ORPHA:699618

Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency

Synonyms: Severe MSMD due to complete IFNG deficiency · Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Childhood, Infancy
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency	Severe MSMD due to complete IFNG deficiency · Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency
fr	Sévère prédisposition mendélienne aux infections mycobactériennes par déficit complet en IFNG	SSMIM sévère par déficit complet en IFNG · Syndrome de susceptibilité mendélienne aux infections mycobactériennes sévère par déficit complet en IFNG · Sévère prédisposition mendélienne aux infections mycobactériennes par déficit complet en interféron gamma
de	Suszeptibilität für Mykobakteriosen durch kompletten IFNG-Mangel	Mendelsche Anfälligkeit für Krankheiten durch Mykobakterien bei vollständigem Interferon-gamma-Mangel · Schwere MSMD durch vollständige IFNG-Defizienz
es	Susceptibilidad mendeliana grave a enfermedades micobacterianas por deficiencia completa de IFNG	SMEM grave por deficiencia completa de IFNG · Susceptibilidad mendeliana grave a enfermedades micobacterianas por deficiencia completa de interferón gamma
it	Grave predisposizione mendeliana alle malattie micobatteriche da deficit completo di IFNG	MSMD grave da deficit completo di IFNG · Grave predisposizione mendeliana alle malattie micobatteriche da deficit completo di interferone gamma
nl	Ernstige Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige IFNG-deficiëntie	Ernstige MSMD door volledige IFNG-deficiëntie · Ernstige Mendeliaanse gevoeligheid voor mycobacteriële ziekten door volledige deficiëntie van interferon gamma
pt	Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency
pl	Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency	= en
cs	Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618963	E		validated
ICD-10	D84.8	NTBT	attributed	not yet validated
ICD-11	4A00.2	NTBT	attributed	not yet 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: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
IFNG	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:5438	ENSG00000111537	147570	12q15	interferon gamma	32163377[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		2 cases	Worldwide	Case(s)	Validated	32163377[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	32163377[PMID]_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/699618
This record as JSON: /data/d/699618.json