ORPHA:656130

PBX1-related congenital anomalies of kidney-urinary tract syndrome

Synonyms: PBX1-related syndromic CAKUT

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	PBX1-related congenital anomalies of kidney-urinary tract syndrome	PBX1-related syndromic CAKUT
fr	Syndrome d'anomalies congénitales du rein et des voies urinaires associé à PBX1	CAKUT syndromique associé à PBX1
de	Syndrom der PBX1-assoziierten kongenitale Anomalien der Niere und der ableitenden Harnwege	CAKUT-Syndrom, PBX1-assoziiertes · CAKUTHED-Syndrom
es	Síndrome de anomalías congénitas del riñón y del tracto urinario asociado a PBX1	Síndrome CAKUT asociado a PBX1
it	Sindrome anomalie congenite del rene e delle vie urinarie correlata a PBX1	CAKUT sindromica correlata a PBX1 · Sindrome CAKUT correlata a PBX1
nl	Syndroom van PBX1-gerelateerde congenitale anomalieën van nier en urinewegen	PBX1-gerelateerde syndromale CAKUT
pt	Síndrome de anomalias congénitas dos rins e do trato urinário PBX1-relacionada	CAKUT sindrómico PBX1-relacionada
pl	Wrodzony zespół wad nerek i dróg moczowych związany z PBX1	Zespół wrodzonych wad nerek i dróg moczowych związany z PBX1
cs	Syndrom vrozených anomálií ledvin a močových cest souvisejících s PBX1	= en
uk	Вроджені аномалії нирок та сечовивідних шляхів, повязані з PBX1	Синдром CAKUT, повязаний з PBX1

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	617641	E		validated
ICD-10	Q87.8	NTBT	attributed	validated
MONDO	0060549	E		validated
MONDO	60549	E		validated
UMLS	C5925107	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 (4):

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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PBX1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:8632	ENSG00000185630	176310	1q23.3	PBX homeobox 1	28566479[PMID]

0 records

No prevalence record in this release.

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