Parkinsonism-dystonia 1, infantile-onset

Preferred Label : Parkinsonism-dystonia 1, infantile-onset;

Symbol : PKDYS1;

CISMeF acronym : DTDS; PKDYS; PKDYS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : DTDS; Dopamine transporter deficiency syndrome; PKDYS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 6 (dopamine neurotransmitter transporter), member 3 gene (SLC6A3, 126455.0002);

Laboratory abnormalities : Increased CSF homovanillic acid (HVA); Normal CSF 5-hydroxyindoleacetic acid (5-HIAA);

Prefixed ID : #613135;

Détails

Origin ID

613135;

UMLS CUI

C5700336;

Automatic exact mappings (from CISMeF team)
- 5'-O-(4,4'-dimethoxytrityl)thymidine-3'-O-(2,4-dinitrophenyl) succinate [MeSH Supplementary Concept]
- SLC6A3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Dopamine Transporter Deficiency Syndrome [NCIt concept]
- Infantile dystonia parkinsonism (disorder) [SNOMED CT concept]
- Infantile dystonia-parkinsonism [ORDO Disease]
- Parkinsonism-Dystonia, infantile [MeSH concept]
- Parkinsonism-Dystonia, infantile [MeSH Supplementary Concept]
- dopamine transporter deficiency syndrome [Disease (Nov.)]
Genes related to phenotype
- Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Chorea [HPO term]
- Cogwheel rigidity [HPO term]
- Constipation [HPO term]
- Delayed gross motor development [HPO term]
- Dyskinesia [HPO term]
- Dystonia [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hyperkinetic movements [HPO term]
- Hypertonia [HPO term]
- Hypomimic face [HPO term]
- Infantile onset [HPO term]
- Limb dystonia [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Neonatal onset [HPO term]
- Ocular flutter [HPO term]
- Oculogyric crisis [HPO term]
- Oromandibular dystonia [HPO term]
- Parkinsonism [HPO term]
- Progressive [HPO term]
- Rigidity [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Infantile dystonia-parkinsonism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dopamine Transporter Deficiency Syndrome [NCIt concept]
- Infantile dystonia parkinsonism (disorder) [SNOMED CT concept]
- Infantile dystonia-parkinsonism [ORDO Disease]
- Parkinsonism-Dystonia, infantile [MeSH Supplementary Concept]
- Parkinsonism-Dystonia, infantile [MeSH concept]
- dopamine transporter deficiency syndrome [Disease (Nov.)]

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