Hereditary nonpolyposis colon cancer
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HNPCC Familial nonpolyposis colorectal cancer Hereditary nonpolyposis colorectal cancer Familial nonpolyposis colon cancer Lynch syndrome |
| Number of Symptoms | 25 |
| OrphanetNr: | 144 |
| OMIM Id: |
120435
609310 613244 614331 614337 614350 614385 |
| ICD-10: |
C18 |
| UMLs: |
C1333990 |
| MeSH: |
D003123 |
| MedDRA: |
10051981 |
| Snomed: |
315058005 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic digestive tract tumor
-Rare genetic disease Inherited cancer-predisposing syndrome -Rare genetic disease -Rare oncologic disease Intestinal tumor -Rare gastroenterologic disease -Rare oncologic disease |
Symptom Information:
|
|
(HPO:0010786) | Urinary tract neoplasm | Frequent [Orphanet] | 7 / 7739 | |||
|
|
(HPO:0100615) | Ovarian neoplasm | Frequent [Orphanet] | 25 / 7739 | |||
|
|
(HPO:0000010) | Recurrent urinary tract infections | Occasional [Orphanet] | 56 / 7739 | |||
|
|
(HPO:0009726) | Renal neoplasm | Frequent [Orphanet] | 20 / 7739 | |||
|
|
(HPO:0010784) | Uterine neoplasm | Frequent [Orphanet] | 13 / 7739 | |||
|
|
(HPO:0100006) | Neoplasm of the central nervous system | Frequent [Orphanet] | 34 / 7739 | |||
|
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(HPO:0003003) | Colon cancer | 20 / 7739 | ||||
|
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(HPO:0002240) | Hepatomegaly | Occasional [Orphanet] | 467 / 7739 | |||
|
|
(HPO:0100575) | Neoplasm of the gallbladder | Frequent [Orphanet] | 6 / 7739 | |||
|
|
(HPO:0006753) | Neoplasm of the stomach | Frequent [Orphanet] | 13 / 7739 | |||
|
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(HPO:0100273) | Neoplasm of the colon | Very frequent [Orphanet] | 18 / 7739 | |||
|
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(HPO:0002239) | Gastrointestinal hemorrhage | Very frequent [Orphanet] | 97 / 7739 | |||
|
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(HPO:0005214) | Intestinal obstruction | Very frequent [Orphanet] | 35 / 7739 | |||
|
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(HPO:0002019) | Constipation | Very frequent [Orphanet] | 194 / 7739 | |||
|
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(HPO:0001541) | Ascites | Occasional [Orphanet] | 94 / 7739 | |||
|
|
(HPO:0002017) | Nausea and vomiting | Occasional [Orphanet] | 134 / 7739 | |||
|
|
(HPO:0100833) | Neoplasm of the small intestine | Frequent [Orphanet] | 5 / 7739 | |||
|
|
(HPO:0002242) | Abnormality of the intestine | Very frequent [Orphanet] | 42 / 7739 | |||
|
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(HPO:0002894) | Neoplasm of the pancreas | Frequent [Orphanet] | 17 / 7739 | |||
|
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(HPO:0100743) | Neoplasm of the rectum | Very frequent [Orphanet] | 6 / 7739 | |||
|
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(HPO:0002024) | Malabsorption | Very frequent [Orphanet] | 142 / 7739 | |||
|
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(HPO:0004325) | Decreased body weight | Very frequent [Orphanet] | 492 / 7739 | |||
|
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(HPO:0001903) | Anemia | Very frequent [Orphanet] | 289 / 7739 | |||
|
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(HPO:0001324) | Muscle weakness | Very frequent [Orphanet] | 859 / 7739 | |||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|