Genopathy
Gene-Disorder Association · Article
Gene
CDK5RAP2
CDK5 Regulatory Subunit Associated Protein 2
Disorder
Autosomal Recessive Primary Microcephaly
First reported 1955
Key publication · disorder [The hypothalamus in a case of microcephalia vera].Monatsschrift fur Psychiatrie und Neurologie · 1955
Manually curated
Association Review

In brief

The association between CDK5RAP2 (CDK5 Regulatory Subunit Associated Protein 2) and Autosomal Recessive Primary Microcephaly is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 0
Symptoms 18
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

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
CDK5RAP2

The gene

1 source summary

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

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04
Autosomal Recessive Primary Microcephaly

The disorder

8 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

17 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

5 references

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

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