MCID: ATY017
MIFTS: 19

Atypical Mycobacteriosis, Familial, X-Linked 2 malady

Blood diseases, Genetic diseases categories

Summaries for Atypical Mycobacteriosis, Familial, X-Linked 2

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46OMIM, 32MalaCards
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MalaCards: Atypical Mycobacteriosis, Familial, X-Linked 2, also known as x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency, is related to atypical mycobacteriosis, familial and familial atypical mycobacteriosis, x-linked 1. An important gene associated with Atypical Mycobacteriosis, Familial, X-Linked 2 is CYBB (cytochrome b-245, beta polypeptide).

Description from OMIM:46 300645

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

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Sources:
60UMLS, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Aliases & Descriptions:

atypical mycobacteriosis, familial, x-linked 2 46
x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency 48
atypical mycobacterial infection, disseminated 60
x-linked msmd due to cybb deficiency 48


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OMIM46 300645
ICD10 via Orphanet26 D84.8

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

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Atypical Mycobacteriosis, Familial, X-Linked 2:



Diseases related to atypical mycobacteriosis, familial, x-linked 2

Clinical Features for Atypical Mycobacteriosis, Familial, X-Linked 2

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46OMIM
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Clinical features from OMIM:

300645

Clinical synopsis from OMIM:

300645

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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

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

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Publications for Atypical Mycobacteriosis, Familial, X-Linked 2

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Atypical Mycobacteriosis, Familial, X-Linked 2:

62
id Symbol AA change Variation ID SNP ID
1CYBBp.Thr178ProVAR_065365rs151344497
2CYBBp.Gln231ProVAR_065366rs151344498

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

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Atypical Mycobacteriosis, Familial, X-Linked 2

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet