Sialuria - CISMeF

Preferred Label : Sialuria;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sialuria, french type;

Description : Sialuria is a rare inborn error of metabolism in which excessive free sialic acid is synthesized. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay (summary by Enns et al., 2001).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE, 603824.0001);

Laboratory abnormalities : Elevated urinary free sialic acid (N-acetylneuraminic acid); Elevated fibroblast free sialic acid;

Prefixed ID : #269921;

Details

Origin ID

269921;

UMLS CUI

C0342853;

Automatic exact mappings (from CISMeF team)
- Sialuria [ICD-11 More detail]
- sialuria [DO Concept]
Currated CISMeF NLP mapping
- Sialic Acid Storage Disease [NCIt concept]
- Sialic acid storage disease, severe infantile type (disorder) [SNOMED CT concept]
- Sialuria [ORDO Disease]
- Sialuria (disorder) [SNOMED CT concept]
- Sialuria, French type [MeSH concept]
- sialic acid storage disease [MeSH Descriptor]
- sialic acid storage disease [MeSH concept]
- sialic acid storage disease, severe infantile type [SNOMED Notion]
- sialic acid storage disorder [Disease (Nov.)]
- sialuria, french type [MeSH Supplementary Concept]
DO Cross reference
- sialuria [DO Concept]
Genes related to phenotype
- Udp-n-acetylglucosamine 2-epimerase/n-acetylmannosamine kinase [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Coarse facial features [HPO term]
- Epicanthus [HPO term]
- Frontal bossing [HPO term]
- Generalized hirsutism [HPO term]
- Global developmental delay [HPO term]
- Hepatomegaly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic nipples [HPO term]
- Inguinal hernia [HPO term]
- Long hallux [HPO term]
- Long philtrum [HPO term]
- Long, smooth philtrum [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Periorbital fullness [HPO term]
- Prominent forehead [HPO term]
- Protuberant abdomen [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Sleep apnea [HPO term]
- Smooth philtrum [HPO term]
- Splenomegaly [HPO term]
- Synophrys [HPO term]
- Thin upper lip vermilion [HPO term]
- Thoracic hypoplasia [HPO term]
- Wide nasal bridge [HPO term]
Not associated HPO term(s)
- Growth abnormality [HPO term]
ORDO concept(s)
- Sialuria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sialic Acid Storage Disease [NCIt concept]
- Sialic acid storage disease [MedDRA LLT]
- Sialuria (disorder) [SNOMED CT concept]
- sialic acid storage disease [MeSH Descriptor]
- sialic acid storage disease [MeSH concept]
- sialic acid storage disorder [Disease (Nov.)]
- sialuria [DO Concept]

Keyword's position in hierarchy(ies) :

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