CANDF6
MCID: CND037
MIFTS: 29

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 56 73 29 6 71
Candidiasis, Familial, 6, Autosomal Dominant 56 29 13
Candf6 56 73
Autoimmune Enteropathy and Endocrinopathy-Susceptibility to Chronic Infections Syndrome 52
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant 56
Autosomal Dominant Candidiasis Familial Chronic Mucocutaneous 52
Candidiasis Familial Chronic Mucocutaneous Autosomal Dominant 73
Familial Chronic Mucocutaneous, Autosomal Dominant 52
Chronic Mucocutaneous Candidiasis 6 73
Candidiasis, Familial, Type 6 39
Immunodeficiency 31c; Imd31c 52
Candidiasis, Familial, 7 71
Candidiasis Familial, 7 52
Candf7 52

Characteristics:

HPO:

31
candidiasis, familial, 6:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Candidiasis, Familial, 6

NIH Rare Diseases : 52 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. Visit the Orphanet disease page for more resources.

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). Affiliated tissues include skin, heart and thyroid, and related phenotypes are delayed skeletal maturation and short stature

UniProtKB/Swiss-Prot : 73 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

Diseases in the Candidiasis family:

Candidiasis, Familial, 1 Candidiasis, Familial, 2
Candidiasis, Familial, 3 Candidiasis, Familial, 4
Candidiasis, Familial, 6 Candidiasis, Familial, 8
Candidiasis, Familial, 9

Diseases related to Candidiasis, Familial, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 31c 11.8
2 candidiasis, familial, 1 11.7

Symptoms & Phenotypes for Candidiasis, Familial, 6

Human phenotypes related to Candidiasis, Familial, 6:

31 (show all 39)
# Description HPO Frequency HPO Source Accession
1 delayed skeletal maturation 31 hallmark (90%) HP:0002750
2 short stature 31 hallmark (90%) HP:0004322
3 recurrent upper respiratory tract infections 31 hallmark (90%) HP:0002788
4 chronic mucocutaneous candidiasis 31 hallmark (90%) HP:0002728
5 functional abnormality of the bladder 31 hallmark (90%) HP:0000009
6 delayed puberty 31 frequent (33%) HP:0000823
7 type i diabetes mellitus 31 frequent (33%) HP:0100651
8 immunodeficiency 31 frequent (33%) HP:0002721
9 osteopenia 31 frequent (33%) HP:0000938
10 thyroiditis 31 frequent (33%) HP:0100646
11 renovascular hypertension 31 frequent (33%) HP:0100817
12 eczema 31 frequent (33%) HP:0000964
13 diarrhea 31 frequent (33%) HP:0002014
14 hepatosplenomegaly 31 frequent (33%) HP:0001433
15 bronchiectasis 31 frequent (33%) HP:0002110
16 renal artery stenosis 31 frequent (33%) HP:0001920
17 autoimmune hemolytic anemia 31 frequent (33%) HP:0001890
18 b lymphocytopenia 31 frequent (33%) HP:0010976
19 dilatation of the cerebral artery 31 frequent (33%) HP:0004944
20 primary hypothyroidism 31 frequent (33%) HP:0000832
21 immune dysregulation 31 frequent (33%) HP:0002958
22 enterocolitis 31 frequent (33%) HP:0004387
23 recurrent herpes 31 frequent (33%) HP:0005353
24 villous atrophy 31 frequent (33%) HP:0011473
25 generalized osteoporosis 31 frequent (33%) HP:0040160
26 carotid artery dilatation 31 frequent (33%) HP:0012163
27 congestive heart failure 31 occasional (7.5%) HP:0001635
28 hepatitis 31 occasional (7.5%) HP:0012115
29 pulmonary arterial hypertension 31 occasional (7.5%) HP:0002092
30 encephalitis 31 occasional (7.5%) HP:0002383
31 antiphospholipid antibody positivity 31 occasional (7.5%) HP:0003613
32 autoimmune thrombocytopenia 31 occasional (7.5%) HP:0001973
33 esophageal carcinoma 31 occasional (7.5%) HP:0011459
34 patent foramen ovale 31 occasional (7.5%) HP:0001655
35 neutropenia in presence of anti-neutropil antibodies 31 occasional (7.5%) HP:0001904
36 recurrent aspergillus infections 31 occasional (7.5%) HP:0002724
37 medial calcification of large arteries 31 occasional (7.5%) HP:0004966
38 oropharyngeal squamous cell carcinoma 31 occasional (7.5%) HP:0012182
39 abnormal serum interferon-gamma level 31 occasional (7.5%) HP:0030355

Clinical features from OMIM:

613956

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

MalaCards organs/tissues related to Candidiasis, Familial, 6:

40
Skin, Heart, Thyroid

Publications for Candidiasis, Familial, 6

Articles related to Candidiasis, Familial, 6:

# Title Authors PMID Year
1
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. 56 6
21350122 2011

Variations for Candidiasis, Familial, 6

ClinVar genetic disease variations for Candidiasis, Familial, 6:

