Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Synonyms: MSMD due to complete RORgamma receptor defiency · Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency · Primary immunodeficiency due to RORC mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare primary immunodeficiency characterized by increased susceptibility to infections with <i>candida albicans</i> and weakly pathogenic mycobacteria, such as <i>mycobacterium bovis</i>. Patients present in infancy with chronic mucocutaneous candidiasis of varying severity, disseminated mycobacterial disease, absence of palpable axillary and cervical lymph nodes, reduced thymus size, and variable hepatosplenomegaly. The immunological phenotype comprises mild T-cell lymphopenia, absence of type 1 natural killer T-cells and mucosal-associated invariant T-cells, and low levels of type 3 innate lymphoid cells.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency | MSMD due to complete RORgamma receptor defiency · Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency · Primary immunodeficiency due to RORC mutation |
| fr | Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur RORgamma | Déficit immunitaire primaire dû à une mutation de RORC · Prédisposition mendélienne aux infections mycobactériennes par déficit complet protéine RAR related orphan receptor C · SSMIM par déficit complet en récepteur RORgamma · Syndrome de susceptibilité mendélienne aux infections mycobactériennes sévère par déficit complet en récepteur RORgamma |
| de | Suszeptibilität für Mykobakteriosen durch kompletten RORgamma-Rezeptor-Mangel | MSMD durch vollständigen RORgamma-Rezeptor-Mangel · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem RAR-bezogenen Orphan-Rezeptor-C-Mangel · Primärer Immundefekt durch RORC-Genmutation |
| es | Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del receptor RORgamma | Inmunodeficiencia primaria por una mutación en el gen RORC · SMEM por deficiencia completa del receptor RORgamma · Susceptibilidad mendeliana a enfermedades micobacterianas por deficiencia completa del receptor huérfano C relacionado con RAR |
| it | Malattia da suscettibilità mendeliana ai micobatteri da deficienza completa del recettore RORgamma | Suscettibilità mendeliana alle malattie micobatteriche da deficit completo del recettore orfano C correlato a RAR · Immunodeficienza primaria da mutazione RORC · MSMD da deficienza completa del recettore RORgamma |
| nl | Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige deficiëntie van RORgamma-receptor | MSMD door volledige deficiëntie van RORgamma-receptor · Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige deficiëntie van RAR-gerelateerde weesreceptor C · Primaire immuundeficiëntie door RORC-mutatie |
| pt | Suscetibilidade mendeliana a doenças infeciosas devida a deficiência completa de recetor RORgama autossómica recessiva | Imunodeficiência primária devido a mutação RORC · MSMD devido a deficiência completa de recetor RORgama · Suscetibilidade mendeliana a doenças micobacterianas devido à deficiência completa do recetor C órfão relacionado com o RAR |
| pl | Autosomalna recesywna mendelowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru receptora RORgamma | Autosomalna recesywna MSMD z powodu całkowitego niedoboru receptora RORgamma · Autosomalny recesywny niedobór odporności spowodowany mutacją RORC |
| cs | Autozomálně recesivní náchylnost k mykobateriózám s mendelovskou dědičností z důvodu kompletního RORC deficitu | Autosomal recessive primary immunodeficiency due to RORC mutation · Autosomal recessive MSMD due to complete RORgamma receptor defiency · Autozomálně recesivní primární imunodeficience způsobená mutací RORC · Autozomálně recesivní MSMD způsobená kompletní deficiencí receptoru RORgamma |
| uk | Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань, зумовлена повним дефіцитом рецептора RORgamma | Аутосомно-рецесивна MSMD внаслідок повного дефіциту рецептора RORgamma · Аутосомно-рецесивний первинний імунодефіцит, зумовлений мутацією RORC |
| zh | RORγ受体缺陷导致的常染色体隐性遗传的分枝杆菌病易感 | RORγ受体完全缺失导致的常染色体隐性遗传的分枝杆菌病易感 |
| tr | Tam RORgamma reseptör eksikliğine bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık | RORC mutasyonuna bağlı otozomal çekinik primer immün yetmezlik · Tam RAR gama reseptör eksikliğine bağlı otozomal çekinik MSMD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616622 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| MONDO | 0014710 | E | validated | |
| UMLS | C5567647 | 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:319535Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RORC | Disease-causing germline mutation(s) in | Assessed | HGNC:10260 | ENSG00000143365 | 602943 | 1q21.3 | RAR related orphan receptor C | 26160376[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 26160376[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26160376[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/477857
- This record as JSON: /data/d/477857.json