Cartilage-hair hypoplasia

A hereditary autosomal recessive form of short-limbed DWARFISM due to osteochondrodysplasia. Affected individuals may also experience gastrointestinal abnormalities such as Hirschsprung Disease, immunologic deficiency, and increased susceptibility for LYMPHOMA and SKIN NEOPLASMS. Mutations in the RMRP gene have been identified. OMIM: 250250

Also Known As:

Networked: 78 relevant articles (2 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Inborn Genetic Diseases (Disease, Hereditary)
3.	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita)
4.	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
5.	Wiskott-Aldrich Syndrome

Experts

1.	Mäkitie, Outi: 8 articles (01/2021 - 07/2002)
2.	Zabel, Bernhard: 7 articles (12/2021 - 11/2005)
3.	Pruijn, Ger J M: 5 articles (01/2022 - 11/2007)
4.	Welting, Tim J M: 5 articles (12/2021 - 11/2007)
5.	Taskinen, Mervi: 5 articles (01/2018 - 01/2011)
6.	Notarangelo, Luigi D: 5 articles (01/2017 - 12/2008)
7.	Klemetti, Paula: 4 articles (01/2020 - 01/2017)
8.	Caron, Marjolein M J: 3 articles (12/2021 - 01/2017)
9.	Friedrich, Franziska: 3 articles (12/2021 - 01/2017)
10.	Surtel, Don A M: 3 articles (12/2021 - 01/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cartilage-hair hypoplasia:

1.	Messenger RNA (mRNA)IBA 11/01/2005 - "Whereas the cartilage hair hypoplasia founder mutation affects both pathways intermediately, anauxetic dysplasia mutations do not affect B-cyclin messenger RNA (mRNA) levels but do severely incapacitate ribosomal assembly via defective endonucleolytic cleavage. " 08/19/2010 - "For six disease-states (Hyperferritinemia Cataract Syndrome, beta-Thalassemia, Cartilage-Hair Hypoplasia, Retinoblastoma, Chronic Obstructive Pulmonary Disease (COPD), and Hypertension), we identified multiple SNPs in UTRs that alter the mRNA structural ensemble of the associated genes. " 01/01/2019 - "Viperin 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. " 02/01/2006 - "Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human cartilage-hair hypoplasia region gene responsible for cartilage-hair hypoplasia, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting tumor cell proliferation. "
2.	Complementary DNA (cDNA)IBA 02/01/2006 - "Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human cartilage-hair hypoplasia region gene responsible for cartilage-hair hypoplasia, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting tumor cell proliferation. "
3.	Viral VaccinesIBA 01/01/2020 - "The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia." 01/01/2020 - "Live viral vaccines are generally contraindicated in patients with combined immunodeficiency including cartilage-hair hypoplasia (CHH); however, they may be tolerated in milder syndromes. "
4.	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 02/01/2006 - "Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human cartilage-hair hypoplasia region gene responsible for cartilage-hair hypoplasia, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting tumor cell proliferation. "
5.	InterferonsIBA 02/01/2006 - "Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human cartilage-hair hypoplasia region gene responsible for cartilage-hair hypoplasia, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting tumor cell proliferation. "
6.	Immunoglobulin Fab FragmentsIBA 02/01/2006 - "Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human cartilage-hair hypoplasia region gene responsible for cartilage-hair hypoplasia, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting tumor cell proliferation. "
7.	Fructose-Bisphosphate Aldolase (Aldolase)IBA 02/01/2006 - "Among the 11 obtained positive clones, 3 were the same cDNA having homology with interferon-induced transmembrance protein-1 and possessing anti-proliferation effect; another 6 represented different genes, namely human BAC clone RP11-453E17 whose function have not been cleared, human cartilage-hair hypoplasia region gene responsible for cartilage-hair hypoplasia, human chromosome 5 clone CTD-2030B15 with insertion mutation, human gene similar to anti tumor necrosis factor-alpha antibody light-chain Fab fragment associated with tumor growth, mRNA of human beta-2-microglobulin in relation to tumor cell proliferation, and human aldolase A gene promoting tumor cell proliferation. "
8.	RNA (Ribonucleic Acid)IBA 01/01/2022 - "Mutations in the RNA component of the RNP are the cause of cartilage hair hypoplasia. " 01/01/2017 - "Mutations in the genomic locus for MRP RNA cause pleiotropic human diseases, including cartilage hair hypoplasia (CHH). " 07/01/2011 - "Mutations in its RNA component lead to several autosomal recessive skeletal dysplasias, including cartilage-hair hypoplasia (CHH). " 11/15/2007 - "Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability." 12/01/2005 - "Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia."
9.	mitochondrial RNA-processing endoribonuclease (RNAse MRP)IBA 02/01/2021 - "To add further details to the knowledge of the phenotypic spectrum of the disease, we report on two siblings with cartilage hair hypoplasia syndrome, presenting n.64C > T homozygous mutation in the mitochondrial RNA-processing endoribonuclease gene. " 02/01/2021 - "Cartilage hair hypoplasia syndrome has a broad phenotype and it is caused by homozygous or compound heterozygous mutation in the mitochondrial RNA-processing endoribonuclease on chromosome 9p13. " 02/01/2021 - "Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings." 01/15/2014 - "Point mutations in RNase MRP cause human cartilage-hair hypoplasia (CHH), and several disease-causing mutations map to RMRP-S1 and -S2. " 12/01/2021 - "Mutations in the non-coding snoRNA component of mitochondrial RNA processing endoribonuclease (RMRP) are the cause of cartilage-hair hypoplasia (CHH). "
10.	Ribonucleases (Ribonuclease)IBA 01/01/2014 - "When previously investigated for short stature, and at the time of current investigations, she had no radiological skeletal features characteristics for cartilage hair hypoplasia, but we found a disease causing RMRP (RNase mitochondrial RNA processing endoribonuclease) gene mutation. " 01/01/2011 - "Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia caused by mutations in the RMRP gene encoding the RNA component of a mitochondrial ribonuclease complex. " 09/01/2010 - "Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. " 12/01/2008 - "To report on the expanding clinical and immunological spectrum associated with ribonuclease mitochondrial RNA-processing mutations and to review the cellular and molecular mechanisms involved in the pathophysiology of cartilage-hair hypoplasia (CHH) and related disorders in humans. " 12/01/2008 - "Cartilage hair hypoplasia is an autosomal recessive type of metaphyseal chondrodysplasia, caused by mutations in the ribonuclease mitochondrial RNA processing (RMRP) gene. "

