Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth...
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Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund–Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP)...
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Xeroderma pigmentosum (redirect from Cockayne syndrome complex)
of syndromes; XP, trichothiodystrophy (TTD), or a combination of XP and Cockayne syndrome (XPCS). Both trichothiodystrophy and Cockayne syndrome display...
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Progeria (redirect from Hutchinson Gilford Progeria Syndrome)
cells. Unlike other "accelerated aging diseases", such as Werner syndrome, Cockayne syndrome, or xeroderma pigmentosum, progeria may not be directly caused...
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exhibit signs similar to Usher syndrome, including Alport syndrome, Alström syndrome, Bardet–Biedl syndrome, Cockayne syndrome, spondyloepiphyseal dysplasia...
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Liberty.[citation needed] Accelerated aging disease Biogerontology Cockayne syndrome DNA repair Degenerative disease Genetic disorder Life extension Progeria...
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ERCC6 (section Cockayne syndrome)
position 11.23. Having 1 or more copies of a mutated ERCC6 causes Cockayne syndrome, type II. DNA can be damaged by ultraviolet radiation, toxins, radioactive...
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Epidermolysis bullosa simplex (redirect from Weber-Cockayne syndrome)
Localized epidermolysis bullosa simplex Also known as "Weber–Cockayne syndrome": 460 and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex"...
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хeroderma pigmentosum and CSA and CSB represent proteins linked to Cockayne syndrome. Additionally, the proteins ERCC1, RPA, RAD23A, RAD23B, and others...
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isolated syndrome CLOVES syndrome COACH syndrome Cobb syndrome Cockayne syndrome Coffin–Lowry syndrome Coffin–Siris syndrome Cogan syndrome Cohen syndrome Compartment...
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ERCC8 (redirect from Cockayne syndrome A)
This gene encodes a WD repeat protein, which interacts with the Cockayne syndrome type B (CSB) and p44 proteins, the latter being a subunit of the RNA...
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Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare...
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These syndromes include Aicardi-Goutieres syndrome, amyotrophic lateral sclerosis, ataxia-telangiectasia, Cockayne syndrome, fragile X syndrome, Friedrich's...
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with accelerated aging disorders such as Cockayne syndrome (CS) and trichothiodystrophy (TTD). Cockayne syndrome and trichothiodystrophy are both developmental...
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Trichothiodystrophy (redirect from Tay syndrome)
rare autosomal recessive diseases like xeroderma pigmentosum and Cockayne syndrome. Currently, mutations in four genes are recognized as causing the...
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Wiedemann–Rautenstrauch (WR) syndrome (German pronunciation: [ˈviːdəman ˈʁaʊtn̩ʃtʁaʊx]), also known as neonatal progeroid syndrome, is a rare autosomal recessive...
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Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to...
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Microcephaly (redirect from Merlob syndrome)
breakage syndrome X-linked lissencephaly with abnormal genitalia Aicardi–Goutières syndrome Ataxia telangiectasia Cohen syndrome Cockayne syndrome Acquired...
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sinus, a dilated area at the base of the internal carotid artery. Cockayne syndrome, a rare autosomal recessive, congenital disorder Conditioned stimulus...
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List of genetic disorders (redirect from List of genetic syndromes)
RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
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Ataxia-telangiectasia Bloom syndrome Cockayne syndrome Fanconi anemia Progeria (Hutchinson–Gilford progeria syndrome) Rothmund–Thomson syndrome Trichothiodystrophy...
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the NBS1 gene lead to higher levels of cancer (see Fanconi anemia, Cockayne syndrome.) The name derives from the Dutch city Nijmegen, where the condition...
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Jewish Disorder Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome CODAS syndrome Codesette syndrome Coeliac disease...
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questionnaire Clinical Skills Assessment exam Cockayne syndrome A or ERCC8, a gene whose mutation causes Cockayne syndrome Cognitive styles analysis, a computerized...
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ERCC1 (section Cockayne syndrome)
normal genes are absent, these mutations can lead to human syndromes, including Cockayne syndrome (CS) and COFS. ERCC1 and ERCC4 are the gene names assigned...
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disease has since been divided into three subtypes: Cockayne syndrome I, or Classic Cockayne Syndrome: in which facial and somatic abnormalities develop...
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ERCC4 (section Cockayne syndrome (CS))
are absent, these mutations can lead to human syndromes, including xeroderma pigmentosum, Cockayne syndrome and Fanconi anemia. ERCC1 and ERCC4 are the...
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conditions are Werner syndrome (mean lifespan 47 years), Huchinson–Gilford progeria (mean lifespan 13 years), and Cockayne syndrome (mean lifespan 13 years)...
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Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary...
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peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome. The name "CAMFAK" comes from the first letters of the characteristic...
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