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:C0020505 (
hyperphagia
)
6,116
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Prolyl endopeptidase-like
(
PREPL
) deficiency (MIM# 616224) is a rare autosomal recessive inherited congenital myasthenic syndrome characterized by neonatal hypotonia, feeding problems, mild dysmorphism, and neuromuscular symptoms, followed by
hyperphagia
and obesity in later childhood. Some patients also exhibit growth deficits, sexual hormone deficiency, and cognitive impairments. This syndrome is caused by biallelic mutations in
PREPL
. To date, only one nucleotide deletion and seven small microdeletions in
PREPL
have been reported. Here we report a female patient with a novel homozygous frameshift mutation in
PREPL
(NM_006036.4, c.342delA:p.Val115Leufs*39). Her clinical features are similar to those of previously reported cases. The mutation is the first homozygous point mutation reported in humans.
...
PMID:The second point mutation in PREPL: a case report and literature review. 2948 76
