Table 3.

comparing Johanson–Blizzard syndrome (JBS) to other inherited syndromes with pancreatic insufficiency.

Condition	Cystic fibrosis	Schwachman‐diamond syndrome	JBS	Pearson marrow‐pancreas syndrome
Gene name (location)	CFTR (chr7q31.2)	SBSD (chr7q11)	UBR1 (chr15q15.2)	mtDNA deletion
Disease pattern	Ductular	Acinar	Acinar	Acinar
Pancreatic pathology	Lipomatosis	Lipomatosis	Lipomatosis	Fibrosis
Associated features	FTT, DM, and pulmonary manifestations	FTT, DM, short stature, neutropenia, and skeletal abnormalities	FTT, DM, facial dysmorphism, and SNHL	FTT, DM, sideroblastic anemia, and neuromuscular impairment
Exocrine PI complications	Persistent respiratory failure	Intermittent leukemia	Persistent EPI	Persistent EPI, early death
Treatment	PERT, and respiratory Support	PERT, G‐CSF, and BMT	PERT, hormone, and hearing aid	PERT

Abbreviations: BMT, bone marrow transplantation; DM, diabetes mellitus; FTT, failure to thrive; G‐CSF, granulocyte‐colony stimulating factor; mtDNA, mitochondrial DNA, PERT, pancreatic enzyme replacement therapy; SBSD, Schwachman–Bodian–diamond syndrome gene.