ORPHA:293144

Familial clubfoot due to 5q31 microdeletion

Synonyms: Hereditary clubfoot due to 5q31 microdeletion

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 5q31 microdeletion	Hereditary clubfoot due to 5q31 microdeletion
fr	Pied bot familial dû à une microdélétion 5q31	Pied bot héréditaire dû à une microdélétion 5q31
de	Klumpfuß, familiärer, durch Mikrodeletion 5q31	Klumpfuß, hereditärer, durch Mikrodeletion 5q31
es	Pie zambo familiar por una microdeleción 5q31	Pie zambo hereditario por una microdeleción 5q31
it	Piede torto familiare da microdelezione 5q31	Piede torto ereditario da microdelezione 5q31
nl	Familiale klompvoet door 5q31-microdeletie	Erfelijke klompvoet door 5q31-microdeletie
pt	Pé boto familiar por microdeleção 5q31	Pé boto hereditário por microdeleção 5q31
pl	Rodzinna stopa końsko-szpotawa z powodu mikrodelecji 5q31	Dziedziczna stopa końsko-szpotawa z powodu mikrodelecji 5q31
cs	Familiární pes equinovarus způsobený mikrodelecí 5q31	Dědičný pes equinovarus congenitus způsobený mikrodelecí 5q31
uk	Сімейна клишоногість внаслідок мікроделеції 5q31	Спадкова клишоногість внаслідок мікроделеції 5q31
zh	5q31微缺失所致家族性马蹄内翻足	5q31微缺失所致家族性马蹄内翻足
tr	5q31 mikrodelesyonu kaynaklı ailesel çarpık ayak	5q31 mikrodelesyonuna 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	0017382	E		validated
UMLS	C5679944	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 (1):

ORPHA:199315Familial clubfoot with or without associated lower limb anomalies
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	Role in the phenotype of	Assessed	HGNC:9004	ENSG00000069011	602149	5q31.1	paired like homeodomain 1	21775501[PMID]

0 records

No prevalence record in this release.

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