軟骨毛髪低形成症 CHH
WordNet
- filamentous hairlike growth on a plant; "peach fuzz" (同)fuzz, tomentum
- a filamentous projection or process on an organism
- any of the cylindrical filaments characteristically growing from the epidermis of a mammal; "there is a hair in my soup" (同)pilus
- a covering for the body (or parts of it) consisting of a dense growth of threadlike structures (as on the human head); helps to prevent heat loss; "he combed his hair"; "each hair consists of layers of dead keratinized cells"
- underdevelopment of an organ because of a decrease in the number of cells
- tough elastic tissue; mostly converted to bone in adults (同)gristle
PrepTutorEJDIC
- 〈C〉(人間・動物の1本の)『毛』;(植物・昆虫などの)毛 / 〈U〉《集合的に》『髪の毛』,毛,毛髪;(動物の)体毛 / 《a~》1本の毛ほどの量(距離,程度),ごくわずか
- おや,はああ,ああ(驚き・喜び・疑い・ためらいなどを表す声)
- hectare; hectares
- 軟骨[組織]
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/11/13 22:08:48」(JST)
[Wiki en表示]
| Cartilage-hair hypoplasia |
| Classification and external resources |
| OMIM |
250250 |
Cartilage–hair hypoplasia (CHH), also known as McKusick type metaphyseal chondrodysplasia,[1]:578 is a rare genetic disorder. It is a highly pleiotropic disorder that clinically manifests by form of short-limbed dwarfism due to skeletal dysplasia, variable level of immunodeficiency and predisposition to malignancies in some cases. It was first reported in 1965 by McKusick et al. Actor Verne Troyer is affected with this form of dwarfism,[2] as was actor Billy Barty, who was renowned for saying "The name of my condition is Cartilage Hair Syndrome Hypoplasia, but you can just call me Billy."[3]
Contents
- 1 Genetics
- 2 Immunodeficiency
- 3 See also
- 4 References
Genetics
CHH is an autosomal recessive[4] inherited disorder. A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent) has also been observed with the disorder.[4]
Cartilage-hair hypoplasia has an autosomal recessive pattern of inheritance.
An association between mutations near or within the ncRNA component of RNase MRP, RMRP, has been identified.[5][6][7][8] The endoribonuclease RNase MRP is a complex of RNA molecule and several proteins and it participates on cleavage of mitochondrial primers responsible for DNA replication and on pre-rRNA processing in the nucleolus.[9][10] The locus of the gene has been mapped to the short arm of chromosome 9.[11]
Immunodeficiency
Patients with CHH usually suffer from cellular immunodeficiency. In the study of 108 Finnish patients with CHH there was detected mild to moderate form of lymphopenia, decreased delayed type of hypersensitivity and impaired responses to Phytohaemagglutinin.[12] This leads to susceptibility to and, in some more severe cases, mortality from infections early in childhood. There has also been detected combined immunodeficiency in some patients [13][13] Patients with CHH often have increased predispositions to malignancies.[13]
See also
- List of cutaneous conditions
- List of radiographic findings associated with cutaneous conditions
References
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ McKusick VA, Eldridge R, Hosteler JA, Ruangwit U, Egeland JA (1965). "Dwarfism In The Amish. II. Cartilage-hair hypoplasia". Bull Johns Hopkins Hosp 116: 285–326. PMID 14284412.
- ^ Chavez, Paul (2000-12-24). "The name of my condition is Cartilage Hair Syndrome Hypoplasia, but you can just call me Billy". ABC News. Retrieved 2010-01-26.
- ^ a b Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, el Rifai W, Ruuskanen O, de la Chapelle A, Kaitila L (1997). "Uniparental disomy in cartilage-hair hypoplasia". European Journal of Human Genetics 5 (1): 35–42. PMID 9156319.
- ^ Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A (February 2002). "RMRP gene sequence analysis confirms a cartilage-hair hypoplasia variant with only skeletal manifestations and reveals a high density of single-nucleotide polymorphisms". Clin. Genet. 61 (2): 146–51. doi:10.1034/j.1399-0004.2002.610210.x. PMID 11940090.
- ^ Ridanpää M, van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, vanVenrooij W, Pruijn G, Salmela R, Rockas S, Mäkitie O, Kaitila I, de la Chapelle A (2001). "Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia.". Cell 104 (2): 195–203. doi:10.1016/S0092-8674(01)00205-7. PMID 11207361.
- ^ Martin AN, Li Y (2007). "RNase MRP RNA and human genetic diseases.". Cell Res 17 (3): 219–26. doi:10.1038/sj.cr.7310120. PMID 17189938.
