ORPHA:144
Lynch syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare form of hereditary nonpolyposis colon cancer (HNPCC) characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors. LS-associated tumors are typically characterized by the presence of microsatellite instability (MSI) and loss of expression of MMR proteins in tumor tissue.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lynch syndrome | |
| fr | Syndrome de Lynch | |
| de | Lynch-Syndrom | |
| es | Síndrome de Lynch | |
| it | Sindrome di Lynch | |
| nl | Syndroom van Lynch | |
| pt | Síndrome Lynch | |
| pl | Zespół Lyncha | |
| cs | Lynchův syndrom | |
| uk | Синдром Лінча | |
| zh | 林奇综合征 | |
| tr | Lynch sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 120435 | E | validated | |
| OMIM | 609310 | BTNT | validated | |
| OMIM | 613244 | BTNT | validated | |
| OMIM | 614331 | BTNT | validated | |
| OMIM | 614337 | BTNT | validated | |
| OMIM | 614350 | BTNT | validated | |
| OMIM | 614385 | BTNT | validated | |
| ICD-10 | C18.0 | NTBT | attributed | validated |
| ICD-10 | C18.1 | NTBT | attributed | validated |
| ICD-10 | C18.2 | NTBT | attributed | validated |
| ICD-10 | C18.3 | NTBT | attributed | validated |
| ICD-11 | 2B90.Y | NTBT | attributed | validated |
| MONDO | 0005835 | E | validated | |
| MeSH | D003123 | E | validated | |
| UMLS | C4552100 | E | validated | |
| GARD | 9905 | E | validated | |
| MedDRA | 10051981 | 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:443909Hereditary nonpolyposis colon cancer
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:587Muir-Torre syndrome moved to · inactive
- ORPHA:99817Non-polyposis Turcot syndrome moved to · inactive
4
Genes
9 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KRAS | Biomarker tested in | Assessed | HGNC:6407 | ENSG00000133703 | 190070 | 12p12.1 | KRAS proto-oncogene, GTPase | 19731079[PMID] |
| PIK3CA | Biomarker tested in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 19731079[PMID] |
| PMS1 | Candidate gene tested in | Not yet assessed | HGNC:9121 | ENSG00000064933 | 600258 | 2q32.2 | PMS1 homolog 1, mismatch repair system component | |
| TGFBR2 | Candidate gene tested in | Not yet assessed | HGNC:11773 | ENSG00000163513 | 190182 | 3p24.1 | transforming growth factor beta receptor 2 | |
| EPCAM | Disease-causing germline mutation(s) in | Assessed | HGNC:11529 | ENSG00000119888 | 185535 | 2p21 | epithelial cell adhesion molecule | 21769135[PMID]_23938213[PMID]_20301390[PMID] |
| MLH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7127 | ENSG00000076242 | 120436 | 3p22.2 | mutL homolog 1 | 23100212[PMID]_26149658[PMID]_20301390[PMID] |
| MSH2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7325 | ENSG00000095002 | 609309 | 2p21-p16.3 | mutS homolog 2 | 22234272[PMID]_26076155[PMID]_20301390[PMID] |
| MSH6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7329 | ENSG00000116062 | 600678 | 2p16.3 | mutS homolog 6 | 25318681[PMID]_20301390[PMID] |
| PMS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:9122 | ENSG00000122512 | 600259 | 7p22.1 | PMS1 homolog 2, mismatch repair system component | 18602922[PMID]_20301390[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
6
HPO phenotypes
62 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0009720 | Adenoma sebaceum | |
| HP:0002019 | Constipation | |
| HP:0012378 | Fatigue | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0012174 | Glioblastoma multiforme | |
| HP:0002024 | Malabsorption | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0003003 | Colon cancer | |
| HP:0100613 | Death in early adulthood | |
| HP:0001522 | Death in infancy | |
| HP:0000716 | Depression | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0000737 | Irritability | |
| HP:0002076 | Migraine | |
| HP:0002017 | Nausea and vomiting | |
| HP:0100743 | Neoplasm of the rectum | |
| HP:0006753 | Neoplasm of the stomach | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0010524 | Agnosia | |
| HP:0100576 | Amaurosis fugax | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0100835 | Benign neoplasm of the central nervous system | |
| HP:0003002 | Breast carcinoma | |
| HP:0100571 | Cardiac diverticulum | |
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0010526 | Dysgraphia | |
| HP:0100660 | Dyskinesia | |
| HP:0012114 | Endometrial carcinoma | |
| HP:0001371 | Flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0000738 | Hallucinations | |
| HP:0004377 | Hematological neoplasm | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0200008 | Intestinal polyposis | |
| HP:0012118 | Laryngeal carcinoma | |
| HP:0006758 | Malignant genitourinary tract tumor | |
| HP:0002354 | Memory impairment | |
| HP:0002896 | Neoplasm of the liver | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0010622 | Neoplasm of the skeletal system | |
| HP:0100031 | Neoplasm of the thyroid gland | |
| HP:0003006 | Neuroblastoma | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0006725 | Pancreatic adenocarcinoma | |
| HP:0003401 | Paresthesia | |
| HP:0002893 | Pituitary adenoma | |
| HP:0009726 | Renal neoplasm | |
| HP:0100684 | Salivary gland neoplasm | |
| HP:0010786 | Urinary tract neoplasm | |
| HP:0001123 | Visual field defect | |
| HP:0000505 | Visual impairment | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/144
- This record as JSON: /data/d/144.json