Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory...
30 KB (3,342 words) - 11:26, 22 August 2024
multiple genes which often contribute to Aicardi–Goutières syndrome when mutated. Aicardi–Goutières syndrome is a genetic inflammatory disease primarily...
38 KB (4,802 words) - 18:44, 25 April 2024
SAMHD1 (section Aicardi-Goutieres syndrome)
ribonuclease activity. The SAMHD1 protein is also known as: AGS5: Aicardi- Goutières syndrome type 5 DCIP: Dendritic cell-derived IFNG-induced protein2 Mg21:...
24 KB (2,776 words) - 16:48, 29 April 2024
which are among the genetic causes of a rare disease known as Aicardi–Goutières syndrome. A third type, closely related to H2, is found only in a few prokaryotes...
54 KB (5,823 words) - 20:53, 22 July 2024
diseases such as lupus or vasculitis. In infants affected by Aicardi–Goutières syndrome (a rare inherited condition which affects the nervous system)...
13 KB (1,320 words) - 06:58, 20 July 2024
syndrome Advanced sleep phase disorder Aerotoxic syndrome Afferent loop syndrome Aicardi syndrome Aicardi–Goutières syndrome AIDS dysmorphic syndrome...
42 KB (4,068 words) - 22:25, 3 September 2024
– Aicardi syndrome and Aicardi–Goutières syndrome. Aicardi syndrome affects only females, and in very rare cases, males with Klinefelter syndrome. He...
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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...
42 KB (983 words) - 10:34, 21 August 2024
Microcephaly (redirect from Merlob syndrome)
breakage syndrome X-linked lissencephaly with abnormal genitalia Aicardi–Goutières syndrome Ataxia telangiectasia Cohen syndrome Cockayne syndrome Acquired...
45 KB (4,208 words) - 02:45, 31 July 2024
Diseases: Dyschromatosis Symmetrica Hereditaria (OMIM: 127400), Aicardi-Goutières syndrome (OMIM: 615010) and Bilateral Striatal Necrosis/Dystonia. Families...
34 KB (4,310 words) - 05:43, 18 September 2024