Sanfilippo syndrome type D

General Information (adopted from Orphanet):

Synonyms, Signs: MPS IIID
SANFILIPPO SYNDROME D
N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY
Mucopolysaccharidosis type 3D
GNS deficiency
Glucosamine N-acetyl-6-sulfatase deficiency
Number of Symptoms 50
OrphanetNr: 79272
OMIM Id: 252940
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:

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:0002788) Recurrent upper respiratory tract infections 31 / 7739
3
 (HPO:0011220) Prominent forehead 137 / 7739
4
 (HPO:0000574) Thick eyebrow 96 / 7739
5
 (HPO:0000154) Wide mouth 137 / 7739
6
 (HPO:0000280) Coarse facial features 189 / 7739
7
 (HPO:0000664) Synophrys 112 / 7739
8
 (HPO:0012471) Thick vermilion border 115 / 7739
9
 (HPO:0000470) Short neck 345 / 7739
10
 (HPO:0005280) Depressed nasal bridge 381 / 7739
11
 (HPO:0000463) Anteverted nares 305 / 7739
12
 (HPO:0002007) Frontal bossing 366 / 7739
13
 (HPO:0002307) Drooling 43 / 7739
14
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
15
 (HPO:0000505) Visual impairment 297 / 7739
16
 (HPO:0000369) Low-set ears 372 / 7739
17
 (HPO:0000365) Hearing impairment 539 / 7739
18
 (HPO:0001344) Absent speech 57 / 7739
19
 (HPO:0001260) Dysarthria 329 / 7739
20
 (HPO:0001250) Seizures 1245 / 7739
21
 (HPO:0000752) Hyperactivity 140 / 7739
22
 (HPO:0002360) Sleep disturbance 113 / 7739
23
 (HPO:0002015) Dysphagia 301 / 7739
24
 (HPO:0001249) Intellectual disability 1089 / 7739
25
 (HPO:0000943) Dysostosis multiplex 22 / 7739
26
 (HPO:0003309) Ovoid thoracolumbar vertebrae 6 / 7739
27
 (HPO:0000900) Thickened ribs 9 / 7739
28
 (HPO:0001371) Flexion contracture 220 / 7739
29
 (HPO:0001387) Joint stiffness 322 / 7739
30
 (HPO:0002240) Hepatomegaly 467 / 7739
31
 (HPO:0002014) Diarrhea 225 / 7739
32
 (HPO:0001744) Splenomegaly 337 / 7739
33
 (HPO:0001507) Growth abnormality 36 / 7739
34
 (HPO:0001007) Hirsutism 91 / 7739
35
 (HPO:0002208) Coarse hair 58 / 7739
36
 (HPO:0001670) Asymmetric septal hypertrophy 19 / 7739
37
 (HPO:0003653) Cellular metachromasia 2 / 7739
38
 (OMIM) Sleep disturbances common 3 / 7739
39
 (OMIM) Slowing mental development by 1.5 to 3 years of age 3 / 7739
40
 (OMIM) Hepatomegaly, mild 8 / 7739
41
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
 (OMIM) Mild dysotosis multiplex 1 / 7739
43
 (OMIM) Severe behavioral problems beginning at 3 to 4 years of age 1 / 7739
44
 (HPO:0003676) Progressive disorder 148 / 7739
45
 (OMIM) Lack of speech 17 / 7739
46
 (OMIM) Normal stature 7 / 7739
47
 (OMIM) Mild splenomegaly 6 / 7739
48
 (OMIM) Clear cornea 6 / 7739
49
 (OMIM) N-acetylglucosamine-6-sulfate sulfatase deficiency 1 / 7739
50
 (OMIM) Metachromasia of white blood cells and fibroblasts 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate ...
Clinical Description OMIM Kresse et al. (1980) reported a 7-year-old East Indian boy living in England and a 4-year-old girl from Sardinia with Sanfilippo disease type D. The boy was mentally retarded and had 'characteristic behavioral disturbances.' The girl showed coarse ...
Molecular genetics OMIM From genomic DNA of a patient with MPS IIID, Mok et al. (2003) amplified and sequenced the promoter and 14 exons of GNS and found a homozygous nonsense mutation in exon 9 which predicted a premature termination mutation, ...