6 (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IL17F NM_052872.4(IL17F):c.284C>T (p.Ser95Leu)SNV Pathogenic 30589 rs748486078 6:52101937-52101937 6:52237139-52237139
2 IL17F NM_052872.4(IL17F):c.254+1G>TSNV Conflicting interpretations of pathogenicity 225391 rs117796773 6:52103527-52103527 6:52238729-52238729
3 IL17F NC_000006.12:g.(?_52236911)_(52244449_?)dupduplication Uncertain significance 833237 6:52101709-52109247
4 IL17F NM_052872.4(IL17F):c.413C>G (p.Ser138Cys)SNV Uncertain significance 842739 6:52101808-52101808 6:52237010-52237010
5 IL17F NM_052872.4(IL17F):c.392G>A (p.Arg131Gln)SNV Uncertain significance 852457 6:52101829-52101829 6:52237031-52237031
6 IL17F NM_052872.4(IL17F):c.275G>A (p.Arg92Gln)SNV Uncertain significance 849867 6:52101946-52101946 6:52237148-52237148
7 IL17F NM_052872.4(IL17F):c.91C>T (p.Arg31Trp)SNV Uncertain significance 859598 6:52103691-52103691 6:52238893-52238893
8 IL17F NM_052872.4(IL17F):c.37A>G (p.Lys13Glu)SNV Uncertain significance 844625 6:52103745-52103745 6:52238947-52238947
9 IL17F NM_052872.4(IL17F):c.456C>T (p.Cys152=)SNV Uncertain significance 910270 6:52101765-52101765 6:52236967-52236967
10 IL17F NM_052872.4(IL17F):c.427T>C (p.Leu143=)SNV Uncertain significance 911489 6:52101794-52101794 6:52236996-52236996
11 IL17F NM_052872.4(IL17F):c.200G>A (p.Arg67His)SNV Uncertain significance 908518 6:52103582-52103582 6:52238784-52238784
12 IL17F NM_052872.4(IL17F):c.254+10A>GSNV Uncertain significance 911490 6:52103518-52103518 6:52238720-52238720
13 IL17F NM_052872.4(IL17F):c.388G>A (p.Val130Ile)SNV Uncertain significance 569602 rs141798304 6:52101833-52101833 6:52237035-52237035
14 IL17F NM_052872.4(IL17F):c.53C>T (p.Ser18Leu)SNV Uncertain significance 582871 rs145598353 6:52103729-52103729 6:52238931-52238931
15 IL17F NM_052872.4(IL17F):c.391C>T (p.Arg131Trp)SNV Uncertain significance 660654 6:52101830-52101830 6:52237032-52237032
16 IL17F NM_052872.4(IL17F):c.140G>T (p.Cys47Phe)SNV Uncertain significance 646441 6:52103642-52103642 6:52238844-52238844
17 IL17F NM_052872.4(IL17F):c.123C>G (p.Phe41Leu)SNV Uncertain significance 648005 6:52103659-52103659 6:52238861-52238861
18 IL17F NM_052872.4(IL17F):c.223G>A (p.Glu75Lys)SNV Uncertain significance 357472 rs373228601 6:52103559-52103559 6:52238761-52238761
19 IL17F NM_052872.4(IL17F):c.469C>T (p.Pro157Ser)SNV Uncertain significance 357467 rs144576902 6:52101752-52101752 6:52236954-52236954
20 IL17F NM_052872.4(IL17F):c.243C>G (p.Pro81=)SNV Uncertain significance 357471 rs769617558 6:52103539-52103539 6:52238741-52238741
21 IL17F NM_052872.4(IL17F):c.-6C>TSNV Uncertain significance 357473 rs764936954 6:52109233-52109233 6:52244435-52244435
22 IL17F NM_052872.4(IL17F):c.159T>C (p.Gly53=)SNV Likely benign 764082 6:52103623-52103623 6:52238825-52238825
23 IL17F NM_052872.4(IL17F):c.411_412CT[1] (p.Ser138fs)short repeat Likely benign 539173 rs11465552 6:52101807-52101808 6:52237009-52237010
24 IL17F NM_052872.4(IL17F):c.254+5G>CSNV Likely benign 575683 rs571390206 6:52103523-52103523 6:52238725-52238725
25 IL17F NM_052872.4(IL17F):c.222C>T (p.Ile74=)SNV Benign 471811 rs6931727 6:52103560-52103560 6:52238762-52238762
26 IL17F NM_052872.4(IL17F):c.254+1G>ASNV Benign 911491 6:52103527-52103527 6:52238729-52238729
27 IL17F NM_052872.4(IL17F):c.*123C>TSNV Benign 357465 rs189630805 6:52101606-52101606 6:52236808-52236808
28 IL17F NM_052872.4(IL17F):c.463G>A (p.Val155Ile)SNV Benign 357468 rs11465553 6:52101758-52101758 6:52236960-52236960
29 IL17F NM_052872.4(IL17F):c.-48T>CSNV Benign 357474 rs140679432 6:52109275-52109275 6:52244477-52244477
30 IL17F NM_052872.4(IL17F):c.*136A>GSNV Benign 357464 rs11465554 6:52101593-52101593 6:52236795-52236795
31 IL17F NM_052872.4(IL17F):c.482A>G (p.His161Arg)SNV Benign 357466 rs763780 6:52101739-52101739 6:52236941-52236941
32 IL17F NM_052872.4(IL17F):c.377A>G (p.Glu126Gly)SNV Benign 357469 rs2397084 6:52101844-52101844 6:52237046-52237046
33 IL17F NM_052872.4(IL17F):c.*243T>GSNV Benign 357463 rs1953325 6:52101486-52101486 6:52236688-52236688
34 IL17F NM_052872.4(IL17F):c.318C>T (p.Gly106=)SNV Benign 357470 rs148940532 6:52101903-52101903 6:52237105-52237105

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

73
# 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

GO Terms for Candidiasis, Familial, 6

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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