PTHLH, parathyroid hormone like hormone, 5744

N. diseases: 321; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
BRACHYDACTYLY, TYPE E2 		0.700 GeneticVariation disease UNIPROT Deletion and point mutations of PTHLH cause brachydactyly type E. 20170896 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE First, a report in Nature Genetics identified the PTHrP locus as a new breast cancer susceptibility gene. 22546075 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease BEFREE We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. 23544012 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.600 GeneticVariation disease UNIPROT
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Furthermore, whereas control animals routinely developed hypercalcemia due to PTHrP production, treatment with PSP-94 led to a near normalization of plasma calcium and a marked reduction in PTHrP production as determined by radioimmunoassay and immunohistochemistry. 12727822 2003
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Twenty-one patients with EPNS were detected: 16 with ectopic Cushing's syndrome (ECS), one with hypercalcaemia due to parathyroid hormone-related protein (PTHrP) secretion, three with hypercalcitonaemia and one patient with dual secretion of calcitonin and beta-human chorionic gonadotropin (β-HCG). 30280284 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Two heterozygous PTH/PTH-related peptide (PTHrP) receptor missense mutations were previously identified in patients with Jansen's metaphyseal chondrodysplasia (JMC), a rare form of short limb dwarfism associated with hypercalcemia and normal or undetectable levels of PTH and PTHrP. 10487664 1999
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Although hypercalcemia due to PTHrP secretion has been published before, overproduction of calcitriol has not been reported yet in pediatric squamous cell skin carcinoma cases. 31782950 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE Engineered from PTHrP (1-34), abaloparatide was made stable and overcame the loss of the anabolic window and hypercalcemia associated with TPTD. 31136739 2019
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		0.400 GeneticVariation disease BEFREE These results demonstrate that certain pancreatic neuroendocrine tumors associated with hypercalcemia can synthesize and release PTHrP. 2394507 1990
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 GeneticVariation disease BEFREE First, a report in Nature Genetics identified the PTHrP locus as a new breast cancer susceptibility gene. 22546075 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 GeneticVariation disease BEFREE We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. 23544012 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.400 GeneticVariation group BEFREE In light of these previous data, we have examined whether substrates of either reconstituted basement membrane or representative collagen components of the breast tumor stroma (type I, V and OF/LB) might (i) regulate the PTHrP promoter usage and mRNA splicing patterns, (ii) modulate quantitatively the extracellular release of immunoreactive PTHrP (iPTHrP), and (iii) affect the expression of PTHrP-R. 10606734 1999
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.180 GeneticVariation disease BEFREE We studied a family with autosomal-dominant Brachydactyly Type E (BDE) and identified a t(8;12)(q13;p11.2) translocation with breakpoints (BPs) upstream of PTHLH on chromosome 12p11.2 and a disrupted KCNB2 on 8q13. 20015959 2010
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.180 GeneticVariation disease BEFREE Deletion and point mutations of PTHLH cause brachydactyly type E. 20170896 2010
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.180 GeneticVariation disease BEFREE The PTHLH gene encodes a parathyroid hormone-related protein (PTHrP) that is involved in the regulation of endochondral bone development, and mutations in this gene cause the type E form of brachydactyly. 25801215 2015
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.180 GeneticVariation disease BEFREE Isolated brachydactyly type E (BDE), characterized by shortened metacarpals and/or metatarsals, consists in a small proportion of patients with Homeobox D13 (HOXD13) or parathyroid-hormone-like hormone (PTHLH) mutations. 31283647 2019
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.180 GeneticVariation disease BEFREE Disease-causing variants and haploinsufficiency of PTHLH are known to cause brachydactyly type E and short stature. 26733284 2016
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.180 GeneticVariation disease BEFREE Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review. 26640227 2016
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.180 GeneticVariation disease BEFREE Sanger sequencing of PTHLH revealed a novel heterozygous frameshift mutation c.258delC(p.N87Tfs*18) in two affected individuals and one relative manifesting mild brachydactyly. 26763883 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 GeneticVariation disease BEFREE Disease-causing variants and haploinsufficiency of PTHLH are known to cause brachydactyly type E and short stature. 26733284 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 GeneticVariation disease BEFREE In this study, we successfully identified a novel heterozygous mutation of the parathyroid hormone-like hormone (PTHLH) gene by exome sequencing in a Chinese pedigree with brachydactyly and short stature. 25801215 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.140 GeneticVariation disease BEFREE Thus, loss-of-function mutations in PTHLH cause BDE with short stature. 20170896 2010
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE Hypercalcemia is most commonly associated with primary hyperparathyroidism and malignancy due to parathyroid hormone-related protein (PTHrP). 8060769 1994