Asparagine synthetase deficiency

Preferred Label : Asparagine synthetase deficiency;

Symbol : ASNSD;

CISMeF acronym : ASNSD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Asns deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the asparagine synthetase gene (ASNS, 108370.0001);

Laboratory abnormalities : Decreased asparagine levels (in some patients);

Prefixed ID : #615574;

Details

Origin ID

615574;

UMLS CUI

C3809971;

Automatic exact mappings (from CISMeF team)
- ASNS wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Asparagine Synthetase Deficiency [NCIt concept]
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) [SNOMED CT concept]
- Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome [ORDO Disease]
Genes related to phenotype
- Asparagine synthetase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral visual impairment [HPO term]
- Cortical dysplasia [HPO term]
- Delayed myelination [HPO term]
- Diaphragmatic eventration [HPO term]
- Encephalopathy [HPO term]
- Exaggerated startle response [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypsarrhythmia [HPO term]
- Large hands [HPO term]
- Long foot [HPO term]
- Macrotia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Profound global developmental delay [HPO term]
- Progressive [HPO term]
- Progressive microcephaly [HPO term]
- Respiratory insufficiency [HPO term]
- Seizure [HPO term]
- Simplified gyral pattern [HPO term]
- Sloping forehead [HPO term]
- Spastic tetraplegia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Asparagine Synthetase Deficiency [NCIt concept]
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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