ORPHA:293150

Familial clubfoot due to PITX1 point mutation

Synonyms: Hereditary clubfoot due to PITX1 point mutation

This disease is described under Familial clubfoot with or without associated lower limb anomalies

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Familial clubfoot due to PITX1 point mutation	Hereditary clubfoot due to PITX1 point mutation
fr	Pied bot familial dû à une mutation ponctuelle de PITX1	Pied bot héréditaire dû à une mutation ponctuelle PITX1
de	Klumpfuß, familiärer, durch Punktmutation im PITX1-Gen	Klumpfuß, hereditärer, durch Punktmutation im PITX1-Gen
es	Pie zambo por una mutación puntual en el gen PITX1	Pie zambo hereditario por una mutación puntual en el gen PITX1
it	Piede torto familiare da mutazione puntiforme di PITX1	Piede torto ereditario da mutazione puntiforme di PITX1
nl	Familiale klompvoet door PITX1-puntmutatie	Erfelijke horrelvoet door PITX1 puntmutatie
pt	Pé boto familiar por mutação pontual em PITX1	Pé boto hereditário por mutação pontual em PITX1
pl	Rodzinna stopa końsko-szpotawa z powodu mutacji punktowej PITX1	Dziedziczna stopa końsko-szpotawa z powodu mutacji punktowej PITX1
cs	Familiární pes equinovarus způsobený bodovými mutacemi PITX1 genu	Dědičný pes equinovarus congenitus způsobený bodovými mutacemi PITX1
uk	Сімейна клишоногість внаслідок точкової мутації PITX1	Спадкова клишоногість внаслідок мутації точки PITX1
zh	PITX1点突变所致家族性马蹄内翻足	PITX1基因点突变所致家族性马蹄内翻足
tr	PITX1 nokta mutasyonu kaynaklı ailesel çarpık ayak	PITX1 nokta mutasyonuna bağlı kalıtsal çarpık ayak

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	119800	NTBT		validated
ICD-10	Q66.8	NTBT	attributed	validated
ICD-11	LB98.Y	NTBT	attributed	validated
MONDO	0017383	E		validated
UMLS	C5679943	E		validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:199315Familial clubfoot with or without associated lower limb anomalies
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
ORPHA:93455Patellar dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PITX1	Disease-causing germline mutation(s) in	Assessed	HGNC:9004	ENSG00000069011	602149	5q31.1	paired like homeodomain 1	18950742[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.