ORPHA:401911

AXIN2-related polyposis

Synonyms: AXIN2-related adenomatous polyposis

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Adult
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	AXIN2-related polyposis	AXIN2-related adenomatous polyposis
fr	Polypose associée à AXIN2	Polypose adénomateuse associée à AXIN2
de	AXIN2-assoziierte Polyposis	AXIN2-abhängige adenomatöse Polyposis
es	Poliposis asociada a AXIN2	Poliposis adenomatosa asociada a AXIN2
it	Poliposi adenomatosa familiare attenuata legata a AXIN2	AFAP AXIN2-correlata · FAP attenuata AXIN2-correlata · Poliposi del colon familiare attenuata AXIN2-correlata
nl	AXIN2-gerelateerde polyposis	AXIN2-gerelateerde adenomateuze polyposis
pt	Polipose AXIN2-relacionada	Polipose adenomatosa AXIN2-relacionada
pl	Atenuowana rodzinna polipowatość gruczolakowata związana z AXIN2	AFAP związana z AXIN2 · Atenuowana FAP związana z AXIN2 · Atenuowana rodzinna polipowatość jelit związana z AXIN2
cs	AXIN2-vázaná atenuovaná familiární adenomatózní polypóza	AXIN2-vázaná AFAP · AXIN2-vázaná atenuovaná FAP · AXIN2-vázaná atenuovaná familiární polypóza tlustého střeva
uk	Помірний сімейний аденоматозний поліпоз, повязаний з AXIN2	AFAP, повязаний з AXIN2 · Атенуйований сімейний кишковий поліпоз, повязаний з AXIN2 · AXIN2-залежний ослаблений FAP
zh	AXIN2相关性家族性腺瘤性息肉病	AXIN2基因相关衰减型家族性结肠息肉病
tr	AXIN2-ilişkili zayıflatılmış ailesel adenomatöz polipoz	AXIN2-ilişkili AFAP · AXIN2-ilişkili zayıflatılmış FAP · AXIN2-ilişkili zayıflatılmış ailesel polipoz koli

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	608615	E		validated
ICD-10	D12.6	NTBT	attributed	validated
ICD-11	2B90.Y	NTBT	attributed	validated
MONDO	0018426	E		validated
UMLS	C5680012	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97935Rare gastroenterologic disease

Parents in the classifications (2):

ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders
ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:300576Oligodontia-cancer predisposition syndrome moved to · inactive

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AXIN2	Disease-causing germline mutation(s) in	Assessed	HGNC:904	ENSG00000168646	604025	17q24.1	axin 2	23838596[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		4 families	Worldwide	Family(ies)	Validated	23838596[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_23838596[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.

HPO phenotypes

7 annotations · validated 2019-01-14

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0005227	Adenomatous colonic polyposis
HP:0200063	Colorectal polyposis
Occasional (29-5%)
HP:0003003	Colon cancer
HP:0100743	Neoplasm of the rectum
Excluded (0%)
HP:3000050	Abnormality of odontoid tissue
HP:0000968	Ectodermal dysplasia
HP:0008070	Sparse hair

Annotation source: 23838596[PMID]_11017067[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/401911
This record as JSON: /data/d/401911.json