Cockayne Syndrome

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

ERCC6, ERCC8, SPRTN, SOS1, RIT1, RAF1, PTPN11, ATR, CEP63, LZTR1, KRAS, CENPJ, ERCC1, ERCC4, GTF2H2, LMNA, GTF2H3, HSPA9, NR1H2, ERCC5, GTF2H5, ERCC3, CSH2, ERCC2, CSH1, GTF2H1, GTF2H4, WRN, TP53, BANF1, XPC, ZMPSTE24, CAT, SMARCA1, HFM1, XPA, GLB1, UVSSA, HTRA3, TBC1D9, ENDOV, SIRT1, TRBV20OR9-2, B4GALT7, SYT9, CDCA8, HDAC9, BTN2A2, XAB2, USP7, ROBO3, SMARCA4, KL, POLR3A, ADA, SMARCA2, RAD52, AFP, ALPL, AMPD1, APEX1, ATF3, BDNF, BLM, BRCA2, CHEK1, DCN, DHFR, EYA1, FEN1, GYPA, GYPB, GYPE, IFNB1, MDM2, MT2A, NEFM, OGG1, PARP1, POLD1, MAPK8, PTH, PYCR1, RAD51, ABCB1

Drugs

[5,10,15,20-tetrakis(4-carboxyphenyl)-21H,23H-porphine]manganese(III) chloride

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Cockayne syndrome is a rare disease which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, very small head (microcephaly), and impaired nervous system development. Other symptoms may include hearing loss, tooth decay, vision problems, and bone abnormalities. There are three subtypes according to the severity of the disease and the onset of the symptoms:

Cockayne syndrome type 1 (type A), sometimes called “classic” or "moderate" Cockayne syndrome, diagnosed during early childhood
Cockayne syndrome type 2 (type B), sometimes referred to as the “severe” or "early-onset" type, presenting with growth and developmental abnormalities at birth
Cockayne syndrome type 3 (type C), a milder form of the disorder

Cockayne syndrome is caused by mutations in either the ERCC8 (CSA) or ERCC6 (CSB) genes. Inheritance is autosomal recessive. Type 2 is the most severe and affected people usually do not survive past childhood. Those with type 3 live into middle adulthood. There is no cure yet. Treatment is supportive and may include educational programs for developmental delay, physical therapy, gastrostomy tube placement as needed; medications for spasticity and tremor as needed; use of sunscreens and sunglasses; treatment of hearing loss and cataracts; and other forms of treatment, as needed.