Sanfilippo syndrome type A

General Information (adopted from Orphanet):

Synonyms, Signs: MPS IIIA
SULFAMIDASE DEFICIENCY
HEPARAN SULFATE SULFATASE DEFICIENCY
SANFILIPPO SYNDROME A
MPS3A
Mucopolysaccharidosis type 3A
Heparan sulfamidase deficiency
Number of Symptoms 24
OrphanetNr: 79269
OMIM Id: 252900
ICD-10: E76.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.3 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

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:0000664) Synophrys 112 / 7739
3
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
4
 (HPO:0000250) Dense calvaria 6 / 7739
5
 (HPO:0000365) Hearing impairment 539 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0001249) Intellectual disability 1089 / 7739
8
 (HPO:0000752) Hyperactivity 140 / 7739
9
 (HPO:0001387) Joint stiffness 322 / 7739
10
 (HPO:0003309) Ovoid thoracolumbar vertebrae 6 / 7739
11
 (HPO:0002014) Diarrhea 225 / 7739
12
 (HPO:0002208) Coarse hair 58 / 7739
13
 (HPO:0001007) Hirsutism 91 / 7739
14
 (HPO:0001670) Asymmetric septal hypertrophy 19 / 7739
15
 (OMIM) Usually normal stature 2 / 7739
16
 (OMIM) Clear cornea 6 / 7739
17
 (OMIM) Heparan N-sulfatase deficiency in fibroblasts and amniocytes 1 / 7739
18
 (OMIM) Slowing mental development by 1.5 to 3 years 1 / 7739
19
 (OMIM) Sleep disturbances common 3 / 7739
20
 (OMIM) Severe behavioral problems at age 3-4 2 / 7739
21
 (OMIM) Coarse facies, mild 3 / 7739
22
 (OMIM) Hepatomegaly, mild 8 / 7739
23
 (OMIM) Mild splenomegaly 6 / 7739
24
 (OMIM) Dysostosis multiplex, mild (in some patients) 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic ...
Diagnosis OMIM Toone and Applegarth (1988) used an enzymatic method to identify heterozygotes by studying leukocytes or fibroblasts. Stone et al. (1990) found that in an assay at 55 degrees C heterozygous carriers could be distinguished with complete certainty from ...
Clinical Description OMIM In the Sanfilippo syndrome, of which 4 enzymatically distinct forms are recognized, only heparan sulfate is excreted in the urine. The clinical features are severe mental defect with relatively mild somatic features (moderately severe claw hand and visceromegaly, ...
Genotype-Phenotype Correlations OMIM Valstar et al. (2010) retrospectively reviewed the clinical features of 92 patients with MPS IIIA, including 32 living and 60 deceased individuals. There was wide phenotypic variability that correlated with genotype. In particular, those with 1 or more ...
Molecular genetics OMIM For a discussion of the molecular genetics of Sanfilippo syndrome A, and a listing of disease-causing allelic variants of the N-sulfoglucosamine sulfohydrolase gene (SGSH), see 605270.
Population genetics OMIM In British Columbia, between 1952 and 1986, 4 cases of MPS IIIA were observed, giving a frequency of 1 in 324,617 live births (Lowry et al., 1990).

Using multiple ascertainment sources, Nelson et al. (2003) obtained ...