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Congenital sialidosis type 2
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Sialidosis type 1
1 OMIM reference -
1 associated gene
40 signs/symptoms
Congenital sialidosis type 2
Sialidosis type 1

NEU1
(UniProt - OMIM)
 NEU1
(UniProt - OMIM)

COMMON
GENES 		NEU1


Citations in the biomedical literature:


Congenital sialidosis type 2
NEU1
Sialidosis type 1



Congenital sialidosis type 2
Sialidosis type 1

Synonym(s):
(no synonyms)

Synonym(s):
- Cherry-red spot-myoclonus syndrome
- Lipomucopolysaccharidosis
- Normomorphic sialidosis
- Syndrome "cherry-red spot-myoclonus"
Classification (Orphanet):
- Inborn errors of metabolism
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
Sialidosis type 1

Very frequent
- Abnormal gait
- Aminoacid metabolism anomalies / aminoaciduria
- Ataxia / incoordination / trouble of the equilibrium
- Autosomal recessive inheritance
- Broad nasal root
- Coarse face
- Corneal clouding / opacity / vascularisation
- Delayed bone age
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Lipidosis / sulfatidosis
- Macular pigmentary anomaly / cherry-red spot
- Mild visual loss / impaired visual acuity
- Movement disorder
- Nystagmus
- Pectus carinatum
- Retinopathy
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Splenomegaly
- Storage liver disease
- Thick lips
- Vascular anomalies of skin / mucosae
- Visual loss / blindness / amblyopia

Frequent
- Abnormal vertebral size / shape
- Central neuropathy
- EEG anomalies
- Frontal bossing / prominent forehead
- Herniae
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Nerve conduction abnormality
- Tremor

Occasional
- Cataract / lens opacification
- Kyphosis


Congenital sialidosis type 2

(no data available)