Multiple sulfatase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: SULFATIDOSIS, JUVENILE, AUSTIN TYPE
MSD
mucosulfatidosis
Austin type juvenile sulfatidosis
Number of Symptoms 63
OrphanetNr: 585
OMIM Id: 272200
ICD-10: E75.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 50 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with fatal disease course
 -Rare genetic disease
 -Rare skin disease
Developmental anomaly of metabolic origin
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Lysosomal storage disease with skeletal involvement
 -Rare bone disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Sphingolipidosis
 -Rare genetic disease
Sphingolipidosis with epilepsy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008155) Mucopolysacchariduria 6 / 7739
2
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
3
 (HPO:0000280) Coarse facial features Frequent [Orphanet] 189 / 7739
4
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
5
 (HPO:0012368) Flat face 106 / 7739
6
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
7
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
8
 (HPO:0100539) Periorbital edema 8 / 7739
9
 (HPO:0000574) Thick eyebrow Frequent [Orphanet] 96 / 7739
10
 (HPO:0011220) Prominent forehead 137 / 7739
11
 (HPO:0002003) Large forehead 9 / 7739
12
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
13
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
14
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
15
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
16
 (HPO:0007957) Corneal opacity variable [HPO:skoehler] 84 / 7739
17
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
18
 (HPO:0000546) Retinal degeneration 61 / 7739
19
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
20
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
21
 (HPO:0000365) Hearing impairment 539 / 7739
22
 (HPO:0011096) Peripheral demyelination 28 / 7739
23
 (HPO:0003134) Abnormality of peripheral nerve conduction Very frequent [Orphanet] 38 / 7739
24
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
25
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
26
 (HPO:0002922) Increased CSF protein 27 / 7739
27
 (HPO:0001249) Intellectual disability 1089 / 7739
28
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
29
 (HPO:0001251) Ataxia 413 / 7739
30
 (HPO:0002344) Progressive neurologic deterioration 27 / 7739
31
 (HPO:0001263) Global developmental delay 853 / 7739
32
 (HPO:0007307) Rapid neurologic deterioration 3 / 7739
33
 (HPO:0001257) Spasticity 251 / 7739
34
 (HPO:0000943) Dysostosis multiplex 22 / 7739
35
 (HPO:0008479) Hypoplastic vertebral bodies 12 / 7739
36
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
37
 (HPO:0011304) Broad thumb 39 / 7739
38
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
39
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
40
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
41
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
42
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
43
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
44
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
45
 (HPO:0002208) Coarse hair Frequent [Orphanet] 58 / 7739
46
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Very frequent [Orphanet] 17 / 7739
47
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
48
 (HPO:0001319) Neonatal hypotonia 101 / 7739
49
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739
50
 (HPO:0007305) CNS demyelination 21 / 7739
51
 (OMIM) Decreased activities of multiple sulfatases 1 / 7739
52
 (HPO:0002059) Cerebral atrophy 171 / 7739
53
 (OMIM) Broad index fingers 1 / 7739
54
 (OMIM) Urinary excretion of mucopolysaccharides 1 / 7739
55
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
56
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
57
 (OMIM) Accumulation of sulfatides, glycosaminoglycans, sphingolipids, and steroid sulfates in tissues and body fluids 1 / 7739
58
 (HPO:0012795) Abnormality of the optic disc Frequent [Orphanet] 187 / 7739
59
 (OMIM) Hyperreflexia of the lower limbs 2 / 7739
60
 (HPO:0002119) Ventriculomegaly 253 / 7739
61
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
62
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
63
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Multiple sulfatase deficiency is an autosomal recessive inborn error of metabolism resulting in tissue accumulation of sulfatides, sulfated glycosaminoglycans, sphingolipids, and steroid sulfates. The enzymatic defect affects the whole family of sulfatase enzymes; thus, the disorder combines features ...
Clinical Description OMIM The clinical features of multiple sulfatase deficiency are an interesting composite of those seen with deficiency of the individual sulfatases. Kihara (1982) pointed out that multiple sulfatase deficiency combines the enzyme deficiency and phenotypic features of at least ...
Genotype-Phenotype Correlations OMIM Schlotawa et al. (2011) observed clear genotype/phenotype correlations among 10 patients with MSD, including 1 with neonatal onset, 7 with severe late-infantile onset, and 2 with mild late-infantile onset. The most severely affected patient with neonatal onset had ...
Molecular genetics OMIM Dierks et al. (2003) and Cosma et al. (2003) identified homozygous or compound heterozygous mutations in the SUMF1 gene in patients with MSD (see, e.g., 607939.0001-607939.0010).