Sanfilippo syndrome type B

General Information (adopted from Orphanet):

Synonyms, Signs: MPS IIIB
NAGLU DEFICIENCY
SANFILIPPO SYNDROME B
N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
MPS3B
N-acetyl-alpha-glucosaminidase deficiency
Mucopolysaccharidosis type 3B
Number of Symptoms 33
OrphanetNr: 79270
OMIM Id: 252920
ICD-10: E76.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Mucopolysaccharidosis type 3
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002159) Heparan sulfate excretion in urine 12 / 7739
2
 (HPO:0000280) Coarse facial features 189 / 7739
3
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
4
 (HPO:0000664) Synophrys 112 / 7739
5
 (HPO:0000250) Dense calvaria 6 / 7739
6
 (HPO:0000365) Hearing impairment 539 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0001250) Seizures 1245 / 7739
9
 (HPO:0002344) Progressive neurologic deterioration 27 / 7739
10
 (HPO:0000752) Hyperactivity 140 / 7739
11
 (HPO:0000718) Aggressive behavior 109 / 7739
12
 (HPO:0002360) Sleep disturbance 113 / 7739
13
 (HPO:0003309) Ovoid thoracolumbar vertebrae 6 / 7739
14
 (HPO:0001387) Joint stiffness 322 / 7739
15
 (HPO:0000900) Thickened ribs 9 / 7739
16
 (HPO:0000943) Dysostosis multiplex 22 / 7739
17
 (HPO:0001744) Splenomegaly 337 / 7739
18
 (HPO:0002240) Hepatomegaly 467 / 7739
19
 (HPO:0002014) Diarrhea 225 / 7739
20
 (HPO:0001007) Hirsutism 91 / 7739
21
 (HPO:0002208) Coarse hair 58 / 7739
22
 (HPO:0001640) Cardiomegaly 81 / 7739
23
 (HPO:0001670) Asymmetric septal hypertrophy 19 / 7739
24
 (HPO:0003621) Juvenile onset 105 / 7739
25
 (OMIM) Dysostosis multiplex, mild (in some patients) 5 / 7739
26
 (OMIM) Slowing mental development by 1.5 to 3 years of age 3 / 7739
27
 (OMIM) Hepatomegaly, mild 8 / 7739
28
 (OMIM) Clear cornea 6 / 7739
29
 (OMIM) N-acetyl-alpha-D-glucosaminidase deficiency in fibroblasts 1 / 7739
30
 (OMIM) Coarse facies, mild 3 / 7739
31
 (OMIM) Mild splenomegaly 6 / 7739
32
 (OMIM) Severe behavioral problems at age 3-4 years 1 / 7739
33
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to ...
Diagnosis OMIM - Prenatal Diagnosis

Kleijer et al. (1984) made the prenatal diagnosis of Sanfilippo syndrome B and found that elevated heparan sulfate in the amniotic fluid complemented the enzyme assay.

Minelli et al. (1988) made ...
Clinical Description OMIM Harris (1961) may have reported the earliest case of Sanfilippo syndrome. The same patient was later shown by Neufeld (1973) to have MPS IIIB.

Van Schrojenstein-de Valk and van de Kamp (1987) reviewed 7 patients, aged ...
Molecular genetics OMIM Using SSCP analysis of PCR-amplified segments of genomic DNA from patients with Sanfilippo syndrome B, Zhao et al. (1996) identified several recessive mutations in the NAGLU gene (see, e.g., 609701.0001-609701.0005).

In a mutation screen of 20 ...
Population genetics OMIM In series of cases of Sanfilippo syndrome collected in most parts of the world, type A is more frequent than type B. Among 11 patients in Greece, however, Beratis et al. (1986) found that 10 had type B ...