HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1

Question 1

What is  HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1?

Accepted Answer

very rare

autosomal recessive

mutation in the PIGV gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 239300

Question 3

Which enzymes are involved?

Accepted Answer

GPI mannosyltransferase 2

Disease	HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1
Synonym	MABRY SYNDROME
OMIM	239300 OMIM = Online Mendelian Inheritance of Men
Orphanet	247262
Protein (UniProt)	GPI mannosyltransferase 2
Gene locus	1p36.11
ICD
Summary	very rare autosomal recessive mutation in the PIGV gene
Laboratory findings	Phosphatase, alkaline inc (serum)
Symptoms	anal anomalies athetosis cardiac involvement, cardiac defects cleft palate dysmorphism EEG abnormalities [-] epilepsy hearing defect, deafness hypertelorism hypotonia mental retardation onset, infancy onset, neonatal plagiocephaly renal dysfunction, renal defects seizures speech development, delayed, abnormal