ORPHA:319535

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Synonyms: Autosomal recessive MSMD due to a complete deficiency

Type: Category
Group: Group of disorders
Inheritance: Autosomal recessive
Age of onset: All ages
Status: active

A group of genetic variants of mendelian susceptibility to mycobacterial diseases (MSMD) comprised of MSMD due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency, complete IFN-gammaR2 deficiency, complete interleukin-12 subunit beta (IL12B) deficiency, complete interleukin-12 receptor subunit beta-1 (IL-12RB1) deficiency and complete ISG15 deficiency.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	Autosomal recessive MSMD due to a complete deficiency
fr	Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit complet
de	Autosomal-rezessive Suszeptibilität für Mykobakteriosen durch kompletten Defekt	MSMD durch kompletten Defekt, autosomal-rezessiv · Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Mangel, autosomal-rezessiv
es	Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por deficiencia completa	MSMD autosómica recesiva por deficiencia completa
it	Suscettibilità mendeliana autosomica recessiva a malattie micobatteriche da deficit completo	MSMD autosomica recessiva da deficit completo
nl	Autosomaal recessieve mendeliaanse gevoeligheid voor mycobacteriële ziekten door een volledige deficiëntie	Autosomaal recessieve MSMD door een volledige deficiëntie
pt	Suscetibilidade mendeliana autossómica recessiva a doenças micobacterianas por deficiência completa
pl	Autosomalna recesywna mendlowska podatność na choroby mykobakteryjne z powodu całkowitego niedoboru	Autosomalna recesywna MSMD z powodu całkowitego niedoboru
cs	Autozomálně recesivní genetická vnímavost k mykobakteriální infekci způsobená úplným deficitem	Autozomálně recesivní MSMD způsobená úplným deficitem
uk	Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань внаслідок повного дефіциту	Аутосомно-рецесивна MSMD внаслідок повного дефіциту
zh	完全缺陷所致孟德尔常染色体隐性遗传易感分枝杆菌病	完全缺陷所致常染色体隐性遗传MSMD
tr	Tam bir eksikliğe bağlı olarak mikobakteriyel hastalıklara otozomal resesif Mendel tipi yatkınlık	Tam bir eksikliğe bağlı otozomal çekinik MSMD

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	17897	E		validated
UMLS	C5679890	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):

ORPHA:98004Rare immune disease

Parents in the classifications (1):

ORPHA:748Mendelian susceptibility to mycobacterial diseases
rare genetic diseases; rare immunological diseases

Children (8):

Codes that Orphanet moved or referred to this one:

ORPHA:686447OBSOLETE: IFNG-responsive severe mendelian susceptibility to mycobacterial diseases referred to · inactive

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Not yet validated	ORPHANET

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/319535
This record as JSON: /data/d/319535.json