AICARDI-GOUTIERES SYNDROME 5; AGS5

Question 1

What is  AICARDI-GOUTIERES SYNDROME 5; AGS5?

Accepted Answer

rare

autosmal recessive

mutation in the SAMHD1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 612952

Question 3

Which enzymes are involved?

Accepted Answer

Deoxynucleoside triphosphate triphosphohydrolase SAMHD1

Disease	AICARDI-GOUTIERES SYNDROME 5; AGS5
OMIM	612952 OMIM = Online Mendelian Inheritance of Men
Orphanet	51
Protein (UniProt)	Deoxynucleoside triphosphate triphosphohydrolase SAMHD1
Gene locus	20q11q.23
ICD	G31.8
Summary	rare autosmal recessive mutation in the SAMHD1 gene
Laboratory findings	alpha-Interferon inc (cerebrospinal fluid)
Symptoms	basal ganglia, changes, lesions, calcifications (MRI, CT) chorea or athetosis contractures, joints developmental delay feeding difficulties, poor feeding hypertonia, spasticity hypotonia irritability microcephaly (<2 SD for age) onset, childhood onset, infancy oral ulcers skin, abnormal skin, infections (macules, wheals, papules, pustules) thrombopenia, thrombocytopenia white matter changes, abnormalities