Genopathy
Gene-Disorder Association · Article
Gene
SPG38
Spastic Paraplegia 38 (Autosomal Dominant, Silver Syndrome)
Disorder
Spastic Paraplegia 38, Autosomal Dominant
First reported 1980
Key publication · disorder [Familial spastic paraplegia. Genetic-scientific discussion apropos of an affected family].Arquivos de neuro-psiquiatria · 1980
Manually curated
Association Review

In brief

The association between SPG38 (Spastic Paraplegia 38 (Autosomal Dominant, Silver Syndrome)) and Spastic Paraplegia 38, Autosomal Dominant is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 0
Symptoms 35
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

2 sources

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

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03
Spastic Paraplegia 38, Autosomal Dominant

The disorder

10 database identifiers

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

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04
Phenotype

Clinical features

29 clinical features

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

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05
Provenance

References & sources

4 references

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

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