ORPHA:664401

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
fr	Syndrome d'anomalies cardiaques-petite taille-hypermobilité articulaire-dysmorphie faciale dû à une mutation de TAB2
de	Herzanomalien-Kleinwuchs-Gelenkhypermobilität-Gesichtsdysmorphie-Syndrom durch TAB2-Genmutation
es	Síndrome de anomalías cardíacas-talla baja-hipermovilidad articular-dismorfia facial por mutación en el gen TAB2
it	Sindrome cardiopatie-bassa statura-ipermobilità articolare-dismorfismi facciali da mutazione di TAB2
nl	Hartanomalieën - kleine gestalte - gewrichtshypermobiliteit - faciale dysmorfie-syndroom door TAB2-mutatie
pt	Síndrome de anomalias cardíacas-baixa estatura-hipermobilidade articular-dismorfia facial por a mutação em TAB2
pl	Zespół z wadami serca, niskim wzrostem, nadmierną ruchomością stawów i dysmorfią twarzy spowodowany mutacją TAB2
cs	Syndrom způsobený mutací TAB2 zahrnující srdeční anomálie, malý vzrůst, hypermobilitu kloubů a faciální dysmorfii
uk	Синдром серцевих аномалій- низькорослості-гіпермобільності суглобів-дисморфізму обличчя, зумовлений мутацією TAB2

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	614980	NTBT	validated
MONDO	0971094	E	validated
UMLS	C5925073	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:228410Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases; rare neurological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TAB2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:17075	ENSG00000055208	605101	6q25.1	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	31959127[PMID]

0 records

No prevalence record in this release.

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