HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Question 1

What is  HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6?

Accepted Answer

very rare

autosomal recessive

mutation in the PIGY gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616809

Question 3

Which enzymes are involved?

Accepted Answer

Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y

Disease	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6
OMIM	616809 OMIM = Online Mendelian Inheritance of Men
Orphanet	247262
Protein (UniProt)	Phosphatidylinositol N-acetylglucosaminyltransferase subunit Y
ExPASy	2.4.1.198
Gene locus	4q22.1
ICD
Summary	very rare autosomal recessive mutation in the PIGY gene
Laboratory findings	Creatine kinase inc (serum) Phosphatase, alkaline inc (serum)
Symptoms	behavior, hyperactive, restless blindness, visual loss, visual impairment cataract clinodactyly contractures, joints developmental delay developmental regression dysmorphism feeding difficulties, poor feeding growth retardation, poor growth hypotonia microcephaly (<2 SD for age) osteopenia polyhydramnion (maternal) seizures speech development, delayed, abnormal strabismus