• Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth...
    30 KB (3,089 words) - 08:42, 2 November 2024
  • Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund–Thomson syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP)...
    74 KB (8,748 words) - 15:14, 24 November 2024
  • Thumbnail for Xeroderma pigmentosum
    of syndromes; XP, trichothiodystrophy (TTD), or a combination of XP and Cockayne syndrome (XPCS). Both trichothiodystrophy and Cockayne syndrome display...
    30 KB (3,013 words) - 19:58, 29 October 2024
  • Thumbnail for Progeria
    cells. Unlike other "accelerated aging diseases", such as Werner syndrome, Cockayne syndrome, or xeroderma pigmentosum, progeria may not be directly caused...
    60 KB (6,225 words) - 14:54, 24 November 2024
  • Thumbnail for Usher syndrome
    exhibit signs similar to Usher syndrome, including Alport syndrome, Alström syndrome, Bardet–Biedl syndrome, Cockayne syndrome, spondyloepiphyseal dysplasia...
    34 KB (3,528 words) - 20:30, 29 October 2024
  • Thumbnail for Werner syndrome
    Liberty.[citation needed] Accelerated aging disease Biogerontology Cockayne syndrome DNA repair Degenerative disease Genetic disorder Life extension Progeria...
    35 KB (4,518 words) - 16:31, 2 November 2024
  • Thumbnail for ERCC6
    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...
    25 KB (3,274 words) - 22:19, 28 January 2023
  • Thumbnail for Epidermolysis bullosa simplex
    Localized epidermolysis bullosa simplex Also known as "Weber–Cockayne syndrome": 460  and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex"...
    8 KB (498 words) - 11:48, 19 November 2024
  • Thumbnail for Nucleotide excision repair
    хeroderma pigmentosum and CSA and CSB represent proteins linked to Cockayne syndrome. Additionally, the proteins ERCC1, RPA, RAD23A, RAD23B, and others...
    33 KB (3,623 words) - 18:02, 20 August 2024
  • isolated syndrome CLOVES syndrome COACH syndrome Cobb syndrome Cockayne syndrome Coffin–Lowry syndrome Coffin–Siris syndrome Cogan syndrome Cohen syndrome Compartment...
    42 KB (4,068 words) - 16:56, 1 November 2024
  • Thumbnail for ERCC8
    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...
    10 KB (1,235 words) - 14:26, 25 October 2024
  • Thumbnail for Marfanoid–progeroid–lipodystrophy syndrome
    Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare...
    8 KB (849 words) - 20:35, 22 July 2023
  • These syndromes include Aicardi-Goutieres syndrome, amyotrophic lateral sclerosis, ataxia-telangiectasia, Cockayne syndrome, fragile X syndrome, Friedrich's...
    3 KB (358 words) - 03:31, 14 December 2020
  • Thumbnail for Helicase
    with accelerated aging disorders such as Cockayne syndrome (CS) and trichothiodystrophy (TTD). Cockayne syndrome and trichothiodystrophy are both developmental...
    56 KB (6,916 words) - 17:01, 27 August 2024
  • Thumbnail for Trichothiodystrophy
    rare autosomal recessive diseases like xeroderma pigmentosum and Cockayne syndrome. Currently, mutations in four genes are recognized as causing the...
    10 KB (1,041 words) - 20:27, 29 October 2024
  • Thumbnail for Wiedemann–Rautenstrauch syndrome
    Wiedemann–Rautenstrauch (WR) syndrome (German pronunciation: [ˈviːdəman ˈʁaʊtn̩ʃtʁaʊx]), also known as neonatal progeroid syndrome, is a rare autosomal recessive...
    8 KB (761 words) - 20:09, 25 November 2024
  • Thumbnail for Bloom syndrome
    Bloom syndrome (often abbreviated as BS in literature) is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to...
    25 KB (2,759 words) - 19:52, 23 August 2024
  • Thumbnail for Microcephaly
    Microcephaly (redirect from Merlob syndrome)
    breakage syndrome X-linked lissencephaly with abnormal genitalia Aicardi–Goutières syndrome Ataxia telangiectasia Cohen syndrome Cockayne syndrome Acquired...
    46 KB (4,286 words) - 23:45, 14 November 2024
  • sinus, a dilated area at the base of the internal carotid artery. Cockayne syndrome, a rare autosomal recessive, congenital disorder Conditioned stimulus...
    6 KB (688 words) - 04:04, 15 September 2024
  • 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...
    43 KB (995 words) - 08:29, 11 November 2024
  • Ataxia-telangiectasia Bloom syndrome Cockayne syndrome Fanconi anemia Progeria (Hutchinson–Gilford progeria syndrome) Rothmund–Thomson syndrome Trichothiodystrophy...
    43 KB (3,768 words) - 09:59, 20 November 2024
  • Thumbnail for Nijmegen breakage syndrome
    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...
    9 KB (1,011 words) - 16:38, 26 October 2024
  • Jewish Disorder Cockayne syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome CODAS syndrome Codesette syndrome Coeliac disease...
    40 KB (3,657 words) - 03:02, 17 August 2024
  • questionnaire Clinical Skills Assessment exam Cockayne syndrome A or ERCC8, a gene whose mutation causes Cockayne syndrome Cognitive styles analysis, a computerized...
    6 KB (702 words) - 18:44, 7 November 2024
  • Thumbnail for ERCC1
    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...
    45 KB (5,372 words) - 16:42, 17 July 2024
  • disease has since been divided into three subtypes: Cockayne syndrome I, or Classic Cockayne Syndrome: in which facial and somatic abnormalities develop...
    4 KB (426 words) - 22:35, 26 August 2024
  • Thumbnail for ERCC4
    are absent, these mutations can lead to human syndromes, including xeroderma pigmentosum, Cockayne syndrome and Fanconi anemia. ERCC1 and ERCC4 are the...
    27 KB (3,315 words) - 00:33, 27 January 2024
  • conditions are Werner syndrome (mean lifespan 47 years), Huchinson–Gilford progeria (mean lifespan 13 years), and Cockayne syndrome (mean lifespan 13 years)...
    97 KB (11,101 words) - 11:45, 3 September 2024
  • Thumbnail for Rothmund–Thomson syndrome
    Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary...
    10 KB (914 words) - 15:27, 23 October 2024
  • Thumbnail for CAMFAK syndrome
    peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome. The name "CAMFAK" comes from the first letters of the characteristic...
    3 KB (247 words) - 12:20, 17 October 2024