Genopathy
Gene-Disorder Association · Article
Gene
PKDCC
Protein Kinase Domain Containing, Cytoplasmic
Disorder
Rhizomelic Limb Shortening With Dysmorphic Features
First reported 2019
Supporting publications 3
Key publication · gene–disorder Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.Journal of medical genetics · 2019
Key publication · disorder Mosaic partial trisomy 17q2.Journal of medical genetics · 1991
Manually curated
Association Review

In brief

The association between PKDCC (Protein Kinase Domain Containing, Cytoplasmic) and Rhizomelic Limb Shortening With Dysmorphic Features is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 3
Clinical variants 14
Symptoms 71
Compounds 0
Trials 0
Publications 3
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
PKDCC

The gene

1 source summary

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

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04
Rhizomelic Limb Shortening With Dysmorphic Features

The disorder

5 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

27 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

14 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

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

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08
Literature

Reading

3 publications

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

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09
Provenance

References & sources

8 references

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

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