SCHINDLER DISEASE, TYPE I

Question 1

What is  SCHINDLER DISEASE, TYPE I?

Accepted Answer

rare
autosomal recessive
mutation in the alpha-N-acetylgalactosaminidase gene (NAGA)
type I: Schindler disease, infantile onset neuroaxonal dystrophy
type II:Kanzaki disease, adult-onset peripheral neuroaxonal degeneration, angiokeratoma corporis diffusum and mild intellectual impairment may present as a non-disease (present healthy case) [Bakker HD et al. 2001]
type III: intermediate form

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Schindler-Krankheit Typ I; Alpha-N-Acetylgalactosaminidase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609241

Question 4

Which enzymes are involved?

Accepted Answer

Alpha-N-acetylgalactosaminidase

Disease	SCHINDLER DISEASE, TYPE I
Synonym	ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I; SCHINDLER DISEASE, TYPE III, INCLUDED
OMIM	609241 OMIM = Online Mendelian Inheritance of Men
Orphanet	3137
Protein (UniProt)	Alpha-N-acetylgalactosaminidase
ExPASy	3.2.1.49
Gene locus	22q13.2
ICD	E77.1
Summary	rare autosomal recessive mutation in the alpha-N-acetylgalactosaminidase gene (NAGA) type I: Schindler disease, infantile onset neuroaxonal dystrophy type II:Kanzaki disease, adult-onset peripheral neuroaxonal degeneration, angiokeratoma corporis diffusum and mild intellectual impairment may present as a non-disease (present healthy case) [Bakker HD et al. 2001] type III: intermediate form
Laboratory findings	alpha-N-Acetylgalactosaminidase dec (fibroblasts) alpha-N-Acetylgalactosaminidase dec (lymphoblasts) alpha-N-Acetylgalactosaminidase dec (plasma) Glycopeptides inc (urine) Oligosaccharides inc (urine)
Symptoms	blindness, visual loss, visual impairment cataract cerebellar atrophy or hypoplasia cerebral atrophy contractures, joints CT, brain, abnormalities [-] decreased muscle volume, atrophy or hypoplasia developmental delay EEG abnormalities [-] epilepsy hyperreflexia hypotonia mental retardation motor retardation MRI, brain, abnormalities [-] myoclonus neurological deterioration normal at birth nystagmus onset, childhood onset, infancy optic atrophy seizures strabismus