Parkinsonism-dystonia 2, infantile-onset

Preferred Label : Parkinsonism-dystonia 2, infantile-onset;

Symbol : PKDYS2;

CISMeF acronym : PKDYS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brain monoamine vesicular transport disease; Brain dopamine-serotonin vesicular transport disease;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 18 (vesicular monoamine), member 2 gene (SLC18A2, 193001.0001);

Laboratory abnormalities : Normal levels of CSF neurotransmitters; Increased urinary homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA); Decreased urinary norepinephrine and dopamine;

Prefixed ID : #618049;

Détails

Origin ID

618049;

UMLS CUI

C4303546;

Automatic exact mappings (from CISMeF team)
- Brain dopamine-serotonin vesicular transport disease [ORDO Disease]
Genes related to phenotype
- Solute carrier family 18 (vesicular monoamine), member 2 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Delayed ability to walk [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dystonia [HPO term]
- Gait ataxia [HPO term]
- Global developmental delay [HPO term]
- Hyperhidrosis [HPO term]
- Hyperreflexia [HPO term]
- Incoordination [HPO term]
- Infantile onset [HPO term]
- Nasal speech [HPO term]
- Oculogyric crisis [HPO term]
- Parkinsonism [HPO term]
- Ptosis [HPO term]
- Shuffling gait [HPO term]
- Stooped posture [HPO term]
- Stridor [HPO term]
- Temperature instability [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Brain dopamine-serotonin vesicular transport disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brain dopamine-serotonin vesicular transport disease (disorder) [SNOMED CT concept]

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