X-linked mendelian susceptibility to mycobacterial diseases
Synonyms: X-linked MSMD
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
X-linked (XR) Mendelian susceptibility to mycobacterial diseases (MSMD) describes a rare group of immunodeficiencies due to specific mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (<i>IKBKG</i>) or the cytochrome b-245, beta polypeptide (<i>CYBB</i>) genes. They are characterized by mycobacterial infections, occuring in males.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked mendelian susceptibility to mycobacterial diseases | X-linked MSMD |
| fr | Prédisposition mendélienne liée à l'X aux infections mycobactériennes | MSMD liée à l'X |
| de | Suszeptibilität für Mykobakteriosen, X-chromosomal | MSMD, X-chromosomal · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien, X-chromosomal |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas ligada al cromosoma X | MSMD ligada al cromosoma X |
| it | Suscettibilità mendeliana a malattie micobatteriche legata all'X | MSMD legata all'X |
| nl | X-gebonden Mendeliaanse gevoeligheid voor mycobacteriële ziekten | X-gebonden MSMD |
| pt | Susceptibilidade mendeliana a doenças micobacterianas ligada ao X | |
| pl | Mendlowska podatność na choroby mykobakteryjne sprzężona z chromosomem X | MSMD sprzężona z chromosomem X |
| cs | X-vázaná genetická vnímavost k mykobakteriální infekci | X-vázaná MSMD |
| uk | Х-зчеплена менделівська схильність до мікобактеріальних захворювань | Х-зчеплена MSMD |
| zh | 孟德尔X连锁遗传易感分枝杆菌病 | X连锁MSMD |
| tr | Mikobakteriyel hastalıklara X'e bağlı Mendel tipi yatkınlık | X'e bağlı MSMD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300645 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A00.2 | NTBT | index | validated |
| MONDO | 0017905 | E | validated | |
| UMLS | C4304413 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:748Mendelian susceptibility to mycobacterial diseases
rare genetic diseases; rare immunological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:319623OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CYBB | Disease-causing germline mutation(s) in | Assessed | HGNC:2578 | ENSG00000165168 | 300481 | Xp21.1-p11.4 | cytochrome b-245 beta chain | 21278736[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 21278736[PMID]_16818673[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21278736[PMID]_16818673[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319605
- This record as JSON: /data/d/319605.json