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 12/01/2006 - "Bone marrow transplantation for cartilage-hair-hypoplasia." 06/01/2004 - "We have demonstrated the long-term excretion of a stable recombinant norovirus in a patient with cartilage hair hypoplasia (CHH), with a T cell immunodeficiency, following bone marrow transplantation (BMT). " 04/01/1996 - "Bone marrow transplantation in cartilage-hair hypoplasia: correction of the immunodeficiency but not of the chondrodysplasia."
2.	Drug Therapy (Chemotherapy) 01/01/2018 - "Here, we discuss the causal relationship and molecular mechanisms existing between both primary immunodeficiency and lymphoma conditions and between chemotherapy cytotoxicity and aggravation of the immune system and associated hematopoietic dysfunction, considering the role of all these components in light of the initially undiagnosed cartilage hair hypoplasia. " 01/01/2018 - "Diffuse large B-cell lymphoma chemotherapy reveals a combined immunodeficiency syndrome in cartilage hair hypoplasia." 01/01/2020 - "Rituximab and intense chemotherapy in a patient with defective cell mediated immunity due to cartilage-hair hypoplasia and Burkitt lymphoma."
3.	Orthopedic Procedures 01/01/2017 - "This case report discusses the pregnancy outcome of a patient with cartilage-hair hypoplasia, a rare form of dwarfism, and multiple previous orthopedic surgeries. "
4.	Hematopoietic Stem Cell Transplantation 07/08/2010 - "Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation."
5.	Chelation Therapy (Therapy, Chelation) 04/01/2013 - "To evaluate the severity of iron overload and the success of iron chelation therapy in patients with cartilage-hair hypoplasia (CHH) and hypoplastic anemia, with particular focus on adverse effects of iron chelators. "