- ^ Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD (2008). "Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.". The Journal of Allergy and Clinical Immunology 122 (6): 1178–84. doi:10.1016/j.jaci.2008.07.036. PMID 18804272.
- ^ C.L. Hsieh, T.A. Donlon, B.T. Darras, D.D. Chang, J.N. Topper, D.A. Clayton, U. Francke The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4 Genomics, 6 (1990), pp. 540–544
- ^ J.N. Topper, D.A. Clayton Characterization of human MRP/Th RNA and its nuclear gene: full length MRP/Th RNA is an active endoribonuclease when assembled as an RNP Nucleic Acids Res., 18 (1990), pp. 793–799
- ^ T. Sulisalo, P. Sistonen, J. Hästbacka, C. Wadelius, O. Mäkitie, A. de la Chapelle, I. Kaitila Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis Nat. Genet., 3 (1993), pp. 338–341
- ^ Makitie 0, Kaitila I. Cartilage-hair hypoplasia clinical manifestations in 108 Finnish patients. Eur3rPediatr 1993; 152:211-7
- ^ a b c Saulsbury FT, Winkelstein JA, Davis LE, et al. Combined immunodeficiency and vaccine-related poliomyelitis in a child with cartilage-hair hypoplasia. _7 Pediatr 1975;86: 868-72
UpToDate Contents
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English Journal
- Further evidence of POP1 mutations as the cause of anauxetic dysplasia.
- Elalaoui SC1,2, Laarabi FZ2, Mansouri M1,2, Mrani NA1,3, Nishimura G4, Sefiani A1,2.
- American journal of medical genetics. Part A.Am J Med Genet A.2016 Jul 6. doi: 10.1002/ajmg.a.37839. [Epub ahead of print]
- 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). CHH is a multi-system disorder with a variety of extraskeletal changes. Whereas
- PMID 27380734
- Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report.
- Yasui Y1, Kohno M1, Nishida S1, Shironomae T1, Satomi M1, Kuwahara T1, Takahashi S1, Niida Y2.
- Congenital anomalies.Congenit Anom (Kyoto).2016 Jun 8. doi: 10.1111/cga.12175. [Epub ahead of print]
- Cartilage-hair hypoplasia is a rare metaphyseal chondrodysplasia characterized by diverse clinical manifestations and a high incidence of Hirschsprung disease. We present a male patient with cartilage-hair hypoplasia associated with severe intestinal obstruction. Genetic analysis of ribonuclease mit
- PMID 27270827
- Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.
- Narayanan DL1, Shukla A1, Siddesh AR1, Stephen J1, Srivastava P1, Mandal K1, Phadke SR2.
- Indian journal of pediatrics.Indian J Pediatr.2016 Feb 1. [Epub ahead of print]
- Cartilage-hair hypoplasia is an autosomal recessive disorder, characterized by short stature, metaphyseal dysplasia, hypotrichosis and immunodeficiency. More than 90 different biallelic mutations in RMRP gene have been identified to cause this condition. Three cases previously reported from India sh
- PMID 26830278
Japanese Journal
- Non-alcoholic steatohepatitis in a child with cartilage-hair hypoplasia syndrome
- RANDHAWA Inderpal,JANNER Donald,ZUPPAN Craig,YANNI George
- Hepatology research : the official journal of the Japan Society of Hepatology 37(11), 984-987, 2007-11-01
- NAID 10019774017
- Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
- Hirose Yuichiro,Nakashima Eiji,Ohashi Hirofumi [他],MOCHIZUKI Hiroshi,BANDO Yuki,OGATA Tsutomu,ADACHI Masanori,TOBA Emi,NISHIMURA Gen,IKEGAWA Shiro
- Journal of human genetics 51(8), 706-710, 2006-08-01
- NAID 10019286019
- Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia
Related Links
- Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune ...
- INTRODUCTION Cartilage-hair hypoplasia (CHH; MIM #250250) is a skeletal dysplasia inherited as an autosomal recessive trait. CHH is sometimes also referred to as immunodeficiency with short-limbed dwarfism. It is caused by ...
★リンクテーブル★
[★]
- 英
- metaphyseal chondrodysplasia McKusick type
- 同
- 軟骨毛髪低形成症 cartilage-hair hypoplasia, CHH
[★]
- 英
- cartilage-hair hypoplasia, CHH
- 関
- 骨幹端軟骨異形成症マクージック型
[★]
軟骨毛髪低形成症 cartilage-hair hypoplasia
[★]
- 関
- abortion、abortive、agenesis、、dysgenesis、hypotrophy
- 無形成、aplasia、aplastic