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PBX1

PBX homeobox 1

HCNC Approved Symbol
PBX1 (HGNC:8632)
Genomic Coordinates
1:164,559,184 - 164,886,047 (1q23.3)
Synonyms
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
617641AD

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the PBX1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Abdominal distension
 1 (33.3%)
Constipation
 1 (33.3%)
Delayed milestones
 1 (33.3%)
Failure to thrive
 1 (33.3%)
Proteinuria
 1 (33.3%)