Segawa syndrome, autosomal recessive

Preferred Label : Segawa syndrome, autosomal recessive;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dystonia, dopa-responsive, autosomal recessive; Dopa-responsive dystonia, autosomal recessive; Tyrosine hydroxylase deficiency; Parkinsonism, infantile, autosomal recessive;

Description : Segawa syndrome is an autosomal recessive neurologic disorder characterized by onset in infancy of dopa-responsive dystonia. There are 2 main phenotypes: one is a severe complex encephalopathy apparent in the perinatal period, with diurnal fluctuations and autonomic disturbances, and the other shows a less severe course with onset in the first year of life of a progressive hypokinetic-rigid syndrome and generalized dystonia. The less severe type shows a better response to levodopa compared to the more severe type (summary by Stamelou et al., 2012). See also infantile parkinsonism-dystonia syndrome (613135), caused by mutation in the SLC6A3 gene (126455).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tyrosine hydroxylase gene (TH, 191290.0001).;

Laboratory abnormalities : Decreased CSF 3-methoxy-4-hydroxyphenylethyleneglycol (MHPG); Normal CSF 5-HIAA; Decreased CSF homovanillic acid (HVA); Decreased activity of tyrosine hydroxylase;

Prefixed ID : #605407;

Details

Origin ID

605407;

UMLS CUI

C5700309;

Currated CISMeF NLP mapping
- Autosomal recessive dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal recessive dopa-responsive dystonia [ICD-11 More detail]
- Autosomal recessive dopa-responsive dystonia [ORDO Disease]
- Segawa syndrome, autosomal recessive [MeSH concept]
- Tyrosine Hydroxylase Deficiency [NCIt concept]
- Tyrosine hydroxylase deficiency [ICD-11 More detail]
- segawa syndrome, autosomal recessive [MeSH Supplementary Concept]
Genes related to phenotype
- Tyrosine hydroxylase [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed speech and language development [HPO term]
- Gait ataxia [HPO term]
- Hypokinesia [HPO term]
- Infantile onset [HPO term]
- Limb dystonia [HPO term]
- Mask-like facies [HPO term]
- Motor delay [HPO term]
- Myoclonus [HPO term]
- Parkinsonism [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Ptosis [HPO term]
- Rigidity [HPO term]
- Speech delay [HPO term]
- Tremor [HPO term]
- Usually autosomal dominant [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal recessive dopa-responsive dystonia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive dopa responsive dystonia (disorder) [SNOMED CT concept]
- Autosomal recessive dopa-responsive dystonia [ORDO Disease]
- Autosomal recessive dopa-responsive dystonia [ICD-11 More detail]
- Segawa syndrome, autosomal recessive [MeSH concept]
- Tyrosine Hydroxylase Deficiency [NCIt concept]
- Tyrosine hydroxylase deficiency [ICD-11 More detail]
- segawa syndrome, autosomal recessive [MeSH Supplementary Concept]

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