ORPHA:480536
MSH3-related polyposis
Synonyms: MSH3-related adenomatous polyposis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | MSH3-related polyposis | MSH3-related adenomatous polyposis |
| fr | Polypose associée à MSH3 | Polypose adénomateuse associée à MSH3 |
| de | MSH3-assoziierte Polyposis | MSH3-abhängige adenomatöse Polyposis |
| es | Poliposis asociada a MSH3 | Poliposis adenomatosa asociada a MSH3 |
| it | Poliposi adenomatosa familiare attenuata correlata a MSH3 | |
| nl | MSH3-gerelateerde polyposis | MSH3-gerelateerde adenomateuze polyposis |
| pt | Polipose MSH3-relacionada | Polipose adenomatosa MSH3-relacionada |
| pl | Rodzinna atenuowana polipowatość gruczolakowata zależna od MSH3 | AFAP zależna od MSH3 · Atenuowana AFAP zależna od MSH3 · Rodzinna atenuowana polipowatość zależna od MSH3 |
| cs | MSH3-vázaná atenuovaná familiární adenomatózní polypóza | MSH3-related AFAP · MSH3-related attenuated FAP · MSH3-related attenuated familial polyposis coli · MSH3-vázaná AFAP · MSH3-vázaná atenuovaná FAP · MSH3-vázaná atenuovaná familiární polyposis coli |
| uk | Помірний сімейний аденоматозний поліпоз, повязаний з MSH3 | AFAP, повязана з MSH3 · MSH3-асоційований атенуйований сімейний поліпозний кишковий паличкоподібний грибок · MSH3-залежний ослаблений FAP |
| zh | MSH3相关家族性腺瘤性息肉病 | MSH3相关家族性结肠息肉病 |
| tr | MSH3 -ilişkili zayıflatılmış ailesel adenomatöz polipoz | MSH3-ilişkili AFAP · MSH3-ilişkili attenuated FAP · MSH3-ilişkili zayıflatılmış ailesel polipoz koli |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617100 | E | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | 2B90.Y | NTBT | attributed | validated |
| MONDO | 0018812 | E | validated | |
| MONDO | 18812 | E | validated | |
| MONDO | 44300 | E | validated | |
| UMLS | C4310719 | 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 |
|---|---|---|---|---|---|---|---|---|
| MSH3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7326 | ENSG00000113318 | 600887 | 5q14.1 | mutS homolog 3 | 27476653[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27476653[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27476653[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
14 annotations · validated 2018-12-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005227 | Adenomatous colonic polyposis | |
| HP:0200063 | Colorectal polyposis | |
| HP:0004784 | Juvenile gastrointestinal polyposis | |
| Frequent (79-30%) | ||
| HP:0009592 | Astrocytoma | |
| HP:0003003 | Colon cancer | |
| HP:0004394 | Multiple gastric polyps | |
| HP:0100743 | Neoplasm of the rectum | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0012740 | Papilloma | |
| HP:0012126 | Stomach cancer | |
| HP:0000854 | Thyroid adenoma | |
| HP:0000131 | Uterine leiomyoma | |
| Occasional (29-5%) | ||
| HP:0025274 | Ovarian dermoid cyst | |
| HP:0000107 | Renal cyst | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 27476653[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480536
- This record as JSON: /data/d/480536.json