Disease #05595 (CS (Cockayne syndrome (CS)))

Official abbreviation CS
Name Cockayne syndrome (CS)
OMIM ID -
Inheritance -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 2 genes ERCC6, ERCC8
Associated tissues -
Disease features -
Remarks -
Date created 2019-04-20 16:48:42 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

11 entries on 1 page. Showing entries 1 - 11.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00230985 - PubMed: Laugel et al (2010) - - - - - - - - - CS - ERCC8 ERCC8 1 1 SIB - Livia Famiglietti
00230986 - PubMed: Ridley et al (2005) - - - - - - - - - CS - ERCC8 ERCC8 1 1 SIB - Livia Famiglietti
00230987 - PubMed: Laugel et al (2010) - - - - - - - - - CS - ERCC8 ERCC8 1 1 SIB - Livia Famiglietti
00230988 - PubMed: Laugel et al (2010) - - - - - - - - - CS - ERCC8 ERCC8 1 1 SIB - Livia Famiglietti
00230989 - PubMed: Cao et al (2004) - - - - - - - - - CS - ERCC8 ERCC8 1 1 SIB - Livia Famiglietti
00230990 - PubMed: Laugel et al (2010) - - - - - - - - - CS - ERCC8 ERCC8 1 1 SIB - Livia Famiglietti
00306117 PatCS20LO PubMed: Kashiyama 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - 02y06m - - - CS uneventful antenatal period;4-6m microcephaly, micrognathia, contractures knees and elbows, hypertonic, dislocated radial head, deep-set eyes, skeletal abnormalities, camptodactyly, adducted thumbs, stiff limbs, steeply sloping acetabulae, wrist contracture, slender long bones with mildly flared metaphyses, moderate kyphoscoliosis; brisk reflexes, no feeding problems; MRI brain at birth possible polymicrogyria; NMR 4m-large bilateral subdurals (>2 cm in depth), no major visible malformations; ECG 9m-abnormal; 16m-nystagmus, no other ophthalmic abnormalities, corneas completely clear, no cataracts; 2.5y-deceased ERCC1 ERCC1 1 1 Johan den Dunnen
00306119 PatCS1USAU PubMed: Kashiyama 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - CS prenatal microcephaly; born 41w, weight 2.9 kg, OFC 9th percentile first few months, OFC 1y-<2nd percentile; first year developed normally; 5y-multiple unusual plantar warts hands and forearms, unusual freckling hands and back of neck, tended to burn easily and quickly, no bad blisterering when exposed to sunlight; 7y-deep-set eyes, progressive scoliosis, multiple contractures feet, required lengthening Achilles tendon because of muscle cramps in hamstrings and calves; skin deeply pigmented, rashes, flat freckles; moderate bilateral hearing impairment, especially higher tones (<3y-normal hearing), short stature (height 110.4 cm [<2nd percentile], weight of 16.3 kg [<3rd percentile]), microcephaly (OFC 45.5 cm [<2nd percentile]), circulatory problems, bilateral astigmatism, no cataracts, attention deficit hyperactivity disorder, learning disability; MRI brain 3y-some delayed myelination, 7y-basal ganglia T1 shortening; severe migraines and headaches, ambulation lessened over time, gastrostomy-jejunostomy tube for feeding ERCC4 ERCC4 2 1 Johan den Dunnen
00306122 PatXPCS1CD PubMed: Kashiyama 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan - 12y - - - CS see paper; ..., 12y-deceased ERCC4 ERCC4 2 1 Johan den Dunnen
00466859 NDSF02-1 - 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F - Pakistan South asian - - - - CS - - ERCC8 1 2 Arisha Rasheed
00466860 NDSF02-2 - sib M yes Pakistan South asian - - - - CS - - ERCC8 1 1 Arisha Rasheed
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.