MCID: ATY017
MIFTS: 13

Atypical Mycobacteriosis, Familial, X-Linked 2 malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Atypical Mycobacteriosis, Familial, X-Linked 2

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47OMIM, 33MalaCards
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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:47 300645

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

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Sources:
47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet
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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 47
x-linked mendelian susceptibility to mycobacterial diseases due to cybb deficiency 49
atypical mycobacterial infection, disseminated 62
x-linked msmd due to cybb deficiency 49


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OMIM47 300645
ICD10 via Orphanet26 D84.8

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

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Symptoms for Atypical Mycobacteriosis, Familial, X-Linked 2

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47OMIM
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Symptoms by clinical synopsis from OMIM:

300645

Clinical features from OMIM:

300645

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

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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

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

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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Variations for Atypical Mycobacteriosis, Familial, X-Linked 2

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Atypical Mycobacteriosis, Familial, X-Linked 2:

64
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

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Atypical Mycobacteriosis, Familial, X-Linked 2

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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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet