899
GRCh38: 2:190995173-190995173
12 STAT1 NM_007315.3(STAT1):c.1151G>A (p.Gly384Asp) SNV Pathogenic 208142 rs796065052 GRCh37: 2:191851650-191851650
GRCh38: 2:190986924-190986924
13 STAT1 NM_007315.4(STAT1):c.1165G>C (p.Val389Leu) SNV Pathogenic 804296 rs1574648928 GRCh37: 2:191851636-191851636
GRCh38: 2:190986910-190986910
14 STAT1 NM_007315.3(STAT1):c.820C>T (p.Arg274Trp) SNV Pathogenic 30083 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
15 STAT1 NM_007315.3(STAT1):c.800C>T (p.Ala267Val) SNV Pathogenic 30084 rs387906759 GRCh37: 2:191859931-191859931
GRCh38: 2:190995205-190995205
16 STAT1 NM_007315.3(STAT1):c.821G>A (p.Arg274Gln) SNV Pathogenic 30085 rs387906760 GRCh37: 2:191859910-191859910
GRCh38: 2:190995184-190995184
17 IL17F NM_052872.4(IL17F):c.284C>T (p.Ser95Leu) SNV Pathogenic 30589 rs748486078 GRCh37: 6:52101937-52101937
GRCh38: 6:52237139-52237139
18 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met) SNV Pathogenic 144006 rs587777630 GRCh37: 2:191851647-191851647
GRCh38: 2:190986921-190986921
19 STAT1 NM_007315.3(STAT1):c.820C>G (p.Arg274Gly) SNV Pathogenic 160354 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
20 STAT1 NM_007315.3(STAT1):c.520T>C (p.Cys174Arg) SNV Pathogenic 30088 rs387906763 GRCh37: 2:191864373-191864373
GRCh38: 2:190999647-190999647
21 STAT1 NM_007315.3(STAT1):c.866A>G (p.Tyr289Cys) SNV Pathogenic 541825 rs1553496850 GRCh37: 2:191859865-191859865
GRCh38: 2:190995139-190995139
22 STAT1 NM_007315.3(STAT1):c.800C>T (p.Ala267Val) SNV Pathogenic 30084 rs387906759 GRCh37: 2:191859931-191859931
GRCh38: 2:190995205-190995205
23 STAT1 NM_007315.3(STAT1):c.820C>T (p.Arg274Trp) SNV Pathogenic 30083 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
24 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met) SNV Pathogenic 144006 rs587777630 GRCh37: 2:191851647-191851647
GRCh38: 2:190986921-190986921
25 STAT1 NM_007315.3(STAT1):c.821G>A (p.Arg274Gln) SNV Pathogenic 30085 rs387906760 GRCh37: 2:191859910-191859910
GRCh38: 2:190995184-190995184
26 STAT1 NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) Deletion Pathogenic 961842 GRCh37: 2:191855979-191855980
GRCh38: 2:190991253-190991254
27 STAT1 NM_007315.3(STAT1):c.970T>C (p.Cys324Arg) SNV Likely pathogenic 643417 rs1574653439 GRCh37: 2:191856021-191856021
GRCh38: 2:190991295-190991295
28 STAT1 NM_007315.4(STAT1):c.1166T>G (p.Val389Gly) SNV Likely pathogenic 860546 GRCh37: 2:191851635-191851635
GRCh38: 2:190986909-190986909
29 STAT1 NM_007315.4(STAT1):c.856A>C (p.Lys286Gln) SNV Likely pathogenic 848283 GRCh37: 2:191859875-191859875
GRCh38: 2:190995149-190995149
30 STAT1 NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) SNV Likely pathogenic 848760 GRCh37: 2:191859868-191859868
GRCh38: 2:190995142-190995142
31 STAT1 NM_007315.4(STAT1):c.851A>G (p.Glu284Gly) SNV Likely pathogenic 965491 GRCh37: 2:191859880-191859880
GRCh38: 2:190995154-190995154
32 STAT1 NM_007315.3(STAT1):c.1162A>C (p.Lys388Gln) SNV Likely pathogenic 578600 rs1559011859 GRCh37: 2:191851639-191851639
GRCh38: 2:190986913-190986913
33 STAT1 NM_007315.3(STAT1):c.820C>G (p.Arg274Gly) SNV Likely pathogenic 160354 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
34 STAT1 NM_007315.3(STAT1):c.876C>A (p.Asp292Glu) SNV Likely pathogenic 426484 rs1085307649 GRCh37: 2:191859855-191859855
GRCh38: 2:190995129-190995129
35 STAT1 NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) SNV Likely pathogenic 852805 GRCh37: 2:191849073-191849073
GRCh38: 2:190984347-190984347
36 STAT1 NM_007315.3(STAT1):c.970T>C (p.Cys324Arg) SNV Likely pathogenic 643417 rs1574653439 GRCh37: 2:191856021-191856021
GRCh38: 2:190991295-190991295
37 IL21R NM_181078.3(IL21R):c.563del (p.Leu188fs) Deletion Likely pathogenic 976232 GRCh37: 16:27455918-27455918
GRCh38: 16:27444597-27444597
38 IL17F NM_052872.4(IL17F):c.254+1G>T SNV Conflicting interpretations of pathogenicity 225391 rs117796773 GRCh37: 6:52103527-52103527
GRCh38: 6:52238729-52238729
39 IL17F NM_052872.4(IL17F):c.411_412CT[1] (p.Ser138fs) Microsatellite Conflicting interpretations of pathogenicity 539173 rs11465552 GRCh37: 6:52101807-52101808
GRCh38: 6:52237009-52237010
40 STAT1 NM_007315.3(STAT1):c.1222-5T>C SNV Conflicting interpretations of pathogenicity 252674 rs191364028 GRCh37: 2:191850391-191850391
GRCh38: 2:190985665-190985665
41 IL17F NM_052872.4(IL17F):c.254+1G>A SNV Conflicting interpretations of pathogenicity 911491 GRCh37: 6:52103527-52103527
GRCh38: 6:52238729-52238729
42 STAT1 NM_007315.4(STAT1):c.389T>C (p.Ile130Thr) SNV Uncertain significance 937753 GRCh37: 2:191865873-191865873
GRCh38: 2:191001147-191001147
43 STAT1 NM_007315.3(STAT1):c.1090T>C (p.Phe364Leu) SNV Uncertain significance 333283 rs759722579 GRCh37: 2:191854348-191854348
GRCh38: 2:190989622-190989622
44 IL17F NM_052872.4(IL17F):c.199C>A (p.Arg67Ser) SNV Uncertain significance 943201 GRCh37: 6:52103583-52103583
GRCh38: 6:52238785-52238785
45 STAT1 NM_007315.4(STAT1):c.955G>A (p.Val319Met) SNV Uncertain significance 944892 GRCh37: 2:191856036-191856036
GRCh38: 2:190991310-190991310
46 IL17F NM_052872.4(IL17F):c.428T>G (p.Leu143Trp) SNV Uncertain significance 945052 GRCh37: 6:52101793-52101793
GRCh38: 6:52236995-52236995
47 IL17F NM_052872.4(IL17F):c.233C>A (p.Ser78Tyr) SNV Uncertain significance 946538 GRCh37: 6:52103549-52103549
GRCh38: 6:52238751-52238751
48 STAT1 NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln) SNV Uncertain significance 946599 GRCh37: 2:191843599-191843599
GRCh38: 2:190978873-190978873
49 IL17F NM_052872.4(IL17F):c.215G>A (p.Arg72His) SNV Uncertain significance 948947 GRCh37: 6:52103567-52103567
GRCh38: 6:52238769-52238769
50 STAT1 NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) SNV Uncertain significance 951668 GRCh37: 2:191845387-191845387
GRCh38: 2:190980661-190980661

UniProtKB/Swiss-Prot genetic disease variations for Candidiasis, Familial, 6:

72
# Symbol AA change Variation ID SNP ID
1 IL17F p.Ser95Leu VAR_065813 rs748486078

Expression for Candidiasis, Familial, 6

Search GEO for disease gene expression data for Candidiasis, Familial, 6.

Pathways for Candidiasis, Familial, 6

Pathways related to Candidiasis, Familial, 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 STAT1 IL21R
2
Show member pathways
11.94 STAT1 IL17F
3
Show member pathways
11.77 STAT1 IL21R
4
Show member pathways
11.67 STAT1 IL21R IL17F
5 11.38 STAT1 IL17F
6
Show member pathways
11.23 IL21R IL17F
7 11.01 STAT1 IL21R
8
Show member pathways
10.76 STAT1 IL21R IL17F

GO Terms for Candidiasis, Familial, 6

Biological processes related to Candidiasis, Familial, 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.16 STAT1 IL17F
2 negative regulation of angiogenesis GO:0016525 8.96 STAT1 IL17F
3 interleukin-21-mediated signaling pathway GO:0038114 8.62 STAT1 IL21R

Sources for Candidiasis, Familial, 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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