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:C0027497 (
nausea
)
23,468
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with the loss of appetite and
nausea
lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any paroxysmal attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. A novel harmful sequence change in the
NLRP12
gene was detected, and a diagnosis of
NLRP12
associated autoinflammatory syndrome was made. This sequence change within the
NLRP12
gene causing disease has not yet been reported in the literature and is the first such a case reported from India.
...
PMID:Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India. 3085 56
