SPTLC1 and Hereditary Sensory And Autonomic Neuropathy: Association Evidence

Gene-Disorder Association · Article

Gene

SPTLC1

Serine Palmitoyltransferase Long Chain Base Subunit 1

Disorder

Hereditary Sensory And Autonomic Neuropathy

First reported 2005

Key publication · gene–disorder Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.Brain : a journal of neurology · 2005

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 SPTLC1 (Serine Palmitoyltransferase Long Chain Base Subunit 1) 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 0

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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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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SPTLC1

The gene

1 source summary

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

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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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Provenance

References & sources

2 references

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

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