Genopathy
Gene-Disorder Association · Article
Gene
TH
Tyrosine Hydroxylase
Disorder
Segawa Syndrome, Autosomal Recessive
First reported 1998
Supporting publications 70
Key publication · gene–disorder Biochemical hallmarks of tyrosine hydroxylase deficiency.Clinical chemistry · 1998
Key publication · disorder [Progressive extra-pyramidal disorder in 2 young brothers. Remarkable effects of treatment with L-dopa].Revue neurologique · 1971
Manually curated
Association Review

In brief

The association between TH (Tyrosine Hydroxylase) and Segawa Syndrome, Autosomal Recessive is well established and manually curated, with its 6 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 6
Clinical variants 1,079
Symptoms 53
Compounds 0
Trials 0
Publications 70
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

6 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
TH

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Segawa Syndrome, Autosomal Recessive

The disorder

11 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

37 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

1,079 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Genomic context

Regulatory context

2 regulatory elements

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

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08
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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09
Literature

Reading

70 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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10
Provenance

References & sources

20 references

Every source and publication cited across this dossier, as one numbered reference list.

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