Neuraminidase deficiency

Preferred Label : Neuraminidase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sialidosis, type II; Mucolipidosis I; Ml I; Sialidase deficiency; Glycoprotein neuraminidase deficiency; Neug deficiency; Neuraminidase 1 deficiency; Neu deficiency; Neu1 deficiency; LIPOMUCOPOLYSACCHARIDOSIS;

Included titles and symbols : Sialidosis, type I; Cherry red spot--myoclonus syndrome; Myoclonus--cherry red spot syndrome;

Description : 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') to a variety of oligosaccharides and/or glycoproteins. The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (604369) is a form of 'free' sialic acid disease. - Classification Lowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the neuraminidase 1 gene (NEU1, 608272.0001);

Laboratory abnormalities : Proteinuria (type II, congenital); Increased urinary sialyloligosaccharides; Increased urinary sialylglycopeptides; Neuraminidase deficiency (white blood cells, fibroblasts, cultured amniotic cells);

Prefixed ID : #256550;

Details

Origin ID

256550;

UMLS CUI

C4282398;

Automatic exact mappings (from CISMeF team)
- Deficiency of sialidase (disorder) [SNOMED CT concept]
- Lipomucopolysaccharidosis [PASCAL descriptor]
- Mucolipidosis III [PASCAL descriptor]
- Neuraminidase 1 deficiency [MeSH concept]
- Sialidase deficiency [MeSH concept]
- Sialidosis type 1 (disorder) [SNOMED CT concept]
- lipomucopolysaccharidosis [MeSH concept]
Currated CISMeF NLP mapping
- Dysmorphic sialidosis (disorder) [SNOMED CT concept]
- Mucolipidosis [PASCAL descriptor]
- Mucolipidosis type I [MedDRA Preferred Term]
- Neuraminidase Deficiency [NCIt concept]
- Sialidosis [ORDO Disease]
- Sialidosis [MedDRA LLT]
- Sialidosis [ICD-11 More detail]
- Sialidosis (disorder) [SNOMED CT concept]
- Sialidosis type 2 [ORDO Disease]
- Sialidosis type 2 [ICD-11 More detail]
- dysmorphic sialidosis [SNOMED Notion]
- mucolipidoses [MeSH Descriptor]
- mucolipidosis type I [Disease (Nov.)]
- neuraminidase 1 deficiency [MeSH Supplementary Concept]
- sialidosis [SNOMED Notion]
- sialidosis type II [Disease (Nov.)]
- type I mucolipidosis [MeSH concept]
DO Cross reference
- glycoproteinosis [DO Concept]
False automatic mappings
- Sialidosis type 1 [ORDO Disease]
Genes related to phenotype
- Neuraminidase 1 [OMIM gene]
HPO term(s)
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone-marrow foam cells [HPO term]
- Cardiomegaly [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Cherry red spot of the macula [HPO term]
- Coarse facial features [HPO term]
- Dysmetria [HPO term]
- Dysostosis multiplex [HPO term]
- Epiphyseal stippling [HPO term]
- Facial edema [HPO term]
- Generalized hypotonia [HPO term]
- Hepatomegaly [HPO term]
- Hydrops fetalis [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Increased urinary O-linked sialopeptides [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Large vacuolated foam cells ('NP cells') on bone marrow biopsy [HPO term]
- Muscle weakness [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Progressive visual loss [HPO term]
- Proteinuria [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slurred speech [HPO term]
- Splenomegaly [HPO term]
- Stillbirth [HPO term]
- Urinary excretion of sialylated oligosaccharides [HPO term]
- Vacuolated lymphocytes [HPO term]
ORDO concept(s)
- Sialidosis type 1 [ORDO Disease]
- Sialidosis type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of sialidase (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Sialidosis type 1 [ICD-11 More detail]
Validated automatic mappings to NTBT
- Mucolipidosis [NCIt concept]
- mucolipidosis [Disease (Nov.)]

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