Adenylosuccinase deficiency

Preferred Label : Adenylosuccinase deficiency;

Symbol : ADSLD;

CISMeF acronym : ADSLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adenylosuccinate lyase deficiency; Adsl deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenylosuccinate lyase gene (ADSL, 608222.0001);

Laboratory abnormalities : Increased succinylaminoimidazole carboxamide ribotide (SAICAr); Increased succinyladenosine (S-Ado) in serum, urine, and CSF; Decreased S-Ado:SAICAr ratio; Adenylosuccinase deficiency;

Prefixed ID : #103050;

Details

Origin ID

103050;

UMLS CUI

C0268126;

Automatic exact mappings (from CISMeF team)
- Adenylosuccinate lyase deficiency [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Adenylosuccinate lyase deficiency [ICD-11 More detail]
- Adenylosuccinate lyase deficiency [MeSH concept]
- Adenylosuccinate lyase deficiency [ORDO Disease]
- Adenylosuccinate lyase deficiency (disorder) [SNOMED CT concept]
- adenylosuccinate lyase deficiency [Disease (Nov.)]
- adenylosuccinate lyase deficiency [MeSH Supplementary Concept]
- adenylosuccinate lyase deficiency [SNOMED Notion]
DO Cross reference
- adenylosuccinase lyase deficiency [DO Concept]
Genes related to phenotype
- Adenylosuccinate lyase [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Anteverted nares [HPO term]
- Autism [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Brisk reflexes [HPO term]
- CNS hypomyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral hypomyelination [HPO term]
- Delayed speech and language development [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- Happy demeanor [HPO term]
- Hyperactivity [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Inappropriate laughter [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Opisthotonus [HPO term]
- Poor eye contact [HPO term]
- Prominent metopic ridge [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Severe global developmental delay [HPO term]
- Short nose [HPO term]
- Skeletal muscle atrophy [HPO term]
- Smooth philtrum [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Adenylosuccinate lyase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenylosuccinate lyase deficiency [ORDO Disease]
- Adenylosuccinate lyase deficiency [MeSH concept]
- Adenylosuccinate lyase deficiency [ICD-11 More detail]
- Adenylosuccinate lyase deficiency [MedDRA Preferred Term]
- Adenylosuccinate lyase deficiency (disorder) [SNOMED CT concept]
- adenylosuccinate lyase deficiency [MeSH Supplementary Concept]
- adenylosuccinate lyase deficiency [SNOMED Notion]
- adenylosuccinate lyase deficiency [Disease (Nov.)]

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