Sialidosis type 2

General Information (adopted from Orphanet):

Synonyms, Signs: Infantile dysmorphic sialidosis
Number of Symptoms 38
OrphanetNr: 87876
OMIM Id: 256150
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: Antenatal
Neonatal
Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 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
Metabolic disease with cataract
 -Rare eye disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Nephropathy secondary to a storage or other metabolic disease
 -Rare genetic disease
 -Rare renal disease
Sialidosis
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic neurometabolic disease with non-X-linked intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000100) Nephrotic syndrome 83 / 7739
2
 (HPO:0000083) Renal insufficiency 232 / 7739
3
 (HPO:0000112) Nephropathy Very frequent [Orphanet] 92 / 7739
4
 (HPO:0001999) Abnormal facial shape 169 / 7739
5
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
6
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
7
 (HPO:0000598) Abnormality of the ear Very frequent [Orphanet] 98 / 7739
8
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
9
 (HPO:0010864) Intellectual disability, severe 120 / 7739
10
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
11
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
12
 (HPO:0001337) Tremor Frequent [Orphanet] 200 / 7739
13
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
14
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
15
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
16
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
17
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
18
 (HPO:0002808) Kyphosis Very frequent [Orphanet] 289 / 7739
19
 (HPO:0000768) Pectus carinatum Frequent [Orphanet] 136 / 7739
20
 (HPO:0001789) Hydrops fetalis Very frequent [Orphanet] 63 / 7739
21
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
22
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Frequent [Orphanet] 55 / 7739
23
 (HPO:0001541) Ascites Very frequent [Orphanet] 94 / 7739
24
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
25
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
26
 (HPO:0001698) Pericardial effusion 20 / 7739
27
 (HPO:0005561) Abnormality of bone marrow cell morphology Occasional [Orphanet] 11 / 7739
28
 (HPO:0004333) Bone-marrow foam cells 11 / 7739
29
 (HPO:0010741) Edema of the lower limbs Very frequent [Orphanet] 34 / 7739
30
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
31
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
32
 (HPO:0001324) Muscle weakness Occasional [Orphanet] 859 / 7739
33
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
34
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
35
 (HPO:0003593) Infantile onset 249 / 7739
36
 (HPO:0003819) Death in childhood 42 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: