|
rs137853223
|
CSHL1;GH1;LOC112268204
|
Pituitary dwarfism
|
|
0.030 |
GeneticVariation |
BEFREE |
Together, the experiments seem to support the hypothesis that R183H mutant GH severely impaired the GH-regulated secretion and may, therefore, be the cause of this specific form of isolated GH deficiency type II.
|
11502836 |
2001 |
|
rs137853223
|
CSHL1;GH1;LOC112268204
|
Pituitary dwarfism
|
|
0.030 |
GeneticVariation |
BEFREE |
G to A transition at position 6664 of the growth hormone (GH-1) gene results in the substitution of Arg183 by His (R183H) in the GH protein and causes a new form of autosomal dominant isolated GH deficiency (IGHD type II).
|
11916628 |
2002 |
|
rs137853223
|
CSHL1;GH1;LOC112268204
|
Pituitary dwarfism
|
|
0.030 |
GeneticVariation |
BEFREE |
Patients with classical IGHD phenotype carried a heterozygous variant in GH1: c.626G>A (p.R209H).
|
31835104 |
2020 |
|
rs1441638629
|
CSHL1;GH1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
|
0.030 |
GeneticVariation |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) is caused by a heterozygous c.4A>G mutation in SHOC2.
|
26096762 |
2015 |
|
rs1441638629
|
CSHL1;GH1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
|
0.030 |
GeneticVariation |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome.
|
22419608 |
2012 |
|
rs1441638629
|
CSHL1;GH1
|
Noonan-Like Syndrome With Loose Anagen Hair
|
|
0.030 |
GeneticVariation |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721) due to a missense mutation c.4A>G in SHOC2 predicting p.Ser2Gly has been described recently.
|
24458596 |
2014 |
|
rs137853223
|
CSHL1;GH1;LOC112268204
|
Isolated somatotropin deficiency
|
|
0.020 |
GeneticVariation |
BEFREE |
Patients with classical IGHD phenotype carried a heterozygous variant in GH1: c.626G>A (p.R209H).
|
31835104 |
2020 |
|
rs137853223
|
CSHL1;GH1;LOC112268204
|
Isolated somatotropin deficiency
|
|
0.020 |
GeneticVariation |
BEFREE |
Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion.
|
11502836 |
2001 |
|
rs137853220
|
CSHL1;GH1;LOC112268204
|
Growth failure
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory.
|
17785701 |
2007 |
|
rs137853220
|
CSHL1;GH1;LOC112268204
|
Dwarfism
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory.
|
17785701 |
2007 |
|
rs137853220
|
CSHL1;GH1;LOC112268204
|
Failure to Thrive
|
|
0.010 |
GeneticVariation |
BEFREE |
Finally, we clearly demonstrate that GH-R77C is not invariably associated with short stature, but that great care needs to be taken in ascribing growth failure to various heterozygous mutations affecting the GH-IGF axis and that careful functional studies are mandatory.
|
17785701 |
2007 |
|
rs137853221
|
CSHL1;GH1;LOC112268204
|
Dwarfism
|
|
0.010 |
GeneticVariation |
BEFREE |
These results indicate that the D112G mutation in the GH-1 gene causes production of bioinactive GH, which prevents dimerization of GHR and is therefore responsible for the patient's short stature.
|
9276733 |
1997 |
|
rs137853222
|
CSHL1;GH1;LOC112268204
|
Dwarfism
|
|
0.010 |
GeneticVariation |
BEFREE |
Short stature caused by a biologically inactive mutant growth hormone (GH-C53S).
|
15713716 |
2005 |
|
rs137853223
|
CSHL1;GH1;LOC112268204
|
Dwarfism
|
|
0.010 |
GeneticVariation |
BEFREE |
p.R209H GH1 variant challenges short stature assessment.
|
31835104 |
2020 |
|
rs1379188099
|
CSHL1;GH1;LOC112268204
|
Isolated somatotropin deficiency
|
|
0.010 |
GeneticVariation |
BEFREE |
Since the GH deficiency was not total, additional binding and signaling studies were performed, which revealed that the GH-P59L variant displays some of the common features of bioinactive GH syndrome.
|
21546299 |
2011 |
|
rs1441638629
|
CSHL1;GH1
|
Noonan Syndrome
|
|
0.010 |
GeneticVariation |
BEFREE |
Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome.
|
22419608 |
2012 |
|
rs1487917041
|
CSHL1;GH1;LOC112268204
|
Dysmorphic features
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study expands the clinical picture of HESX1 mutations by demonstrating that patients heterozygous for Asn125Ser may have a severe endocrinologic and neuroradiologic phenotype and similar dysmorphic features appearing very early in life.
|
19844116 |
2009 |
|
rs2665802
|
CSHL1;GH1;LOC112268204
|
Primary malignant neoplasm
|
|
0.010 |
GeneticVariation |
BEFREE |
Many studies have demonstrated that the most common polymorphism (T1663A, rs2665802) in the promoter region of growth hormone 1 (GH1) gene might play an important role in cancer development and progression.
|
24464925 |
2014 |
|
rs2665802
|
CSHL1;GH1;LOC112268204
|
Polyp of large intestine
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the risk of colorectal polyps in relation to body size factors and candidate polymorphisms in selected genes of insulin-like growth factor (IGF1) (rs5742612), IGF1 receptor (IGF1R) (rs2229765), IGF binding protein 3 (IGFBP3) (rs2854746) and growth hormone (GH1) (rs2665802).
|
20580999 |
2010 |
|
rs2665802
|
CSHL1;GH1;LOC112268204
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
We found that the A allele of the rs2665802 polymorphism is associated with reduced risk of CRC only among physically inactive individuals, indicating an interaction between physical activity and the growth hormone/IGF-I system.
|
19064544 |
2008 |
|
rs2665802
|
CSHL1;GH1;LOC112268204
|
Malignant Neoplasms
|
|
0.010 |
GeneticVariation |
BEFREE |
Many studies have demonstrated that the most common polymorphism (T1663A, rs2665802) in the promoter region of growth hormone 1 (GH1) gene might play an important role in cancer development and progression.
|
24464925 |
2014 |
|
rs371953554
|
CSHL1;GH1
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense R16H (47G>A) change was identified in two CRC samples, as well as in the respective normal tissues, but was absent in 209 healthy controls.
|
17242703 |
2007 |
|
rs373184101
|
CSHL1;GH1;LOC112268204
|
Somatotropin deficiency
|
|
0.010 |
GeneticVariation |
BEFREE |
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.
|
31199775 |
2019 |
|
rs373184101
|
CSHL1;GH1;LOC112268204
|
Isolated somatotropin deficiency
|
|
0.010 |
GeneticVariation |
BEFREE |
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy.
|
31199775 |
2019 |
|
rs377600944
|
CSHL1;GH1;LOC112268204
|
Hyperargininemia
|
|
0.010 |
GeneticVariation |
BEFREE |
Ultimately, the patient was diagnosed with argininemia with homozygous mutation (c.32T>C) of the ARG1 gene at 10 years old.
|
29443755 |
2018 |