Sialidosis type 1

General Information (adopted from Orphanet):

Synonyms, Signs: MUCOLIPIDOSIS I
NEURAMINIDASE 1 DEFICIENCY
NEU1 DEFICIENCY SIALIDOSIS, TYPE I, INCLUDED
GLYCOPROTEIN NEURAMINIDASE DEFICIENCY
NEU DEFICIENCY
NEUG DEFICIENCY
SIALIDOSIS, TYPE II
SIALIDASE DEFICIENCY
CHERRY RED SPOT--MYOCLONUS SYNDROME, INCLUDED
MYOCLONUS--CHERRY RED SPOT SYNDROME, INCLUDED
ML I
Normomorphic sialidosis
Cherry-red spot-myoclonus syndrome
lipomucopolysaccharidosis
Number of Symptoms 82
OrphanetNr: 812
OMIM Id: 256550
ICD-10: E77.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Metabolic disease with macular cherry-red spot
 -Rare eye disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Sialidosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria 169 / 7739
2
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
3
 (HPO:0000282) Facial edema 5 / 7739
4
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
5
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
6
 (HPO:0012471) Thick vermilion border Very frequent [Orphanet] 115 / 7739
7
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
8
 (HPO:0000529) Progressive visual loss 54 / 7739
9
 (HPO:0010729) Cherry red spot of the macula 10 / 7739
10
 (HPO:0008002) Abnormality of macular pigmentation Very frequent [Orphanet] 20 / 7739
11
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
12
 (HPO:0000488) Retinopathy Very frequent [Orphanet] 75 / 7739
13
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
14
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
15
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
16
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
17
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
18
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
19
 (HPO:0003134) Abnormality of peripheral nerve conduction Frequent [Orphanet] 38 / 7739
20
 (HPO:0001310) Dysmetria 76 / 7739
21
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
22
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
23
 (HPO:0001336) Myoclonus 115 / 7739
24
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
25
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
26
 (HPO:0002011) Morphological abnormality of the central nervous system Frequent [Orphanet] 5 / 7739
27
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
28
 (HPO:0002169) Clonus 37 / 7739
29
 (HPO:0007034) Generalized hyperreflexia 33 / 7739
30
 (HPO:0001350) Slurred speech 16 / 7739
31
 (HPO:0001347) Hyperreflexia 363 / 7739
32
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
33
 (HPO:0002267) Exaggerated startle response 42 / 7739
34
 (HPO:0001249) Intellectual disability 1089 / 7739
35
 (HPO:0002311) Incoordination 84 / 7739
36
 (HPO:0001260) Dysarthria 329 / 7739
37
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
38
 (HPO:0001251) Ataxia 413 / 7739
39
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
40
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
41
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
42
 (HPO:0000943) Dysostosis multiplex 22 / 7739
43
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
44
 (HPO:0010655) Epiphyseal stippling 32 / 7739
45
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
46
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
47
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
48
 (HPO:0000768) Pectus carinatum Very frequent [Orphanet] 136 / 7739
49
 (HPO:0001789) Hydrops fetalis 63 / 7739
50
 (HPO:0000023) Inguinal hernia 181 / 7739
51
 (HPO:0002240) Hepatomegaly 467 / 7739
52
 (HPO:0006568) Increased hepatic glycogen content Very frequent [Orphanet] 34 / 7739
53
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
54
 (HPO:0004299) Hernia of the abdominal wall Frequent [Orphanet] 176 / 7739
55
 (HPO:0001541) Ascites 94 / 7739
56
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
57
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
58
 (HPO:0011276) Vascular skin abnormality Very frequent [Orphanet] 24 / 7739
59
 (HPO:0001637) Abnormality of the myocardium 76 / 7739
60
 (HPO:0001640) Cardiomegaly 81 / 7739
61
 (HPO:0001638) Cardiomyopathy 192 / 7739
62
 (HPO:0004333) Bone-marrow foam cells 11 / 7739
63
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
64
 (HPO:0003119) Abnormality of lipid metabolism Very frequent [Orphanet] 60 / 7739
65
 (HPO:0003461) Increased urinary O-linked sialopeptides 5 / 7739
66
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
67
 (HPO:0012061) Urinary excretion of sialylated oligosaccharides 1 / 7739
68
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
69
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
70
 (HPO:0001324) Muscle weakness 859 / 7739
71
 (HPO:0010547) Muscle flaccidity 466 / 7739
72
 (HPO:0100295) Muscle fiber atrophy 22 / 7739
73
 (HPO:0003700) Generalized amyotrophy 39 / 7739
74
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
75
 (OMIM) Periosteal cloaking 3 / 7739
76
 (OMIM) Increased urinary sialylglycopeptides 1 / 7739
77
 (OMIM) Mental retardation, moderate to severe 20 / 7739
78
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
79
 (OMIM) Neonatal ascites (type II, congenital) 1 / 7739
80
 (OMIM) Neuraminidase deficiency 2 / 7739
81
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
82
 (OMIM) Still birth 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sialidosis is characterized by the progressive lysosomal storage of sialidated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') ...
Diagnosis OMIM - Prenatal Diagnosis

Sasagasako et al. (1993) reported the prenatal diagnosis of congenital sialidosis in a 21-week-old male fetus by enzyme assay of cultured amniotic fluid cells. This was the second affected sib. The first had ...
Clinical Description OMIM - Sialidosis Type II

Sialidosis was first recognized as a distinct entity by Spranger et al. (1968), who termed it a 'lipomucopolysaccharidosis.' They described a patient, who was later confirmed to have neuraminidase deficiency (see Spranger ...
Molecular genetics OMIM In 1 patient with sialidosis type I and in 2 patients with sialidosis type II, Bonten et al. (1996) identified mutations in the neuraminidase gene (608272.0001-608272.0003).

In 6 sialidosis patients, Pshezhetsky et al. (1997) identified 3 ...
Population genetics OMIM Lowden and O'Brien (1979) pointed out that sialidosis type I seems to be particularly frequent in Italians, and type II frequent in Japanese.