同: RCDP

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/02/07 02:17:10」(JST)

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Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts.^[1] The affected individuals have low levels of plasmalogens.^[2]

Types

Type 1 (RCDP1) is associated with PEX7 mutations^{[citation needed]}. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.
Type 2 (RCDP2) is associated with DHAPAT mutations^{[citation needed]}
Type 3 (RCDP3) is associated with AGPS mutations^{[citation needed]}

External links

GeneReviews/NCBI/NIH/UW entry on Rhizomelic Chondrodysplasia Punctata Type 1

References

^ Braverman, N.E., Moser AB, Steinberg, S.J. 2010. Rhizomelic Chondrodysplasia Punctata Type 1. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2001 Nov 16 [updated 2010 Mar 02].
^ Abby Goodnough (September 6, 2015). "Flicker of Hope for Children With Rare and Devastating Disease". New York Times. Retrieved 2015-09-06.

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UpToDate Contents

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1. ペルオキシソーム病 peroxisomal disorders
2. 致死的骨格形成異常の出生前診断 prenatal diagnosis of the lethal skeletal dysplasias
3. 幼児および小児における精密な神経学的評価 detailed neurologic assessment of infants and children
4. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders
5. 高カルシウム血症の原因 etiology of hypercalcemia

English Journal

The neurology of rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT.SourceDepartment of Pediatric Neurology/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. b.t.pollthe@amc.uva.nl.
Orphanet journal of rare diseases.Orphanet J Rare Dis.2013 Oct 30;8(1):174. doi: 10.1186/1750-1172-8-174.
BACKGROUND: To describe the neurologic profiles of Rhizomelic chondrodysplasia punctata (RCDP); a peroxisomal disorder clinically characterized by skeletal abnormalities, congenital cataracts, severe growth and developmental impairments and immobility of joints. Defective plasmalogen biosynthesis is
PMID 24172221

Brain peroxisomes.

Trompier D, Vejux A, Zarrouk A, Gondcaille C, Geillon F, Nury T, Savary S, Lizard G.SourceUniversité de Bourgogne, Laboratoire «Bio-PeroxIL» de Biochimie du Peroxysome, Inflammation et Métabolisme Lipidique (EA7270)/INSERM, 6 Bd Gabriel, Dijon F-21000, France.
Biochimie.Biochimie.2013 Sep 21. pii: S0300-9084(13)00323-4. doi: 10.1016/j.biochi.2013.09.009. [Epub ahead of print]
Peroxisomes are essential organelles in higher eukaryotes as they play a major role in numerous metabolic pathways and redox homeostasis. Some peroxisomal abnormalities, which are often not compatible with life or normal development, were identified in severe demyelinating and neurodegenerative brai
PMID 24060512

Rhizomelic chondrodysplasia punctata and cardiac pathology.

Huffnagel IC, Clur SA, Bams-Mengerink AM, Blom NA, Wanders RJ, Waterham HR, Poll-The BT.SourceDepartment of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, PO Box 2260, Amsterdam 1100 DD, The Netherlands.
Journal of medical genetics.J Med Genet.2013 Jul;50(7):419-24. doi: 10.1136/jmedgenet-2013-101536. Epub 2013 Apr 9.
BACKGROUND: Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterised by rhizomelia, contractures, congenital cataracts, facial dysmorphia, severe psychomotor defects and growth retardation. Biochemically, the levels of plasmalogens (major constituents
PMID 23572185

Japanese Journal

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders

TAKEMOTO Yasuhiko,SUZUKI Yasuyuki,HORIBE Ryoko,SHIMOZAWA Nobuyuki,WANDERS Ronald J. A.,KONDO Naomi
Brain & development 25(7), 481-487, 2003-10-14
NAID 10020553571

A novel nonsense mutation of the PEX7 gene in a patient with rhizomelic chondrodysplasia punctata

Shimozawa Nobuyuki,Suzuki Yasuyuki,Zhang Zhongyi [他],MIURA Kiyokuni,MATSUMOTO Akiko,NAGAYA Masahiro,CASTILLO-TAUCHER Silvia,KONDO Naomi
Journal of human genetics 44(2), 123-125, 1999-03-01
NAID 10011568238

ペルオキシソーム病RCDP患者由来線維芽細胞と同じ相補性群に属する新規CHO変異細胞の単離と解析

ガエデイカムラン,向井悟,田村茂彦,下沢伸行,藤木幸夫
日本分子生物学会年会プログラム・講演要旨集 21, 305, 1998-12-01
NAID 10002855758

Related Pictures

★リンクテーブル★

リンク元	「肢根点状軟骨異形成症」「肢根型点状軟骨異形成症」「RCDP」
関連記事	「chondrodysplasia punctata」「chondrodysplasia」

「肢根点状軟骨異形成症」

Rhizomelic chondrodysplasia punctata
Classification and external resources
Specialty	medical genetics
ICD-10	Q77.3
ICD-9-CM	277.86
OMIM	215100 222765 600121
DiseasesDB	31410
MeSH	D018902
	[edit on Wikidata]