Genopathy
Gene-Disorder Association · Article
Gene
SPTLC1
Serine Palmitoyltransferase Long Chain Base Subunit 1
Disorder
Charcot-Marie-Tooth Disease Type 4
First reported 1977
Key publication · disorder A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies.Archives of neurology · 1977
Manually curated
Association Review

In brief

The association between SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1) and Charcot-Marie-Tooth Disease Type 4 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
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
SPTLC1

The gene

1 source summary

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

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04
Charcot-Marie-Tooth Disease Type 4

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
Provenance

References & sources

3 references

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

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