Disease: Cartilage-hair hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE MDWH is caused by <i>RMRP</i> mutations, but it is differentiated from the allelic condition cartilage-hair hypoplasia (CHH), which in addition to chondrodysplasia is characterised by thin hair, immunodeficiency and increased risk of malignancy. 31413121 2020
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Cartilage hair hypoplasia (CHH), anauxetic dysplasia 1, and anauxetic dysplasia 2 are rare metaphyseal dysplasias caused by biallelic pathogenic variants in RMRP and POP1, which encode the components of RNAse-MRP endoribonuclease complex (RMRP) in ribosomal biogenesis pathway. 31250547 2019
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Cartilage-hair hypoplasia (CHH) is a skeletal dysplasia with combined immunodeficiency, variable clinical course and increased risk of malignancy. 31379817 2019
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE <i>Viperin</i> mRNA is a substrate for endoribonucleolytic cleavage by RNase mitochondrial RNA processing (MRP) and mutations in the RNase MRP small nucleolar RNA (snoRNA) subunit of the RNase MRP complex cause cartilage-hair hypoplasia (CHH), a human developmental condition characterized by metaphyseal chondrodysplasia and severe dwarfism. 30718282 2019
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation disease BEFREE Its mutations cause cartilage-hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia with growth failure, immunodeficiency, and a high risk for malignancies. 31551465 2019
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Cartilage-hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia significantly affecting adult height and quality of life. 30561899 2019
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation disease BEFREE The gene responsible for CHH is the RNA component of the mitochondrial RNA-processing endoribonuclease (RMRP) gene. 31237961 2019
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE <b>Background:</b> Mutations in <i>RMRP</i>, encoding a non-coding RNA molecule, underlie cartilage-hair hypoplasia (CHH), a syndromic immunodeficiency with multiple pathogenetic mechanisms and variable phenotype. 30410491 2018
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Patients with cartilage-hair hypoplasia (CHH), a rare metaphyseal chondrodysplasia, manifest severe growth failure, variable immunodeficiency and increased risk of malignancies. 30445974 2018
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Cartilage-hair hypoplasia (CHH) is a rare chondrodysplasia, including disproportionate short stature, hypoplastic hair, immunodeficiency, and increased risk of malignancies. 29462708 2018
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Cartilage hair hypoplasia (CHH) is a rare autosomal recessive ribosomopathy characterised by skeletal and integumentary system manifestations. 29688570 2018
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation disease BEFREE Mutations in at least one CHH gene were found in 51% of CHH probands, which is significantly higher than in CDGP (7%, <i>P</i> = 7.6 × 10<sup>-11</sup>) or controls (18%, <i>P</i> = 5.5 × 10<sup>-12</sup>). 29419413 2018
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia characterized by short-stature, sparse hair and impaired cellular immunity. 29744913 2018
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia caused by <i>RMRP</i> (RNA component of mitochondrial RNA processing endoribonuclease) gene mutations. 27986801 2017
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Mutations in the long noncoding RNA RNase component of the mitochondrial RNA processing endoribonuclease (RMRP) give rise to the autosomal recessive condition cartilage-hair hypoplasia (CHH). 28126377 2017
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. 28094436 2017
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Numerous RMRP mutations have been reported in individuals with cartilage-hair hypoplasia (CHH) but, to date, only three POP1 mutations have been described in two families with features similar to anauxetic dysplasia (AD). 28067412 2017
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation disease CLINVAR A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. 27569544 2016
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation disease BEFREE Anauxetic dysplasia (AAD, OMIM 607095) is a rare skeletal dysplasia inherited as an autosomal recessive trait, which is caused by mutations in RMRP and allelic to a more common disorder, cartilage hair hypoplasia (CHH). 27380734 2016
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation disease CLINVAR CHIPS for genetic testing to improve a regional clinical genetic service. 25046119 2015
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 Biomarker disease BEFREE Mutations in RMRP primarily give rise to Cartilage Hair Hypoplasia (CHH), a highly diverse skeletal disorder which can be associated with severe immunodeficiency. 25663137 2015
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 CausalMutation disease CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137 2015
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation disease CLINVAR Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. 25663137 2015
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation disease BEFREE Therefore, alterations RMRP-S1 and -S2, caused by point mutations in RMRP, are strongly implicated in the molecular mechanism of CHH. 24009312 2014
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		0.700 GeneticVariation disease CLINVAR RNAsnp: efficient detection of local RNA secondary structure changes induced by SNPs. 23315997 2013