PROP1, PROP paired-like homeobox 1, 5626

N. diseases: 117; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N). 31028847 2019
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE We report a novel mutation in the PROP1 gene in an infant with CPHD and an enlarged pituitary gland. 30988269 2019
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Early diagnosis of panhypopituitarism due to PROP1 mutation is essential for successful treatment; however, our case report shows that carefully titrated GH treatment and sex hormone substitution, although initiated in adulthood, enable restoration of physiological growth and sexual development in a hormonally infantile adult woman with a PROP1 mutation. 29180983 2017
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. 28356564 2017
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 Biomarker disease BEFREE PROP1 mutations are a prevalent cause of congenital CPHD with OPP, and therefore, PROP1 sequencing must be the first step of molecular investigation in patients with CPHD and OPP, especially in populations with a high frequency of PROP1 mutations. 28734020 2017
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE IGHD may result from mutations in GH1 and GHRHR while CPHD is associated with defects in transcription factor genes PROP1, POU1F1 and HESX1. 27114065 2016
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. 26608600 2016
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. 26059845 2016
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 Biomarker disease BEFREE Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. 27756091 2016
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 Biomarker disease BEFREE 80 index cases [54 with isolated growth hormone deficiency (IGHD), 26 with combined pituitary hormone deficiency (CPHD)] were screened for molecular defects in GH1 (including LCR-GH1), GHRHR, GHSR, GHRH, PROP1, POU1F1, HESX1, LHX3, LHX4 and SOX3. 25557026 2015
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Complete deletion in PROP1 gene was the most common mutation encountered in patients with CPHD. 25500790 2015
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE A small previously reported deletion in PROP1 c.301_302delAG was detected in a separate patient with CPHD, in heterozygous state. 26111865 2015
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 Biomarker disease BEFREE The various levels of specific miRNAs, particularly miR-593 and miR-511 whose direct target is the PROP1 gene, may serve as a non-invasive diagnostic biomarkers for children with CPHD. 25434367 2015
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Mutations in PROP1 are the most frequent defect detected in patients with combined pituitary hormone deficiency (MIM #262600), characterized by a clinical phenotype of proportionate growth deficit due to impaired production of growth hormone in combination with deficiency of one or more of the additional anterior pituitary hormones. 23831233 2013
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Several mutations are located in a transactivation domain (TAD) of Prop1, and the loss of TAD binding to cofactors is likely the cause of CPHD. 23732115 2013
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE PROP-1 gene mutations have been reported as a cause of combined pituitary hormone deficiency. 23624138 2013
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE In familial cases of combined pituitary hormone deficiency the most common mutations are that of Prophet of Pit 1 (PROP1) gene. 21863341 2011
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Defects of the PROP1 gene are the most prevalent genetic cause of combined pituitary hormone deficiency. 22024773 2011
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE We report the largest genomic deletion including PROP1 gene associated with CPHD. 20395664 2010
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 Biomarker disease BEFREE For this type of pathology we propose the term 'cystic hyperplasia of the intermediate pituitary lobe' and suggest PROP1 gene assessment in patients with CPHD in order to avoid unnecessary neurosurgical interventions. 19774847 2009
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Mutations in PROP1 are a frequent cause of familial CPHD. 19128366 2009
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Direct DNA sequencing of all coding exons of the pituitary transcription factor 1 (PIT1) and prophet of PIT1 (PROP1) genes failed to detect disease-causing mutations, suggesting that these genes were not involved in the development of CPHD in our patient. 18296909 2008
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Combined pituitary hormone deficiency and PROP-1 mutation in two siblings: a distinct MR imaging pattern of pituitary enlargement. 17698542 2007
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE PROP1 and POU1F: Recessive mutations within the pituitary-specific transcription factor Prophet of Pit1, or PROP1, are associated with CPHD (GH, prolactin [PRL] and TSH deficiency with additional LH and FSH deficiency). 18174732 2007
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism
0.500 GeneticVariation disease BEFREE Patients with idiopathic CPHD and NPPP, born from consanguineous parents, are the strong candidates for PROP1 mutations. 18157385 2007