MCID: CND026

Candidiasis, Familial, 2, Autosomal Recessive malady

Genetic diseases, Skin diseases, Blood diseases, Rare diseases categories
Download this MalaCard

Summaries for Candidiasis, Familial, 2, Autosomal Recessive

About this section


Fully expand this MalaCard
MalaCards based summary: Candidiasis, Familial, 2, Autosomal Recessive and has symptoms including An important gene associated with Candidiasis, Familial, 2, Autosomal Recessive is CARD9 (caspase recruitment domain family, member 9).

Description from OMIM:46 212050

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

About this section

Candidiasis, Familial, 2, Autosomal Recessive, Aliases & Descriptions:

Name: Candidiasis, Familial, 2, Autosomal Recessive 46


Classifications:

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


Related Diseases for Candidiasis, Familial, 2, Autosomal Recessive

About this section

Symptoms for Candidiasis, Familial, 2, Autosomal Recessive

About this section

Symptoms by clinical synopsis from OMIM:

212050

Clinical features from OMIM:

212050

HPO human phenotypes related to Candidiasis, Familial, 2, Autosomal Recessive:

(show all 7)
id Description Frequency HPO Source Accession
1 meningitis rare (5%) HP:0001287
2 autosomal recessive inheritance HP:0000007
3 abnormality of the nail HP:0001597
4 abnormality of blood and blood-forming tissues HP:0001871
5 immunodeficiency HP:0002721
6 chronic oral candidiasis HP:0009098
7 onychomycosis HP:0012203

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

About this section

Drug clinical trials:

Search ClinicalTrials for Candidiasis, Familial, 2, Autosomal Recessive

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

Genetic Tests for Candidiasis, Familial, 2, Autosomal Recessive

About this section

Anatomical Context for Candidiasis, Familial, 2, Autosomal Recessive

About this section

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

About this section

Publications for Candidiasis, Familial, 2, Autosomal Recessive

About this section

Variations for Candidiasis, Familial, 2, Autosomal Recessive

About this section

UniProtKB/Swiss-Prot genetic disease variations for Candidiasis, Familial, 2, Autosomal Recessive:

64
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:

6
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

About this section
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Candidiasis, Familial, 2, Autosomal Recessive

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet