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Summary
PITUITARY HORMONE DEFICIENCY, COMBINED, 2 CPHD2
PANHYPOPITUITARISM HANHART DWARFISM
262600
OMIM = Online Medalian Inheritance of Men
95494
5q35.3
rare
autosomal recessive
mutation in the PROP1 gene
symptoms
hypoglycemia
hypogonadism
hypothyroidism
onset, childhood
onset, infancy
puberty, delayed or missing
seizures
short stature
laboratory finding
Human growth hormone (hGH) decreasedserum
Luteinizing hormone (LH) decreasedserum
Thyroid-stimulating hormone (TSH) decreasedserum
Follicle stimulating hormone (FSH) decreasedserum
Prolactin decreasedserum
Adrenocorticotropic hormone (ACTH) normal-decreasedserum
Literature
Powell CA,et al.TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesAm J Hum Genet972319-3282015
Fraidakis MJ,et al.Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH MutationJIMD Rep18085-922015
Singh-Grewal D,Durkan AMPediatric VasculitisIndian J Pediatr832156-1622016
Tsai FC,et al.Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomesJ Chin Med Assoc804253-2612017
Singh RH,et al.Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approachMol Genet Metab118272-832016
Sentner CP,et al.Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcomeJ Inherit Metab Dis395697-7042016
van Spronsen FJ,et al.Key European guidelines for the diagnosis and management of patients with phenylketonuriaLancet Diabetes Endocrinol59743-7562017
Blau NGenetics of Phenylketonuria: Then and NowHum Mutat376508-5152016
Copelovitch LUrolithiasis in children: medical approachPediatr Clin North Am594881-8962012