MCID: ATY017
MIFTS: 13

Atypical Mycobacteriosis, Familial, X-Linked 2 malady

Genetic diseases, Blood diseases, Rare diseases categories

Summaries for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Atypical Mycobacteriosis, Familial, X-Linked 2, is also known as x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency An important gene associated with Atypical Mycobacteriosis, Familial, X-Linked 2 is CYBB (cytochrome b-245, beta polypeptide).

Description from OMIM:48 300645

Aliases & Classifications for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section
Sources:
48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

atypical mycobacteriosis, familial, x-linked 2 48
x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency 50
atypical mycobacterial infection, disseminated 63
x-linked msmd due to cybb deficiency 50


External Ids:

OMIM48 300645
ICD10 via Orphanet27 D84.8

Related Diseases for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section

Symptoms for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

300645

Clinical features from OMIM:

300645

Drugs & Therapeutics for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Atypical Mycobacteriosis, Familial, X-Linked 2

Drug clinical trials:

Search ClinicalTrials for Atypical Mycobacteriosis, Familial, X-Linked 2

Search NIH Clinical Center for Atypical Mycobacteriosis, Familial, X-Linked 2

Search CenterWatch for Atypical Mycobacteriosis, Familial, X-Linked 2

Genetic Tests for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section

Anatomical Context for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section

Animal Models for Atypical Mycobacteriosis, Familial, X-Linked 2 or affiliated genes

About this section

Publications for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section

Variations for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Atypical Mycobacteriosis, Familial, X-Linked 2:

65
id Symbol AA change Variation ID SNP ID
1CYBBp.Thr178ProVAR_065365rs151344497
2CYBBp.Gln231ProVAR_065366rs151344498

Clinvar genetic disease variations for Atypical Mycobacteriosis, Familial, X-Linked 2:

1
id Gene Name Type Significance SNP ID Assembly Location
1CYBBNM_000397.3(CYBB): c.692A> C (p.Gln231Pro)single nucleotide variantPathogenicrs151344498GRCh37Chr X, 37658225: 37658225
2CYBBNM_000397.3(CYBB): c.532A> C (p.Thr178Pro)single nucleotide variantPathogenicrs151344497GRCh37Chr X, 37655252: 37655252

Expression for genes affiliated with Atypical Mycobacteriosis, Familial, X-Linked 2

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Atypical Mycobacteriosis, Familial, X-Linked 2

Search GEO for disease gene expression data for Atypical Mycobacteriosis, Familial, X-Linked 2.

Pathways for genes affiliated with Atypical Mycobacteriosis, Familial, X-Linked 2

About this section

Compounds for genes affiliated with Atypical Mycobacteriosis, Familial, X-Linked 2

About this section

GO Terms for genes affiliated with Atypical Mycobacteriosis, Familial, X-Linked 2

About this section

Products for genes affiliated with Atypical Mycobacteriosis, Familial, X-Linked 2

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atypical Mycobacteriosis, Familial, X-Linked 2

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet