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Genes (14)
Species:
human : 14 | |
| Human | LHX4 | 89884 | LIM homeobox 4 | germline mutations; phenotype characterized by short stature and by pituitary, hindbrain, and skull abnormalities | | Human | CUL7 | 9820 | cullin 7 | A novel homozygous 4582insT mutation in CUL7 resulted in a frameshift mutation & a premature stop codon at 1553 (Q1553X)in Yakuts with short stature syndromes | | Human | KDM5C | 8242 | lysine (K)-specific demethylase 5C | male patients with mental retardation, short stature and hyperreflexia should be considered candidates for mutations in the JARID1C gene | | Human | TBX15 | 6913 | T-box 15 | TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome | | Human | SHOX | 6473 | short stature homeobox | Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients SHOX intragenic microsatellite might be a useful molecular marker to detect Turner syndrome and when skeletal disproportion is associated with short stature a significant proportion of patients is found to have a single SHOX allele Title:Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.|Association:Not Found|Conclusion:We conclude that SHOX mutations have been detected in 2.4% of children with short stature. The spectrum of SHOX mutations is biased, with the vast majority leading to complete gene deletions. The prevalence of short stature due to SHOX gene mutations among children with short stature appears to be similar to that of GH deficiency or Turner syndrome. Family studies of the children with SHOX mutations often reveal older family members with same mutation who exhibit mild skeletal features reminiscent of the Turner syndrome, such as high-arched palate, short neck, abnormal auricular development, cubitus valgus, genu valgum, short fourth metacarpals, and Madelung deformity. Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature SHOX deletion is aasociated with short stature SHOX mutations may have a role in development of short stature | | Human | PTPN11 | 5781 | protein tyrosine phosphatase, non-receptor type 11 | A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in the general population | | Human | LEP | 3952 | leptin | nocturnal leptin secretion in children with myelomeningocele was significantly different from secretion in children with growth hormone deficiency and normal variant short stature | | Human | KRAS | 3845 | Kirsten rat sarcoma viral oncogene homolog | De novo germline HRAS (G12A) and KRAS (F156L) mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features | | Human | IGFALS | 3483 | insulin-like growth factor binding protein, acid labile subunit | The clinical presentation of homozygous ALS mutations may, besides short stature, include microcephaly | | Human | IGF2 | 3481 | insulin-like growth factor 2 (somatomedin A) | A break point 184 kb upstream of the paternally derived IGF2 gene resulted in reduced expression in some mesoderm-derived adult tissues causing intrauterine growth retardation, short stature, lactation failure, and insulin resistance | | Human | IGF1 | 3479 | insulin-like growth factor 1 (somatomedin C) | Title:Analysis of coding and promoter sequences of the IGF-I gene in children with growth disorders presenting with normal level of growth hormone|Association:Not Found|Conclusion:We conclude that testing the IGF-I P1 region, using PCR/SSCP analysis, could be useful in the diagnosis of growth disorders. | | Human | GHSR | 2693 | growth hormone secretagogue receptor | A GHSR missense mutation segregates with short stature resulting in decreased cell-surface expression of the receptor and selective impairment of the constitutive activity of GHSR, while preserving its ability to respond to ghrelin Review concludes that selective lack of ghrelin receptor constitutive signaling leads to a syndrome characterized not only by short stature, but also by obesity that apparently develops during puberty no conclusive evidence for an involvement of the ghrelin receptor gene in body weight regulation or short normal stature | | Human | GH1 | 2688 | growth hormone 1 | Heterozygous mutations have been identified disproportionately in individuals with short stature as compared to idiopathic growth hormone deficiency individuals and control group | | Human | CYP21A2 | 1589 | cytochrome P450, family 21, subfamily A, polypeptide 2 | Young adults with 21-hydroxylase deficiency had a short stature and broad bones with a normal bone mineral content and had an increased fat mass percentage |
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