ORPHA:247798
MUTYH-related polyposis
Synonyms: MUTYH-related adenomatous polyposis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MUTYH-related polyposis | MUTYH-related adenomatous polyposis |
| fr | Polypose associée à MUTYH | Polypose adénomateuse associée à MUTYH |
| de | MUTYH-assoziierte Polyposis | MUTYH-abhängige AFAP · MUTYH-abhängige FAP · MUTYH-abhängige adenomatöse Polyposis |
| es | Poliposis asociada a MUTYH | Poliposis adenomatosa asociada a MUTYH |
| it | Poliposi adenomatosa familiare attenuata legata a MUTYH | AFAP legata a MUTYH · FAP attenuata legata a MUTYH · Poliposi rettocolica familiare attenuata legata a MUTYH |
| nl | MUTYH-gerelateerde polyposis | MUTYH-gerelateerde adenomateuze polyposis |
| pt | Polipose MUTYH-relacionada | Polipose adenomatosa MUTYH-relacionada |
| pl | Postać poronna rodzinnej polipowatości gruczolakowatej związana MUTYH | AFAP związana z MUTYH · Poronna postać FAP związana z MUTYH · Postać poronna rodzinnej polipowatości jelita grubego związana z MUTYH |
| cs | MUTYCH vázaná atenuovaná familiární adenomatózní polypóza | AFAP spojená s mutací genu MUTYH · Atenuovaná FAP spojená s mutací genu MUTYH · Atenuovaná familiární polypóza tlustého střeva spojená s mutací genu MUTYH |
| uk | Атенуйований сімейний аденоматозний поліпоз, повязаний з MUTYH | AFAP, повязана з MUTYH · Атенуйований сімейний поліпозний коліт, повязаний з MUTYH · Атенуйований ФАП, повязаний з MUTYH |
| zh | MUTYH基因相关轻型家族性腺瘤性息肉病 | MUTYH基因相关轻型家族性息肉病 |
| tr | MUTYH-ilişkili zayıflatılmış ailesel adenomatöz polipoz | MUTYH-ilişkili AFAP · MUTYH-ilişkili zayıflatılmış FAP · MUTYH-ilişkili zayıflatılmış ailesel polipoz koli |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608456 | E | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | 2B90.Y | NTBT | attributed | validated |
| MONDO | 0012041 | E | validated | |
| MeSH | C563924 | E | validated | |
| UMLS | C3272841 | E | validated | |
| GARD | 10805 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MUTYH | Disease-causing germline mutation(s) in | Assessed | HGNC:7527 | ENSG00000132781 | 604933 | 1p34.1 | mutY DNA glycosylase | 17489848[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
7 annotations · validated 2019-01-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200063 | Colorectal polyposis | |
| Frequent (79-30%) | ||
| HP:0040276 | Adenocarcinoma of the colon | |
| HP:0005227 | Adenomatous colonic polyposis | |
| HP:0030255 | Large intestinal polyposis | |
| HP:0100896 | Rectal polyposis | |
| Very rare (<4-1%) | ||
| HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | |
| Excluded (0%) | ||
| HP:0100245 | Desmoid tumors | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 12606733[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247798
- This record as JSON: /data/d/247798.json