Genopathy
Gene-Disorder Association · Article
Gene
HADHB
Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Beta
Disorder
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a
First reported 1955
Key publication · disorder Familial, central, areolar, choroidal atrophy of autosomal dominant inheritance.Acta ophthalmologica · 1955
Manually curated
Association Review

In brief

The association between HADHB (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Beta) and Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 57
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
HADHB

The gene

1 source summary

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

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04
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a

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

33 clinical features

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

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06
Provenance

References & sources

5 references

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

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