ORPHA:661526

MBD4-related tumor predisposition syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	MBD4-related tumor predisposition syndrome
fr	Prédisposition au développement de tumeurs liée à MBD4
de	MBD4-assoziiertes Tumorprädispositionssyndrom
es	Síndrome de predisposición tumoral asociado al gen MBD4
it	Sindrome da predisposizione ai tumori correlata a MBD4
nl	MBD4-gerelateerd tumorpredispositiesyndroom
pt	Síndrome de predisposição tumoral MBD4-relacionada
pl	Zespół predyspozycji do nowotworów związany z MBD4
cs	Syndrom nádorové predispozice související s MBD4
uk	Синдром схильності до пухлин, повязаний з MBD4

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	619975	E		validated
ICD-10	C18.8	NTBT	attributed	validated
ICD-11	2A60.Y	NTBT	attributed	validated
MONDO	0859267	E		validated
MONDO	859267	E		validated
UMLS	C5925126	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MBD4	Disease-causing germline mutation(s) in	Assessed	HGNC:6919	ENSG00000129071	603574	3q21.3	methyl-CpG binding domain 4, DNA glycosylase	35460607[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 families	Worldwide	Family(ies)	Validated	35460607[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	30049810[PMID]_31322271[PMID]_35460607[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.

Orphanet has no HPO annotation for this code in this release.