ORPHA:440437
Familial colorectal cancer Type X
Synonyms: FCCTX
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
A rare inherited cancer-predisposing syndrome characterized by the fulfilment of the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) but without alterations, either somatic or germline, in the DNA mismatch repair (MMR) genes.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial colorectal cancer Type X | FCCTX |
| fr | Cancer colorectal familial type X | = en |
| de | Familiäres kolorektales Karzinom Typ X | FCCTX · Familiäres Kolonkarzinom Typ X |
| es | Cáncer colorrectal familiar tipo X | CCRFX · FCCTX |
| it | Tumore colorettale familiare tipo X | = en |
| nl | Familiale colorectale kanker type X | = en |
| pt | Cancro colorectal familiar, tipo X | |
| pl | Rodzinny rak jelita grubego typu X | = en |
| cs | Familiární kolorektální karcinom, typ X | = en |
| uk | Сімейний колоректальний рак, тип X | = en |
| zh | X型家族性大肠癌 | = en |
| tr | ailesel kolorektal kanser Tip X | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C18.0 | BTNT | attributed | validated |
| ICD-10 | C18.1 | BTNT | attributed | validated |
| ICD-10 | C18.2 | BTNT | attributed | validated |
| ICD-10 | C18.3 | BTNT | attributed | validated |
| ICD-10 | C18.4 | BTNT | attributed | validated |
| ICD-10 | C18.5 | BTNT | attributed | validated |
| ICD-10 | C18.6 | BTNT | attributed | validated |
| ICD-10 | C18.7 | BTNT | attributed | validated |
| ICD-11 | 2B90.Y | NTBT | attributed | validated |
| MONDO | 0018604 | E | validated | |
| UMLS | C3896578 | 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.
4
Genes
10 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATM | Disease-causing germline mutation(s) in | Assessed | HGNC:795 | ENSG00000149311 | 607585 | 11q22.3 | ATM serine/threonine kinase | 36370464[PMID] |
| BMPR1A | Disease-causing germline mutation(s) in | Assessed | HGNC:1076 | ENSG00000107779 | 601299 | 10q23.2 | bone morphogenetic protein receptor type 1A | 21640116[PMID] |
| BRCA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1101 | ENSG00000139618 | 600185 | 13q13.1 | BRCA2 DNA repair associated | 36370464[PMID] |
| CHEK2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16627 | ENSG00000183765 | 604373 | 22q12.1 | checkpoint kinase 2 | 17106448[PMID] |
| MUTYH | Disease-causing germline mutation(s) in | Assessed | HGNC:7527 | ENSG00000132781 | 604933 | 1p34.1 | mutY DNA glycosylase | 24691292[PMID]_23007840[PMID] |
| NPAT | Disease-causing germline mutation(s) in | Assessed | HGNC:7896 | ENSG00000149308 | 601448 | 11q22.3 | nuclear protein, coactivator of histone transcription | 38778081[PMID] |
| POLD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9175 | ENSG00000062822 | 174761 | 19q13.33 | DNA polymerase delta 1, catalytic subunit | 28306219[PMID] |
| POLE | Disease-causing germline mutation(s) in | Assessed | HGNC:9177 | ENSG00000177084 | 174762 | 12q24.33 | DNA polymerase epsilon, catalytic subunit | 23263490[PMID]_36370464[PMID] |
| RPS20 | Disease-causing germline mutation(s) in | Assessed | HGNC:10405 | ENSG00000008988 | 603682 | 8q12.1 | ribosomal protein S20 | 24941021[PMID] |
| SEMA4A | Disease-causing germline mutation(s) in | Assessed | HGNC:10729 | ENSG00000196189 | 607292 | 1q22 | semaphorin 4A | 25307848[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
53 annotations · validated 2018-12-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0002019 | Constipation | |
| HP:0012378 | Fatigue | |
| HP:0012174 | Glioblastoma multiforme | |
| HP:0002024 | Malabsorption | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000716 | Depression | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| 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:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0012113 | Abnormality of creatine metabolism | |
| 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:0100571 | Cardiac diverticulum | |
| HP:0002376 | Developmental regression | |
| HP:0001260 | Dysarthria | |
| HP:0010526 | Dysgraphia | |
| HP:0100660 | Dyskinesia | |
| HP:0001371 | Flexion contracture | |
| HP:0001288 | Gait disturbance | |
| HP:0000738 | Hallucinations | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001402 | Hepatocellular carcinoma | |
| HP:0002354 | Memory impairment | |
| HP:0100273 | Neoplasm of the colon | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0010622 | Neoplasm of the skeletal system | |
| HP:0100031 | Neoplasm of the thyroid gland | |
| HP:0003006 | Neuroblastoma | |
| HP:0006725 | Pancreatic adenocarcinoma | |
| HP:0003401 | Paresthesia | |
| HP:0002893 | Pituitary adenoma | |
| HP:0010786 | Urinary tract neoplasm | |
| HP:0001123 | Visual field defect | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0012126 | Stomach cancer | |
| HP:0010784 | Uterine neoplasm | |
| Excluded (0%) | ||
| HP:0100013 | Neoplasm of the breast | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0009726 | Renal neoplasm | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25307848[PMID]_15855431[PMID]_22287689[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/440437
- This record as JSON: /data/d/440437.json