raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:454840

NTHL1-related polyposis

Synonyms: NTHL1-related adenomatous polyposis

Type
Disease
Group
Disorder
Inheritance
Autosomal recessive
Age of onset
Adult, Elderly
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enNTHL1-related polyposisNTHL1-related adenomatous polyposis
frPolypose associée à NTHL1Polypose adénomateuse associée à NTHL1
deNTHL1-assoziierte PolyposisNTHL1-abhängige adenomatöse Polyposis
esPoliposis asociada a NTHL1Poliposis adenomatosa asociada a NTHL1
itPoliposi adenomatosa familiare attenuata NTHL1-correlata
nlNTHL1-gerelateerde polyposisNTHL1-gerelateerde adenomateuze polyposis
ptPolipose NTHL1-relacionadaPolipose adenomatosa NTHL1-relacionada
plPoronna rodzinna polipowatość gruczolakowata zależna od NTHL1= en
csNTHL1-vázaná atenuovaná familiární adenomatózní polypózaNTHL1-vázaná AFAP
ukПомірний сімейний аденоматозний поліпоз, повязаний з NTHL1AFAP, повязаний з NTHL1 · NTHL1-асоційований ослаблений ФАП
zhNTHL1相关性减毒家族性腺瘤性息肉病NTHL1相关减毒性 FAP
trNTHL1-ilişkili zayıflatılmış ailesel adenomatöz polipozNTHL1-ilişkili AFAP · NTHL1-ilişkili zayıflatılmış FAP
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM616415Evalidated
ICD-10D12.6NTBTattributedvalidated
MONDO0014630Evalidated
UMLSC4225157Evalidated

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):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
NTHL1Disease-causing germline mutation(s) (loss of function) inAssessedHGNC:8028ENSG0000006505760265616p13.3nth like DNA glycosylase 125938944[PMID]_26559593[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

15 annotations · validated 2018-12-17
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0005227Adenomatous colonic polyposis
Frequent (79-30%)
HP:0009725Bladder neoplasm
HP:0003002Breast carcinoma
HP:0003003Colon cancer
HP:0012114Endometrial carcinoma
HP:0002858Meningioma
HP:0100743Neoplasm of the rectum
HP:0008069Neoplasm of the skin
Occasional (29-5%)
HP:0002671Basal cell carcinoma
HP:0006771Duodenal adenocarcinoma
HP:0012539Non-Hodgkin lymphoma
HP:0000138Ovarian cyst
HP:0006725Pancreatic adenocarcinoma
HP:0031287Seborrheic keratosis
HP:0002860Squamous cell carcinoma

Run the differential on the 1 obligate / very frequent terms

Annotation source: 25938944[PMID]_26559593[PMID]

7

Sources for this card