Genopathy
Gene-Disorder Association · Article
Gene
SPTLC2
Serine Palmitoyltransferase Long Chain Base Subunit 2
Disorder
Hereditary Sensory And Autonomic Neuropathy
First reported 2002
Supporting publications 1
Key publication · gene–disorder Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.Neuromuscular disorders : NMD · 2002
Key publication · disorder Progressive muscular atrophy of the peroneal type (Charcot-Marie-Tooth disease) orthopaedic management and end-result study.The Journal of bone and joint surgery. American volume · 1950
Manually curated
Association Review

In brief

The association between SPTLC2 (Serine Palmitoyltransferase Long Chain Base Subunit 2) and Hereditary Sensory And Autonomic Neuropathy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
Compounds 0
Trials 0
Publications 1
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
SPTLC2

The gene

1 source summary

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

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04
Hereditary Sensory And Autonomic Neuropathy

The disorder

9 database identifiers

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

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05
Literature

Reading

1 publication

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

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06
Provenance

References & sources

3 references

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

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