Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0038002 (
splenomegaly
)
9,873
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Williams or Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, vascular stenoses, growth retardation, and occasional infantile hypercalcemia, caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. However, with the exception of arterial stenoses caused by haploinsufficiency for the
elastin gene
(
ELN
), no specific implication of any other gene in the phenotype has been established. We present two patients with portal hypertension leading to
splenomegaly
and pancytopenia carrying the common 1.5 Mb WBS deletion. We propose this is an additional severe vascular complication of
ELN
deficiency and discuss the specific characteristics of the portal venous tract that could explain the impact of
ELN
deficiency in that venous territory. This complication is potentially lethal and should thus be considered in any patient with WBS and
splenomegaly
.
...
PMID:Portal hypertension in Williams syndrome: report of two patients. 1268 71
