Genopathy
Gene-Disorder Association · Article
Gene
SPTLC1
Serine Palmitoyltransferase Long Chain Base Subunit 1
Disorder
Neuropathy, Hereditary Sensory, Type Ie
First reported 2001
Supporting publications 24
Key publication · gene–disorder Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.Nature genetics · 2001
Key publication · disorder An unusual case of acrodystrophic neuropathy.Postgraduate medical journal · 1972
Manually curated
Association Review

In brief

The association between SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1) and Neuropathy, Hereditary Sensory, Type Ie is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 389
Symptoms 57
Compounds 0
Trials 0
Publications 24
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

3 sources

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
Neuropathy, Hereditary Sensory, Type Ie

The disorder

18 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

42 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

389 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

1 shared pathway

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

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08
Literature

Reading

24 publications

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

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09
Provenance

References & sources

19 references

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

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