ORPHA:252202

Constitutional mismatch repair deficiency syndrome

Synonyms: CMMR-D syndrome

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

Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Constitutional mismatch repair deficiency syndrome	CMMR-D syndrome
fr	Syndrome de déficit constitutionnel de la réparation des mésappariements
de	Mismatch-Reparatur-Defizienz-Syndrom, konstitutionelles	CMMR-D-Syndrom
es	Síndrome constitucional de deficiencia de reparación de errores de emparejamiento
it	Sindrome da deficit congenito del sistema di riparazione malappaiamenti
nl	Constitutionele 'mismatch repair'-deficiëntie-syndroom	CMMR-D-syndroom
pt	Síndrome de deficiência constitucional da reparação dos erros de emparelhamento	Síndrome CMMR-D
pl	Constitutional mismatch repair deficiency syndrome	Zespół CMMR-D
cs	Syndrom konstitučního deficitu mismatch repair mechanismů	CMMR-D syndrom
uk	Синдром дефіциту репарації конституціональної невідповідності	Синдром CMMR-D
zh	体质性错配修复缺失综合征	CMMR-D综合征
tr	Yapısal uyumsuzluk onarım eksikliği sendromu	CMMR-D sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	276300	BTNT		validated
OMIM	619096	BTNT		validated
OMIM	619097	BTNT		validated
OMIM	619101	BTNT		validated
ICD-10	D80.8	NTBT	attributed	validated
MONDO	31219	E		validated
UMLS	C4321324	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:98006Rare neurologic disease

Parents in the classifications (3):

ORPHA:331240Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases

No children.

Genes

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MLH1	Disease-causing germline mutation(s) in	Assessed	HGNC:7127	ENSG00000076242	120436	3p22.2	mutL homolog 1	20442441[PMID]
MSH2	Disease-causing germline mutation(s) in	Assessed	HGNC:7325	ENSG00000095002	609309	2p21-p16.3	mutS homolog 2	20442441[PMID]_23483711[PMID]
MSH6	Disease-causing germline mutation(s) in	Assessed	HGNC:7329	ENSG00000116062	600678	2p16.3	mutS homolog 6	20442441[PMID]_23483711[PMID]
PMS2	Disease-causing germline mutation(s) in	Assessed	HGNC:9122	ENSG00000122512	600259	7p22.1	PMS1 homolog 2, mismatch repair system component	20442441[PMID]_23483711[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		200 cases	Worldwide	Case(s)	Validated	ORPHANET
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	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/252202
This record as JSON: /data/d/252202.json