Genopathy
Gene-Disorder Association · Article
Gene
CPT1B
Carnitine Palmitoyltransferase 1B
Disorder
Carnitine Palmitoyltransferase I Deficiency
First reported 1993
Key publication · gene–disorder Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia.European journal of pediatrics · 1993
Key publication · disorder [Clinical, morphological and biochemical studies on muscle carnitine deficiency (author's transl)].Klinische Wochenschrift · 1979
Manually curated
Association Review

In brief

The association between CPT1B (Carnitine Palmitoyltransferase 1B) and Carnitine Palmitoyltransferase I Deficiency is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 55
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
CPT1B

The gene

1 source summary

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

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04
Carnitine Palmitoyltransferase I Deficiency

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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05
Phenotype

Clinical features

37 clinical features

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

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06
Provenance

References & sources

7 references

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

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