PMID: 23622139

Whitcomb DC
Genetic risk factors for pancreatic disorders.
Gastroenterology. 2013 Jun;144(6):1292-302. doi: 10.1053/j.gastro.2013.01.069., [PubMed]
Sentences
No. Mutations Sentence Comment
149 ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 23622139:149:837
status: NEW
view ABCC7 p.Arg75Gln details
 Genotype-Phenotype Correlations in Multi-Organ Syndromes Genotype (variants) Phenotype (syndrome) Comment PRSS1 HP Genetic counseling recommended PRSS1/any HP, worse clinical course Genetic counseling recommended CFTRsev/CFTRsev CF Manage with a CF center CFTRsev/CFTRm-v Atypical CF Manage with a CF center SPINK1/SPINK1 Familial pancreatitis Usually progresses to severe CP CFTRbicarb/CFTRany Pancreas/sinus/male infertility Newly defined syndrome CFTRany/SPINK1 RAP/CP Pancreas only CTRC/SPINK1 RAP/CP Pancreas only; not well studied CASRaf9;/alcohol RAP/CP Pancreas only; not well studied CASRafa;/SPINK1 RAP/CP, familial CP CP in FHH and sporadic CP CASRafa;/CFTR RAP/CP Pancreas only; not well studied Any, severe, mild-variable, or bicarbonate disrupting variants; bicarb, bicarbonate conductance disrupting variant (eg, R75Q); CASRaf9;, gain-of-function mutations; CASR-, loss-of-function mutations; CF, cystic fibrosis; FHH, familial hypocalciuric hypercalcemia; HP, hereditary pancreatitis; m-v, mild-variable mutations (typically CFTR functional class IV); sev, severe mutations (typically functional class I-III). Login to comment