ORPHA:660021

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

Synonyms: AMOTL1-related syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome	AMOTL1-related syndrome
fr	Syndrome de fente oro-faciale-anomalies cardiaques-dysmorphie faciale	Syndrome associé à AMOTL1
de	Orofaziale Spaltbildung-Herzanomalien-Hochwuchs-Gesichtsdysmorphie-Syndrom	AMOTL1-assoziiertes Syndrom
es	Síndrome de hendidura orofacial-anomalías cardíacas-dismorfia facial	Síndrome asociado al gen AMOTL1
it	Sindrome schisi orofacciale-cardiopatie-dismorfismi facciali	Sindrome correlata a AMOTL1
nl	Orofaciale schisis - hartanomalieën - faciale dysmorfie-syndroom	AMOTL1-gerelateerd syndroom
pt	Síndrome de fenda orofacial-anomalias cardíacas-dismorfia facial	Síndrome AMOTL1-relacionada
pl	Zespół z rozszczepem jamy ustnej i twarzy, wadami serca i dysmorfią twarzy	= en
cs	Syndrom zahrnující orofaciální rozštěpy, srdeční anomálie a faciální dysmorfii	= en
uk	Синдром розщеплення лицьової кістки-серцевих аномалій-лицьового дизморфізму	Синдром, повязаний з AMOTL1

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	621192	E		validated
ICD-10	Q87.0	NTBT	attributed	validated
MONDO	0971064	E		validated
MONDO	971064	E		validated
UMLS	C5925125	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 (3):

ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
AMOTL1	Disease-causing germline mutation(s) in	Assessed	HGNC:17811	ENSG00000166025	614657	11q21	angiomotin like 1	36751037[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		13 cases	Worldwide	Case(s)	Validated	36751037[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	36751037[PMID]_ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

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