Genopathy
Gene-Disorder Association · Article
Gene
CRADD
CARD And Death Domain Containing Adaptor Protein
Disorder
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
First reported 1975
Supporting publications 3
Key publication · disorder A possible major contribution to mental retardation in the general population by the gene for microcephaly.Clinical genetics · 1975
Manually curated
Association Review

In brief

The association between CRADD (CARD And Death Domain Containing Adaptor Protein) and Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 13
Symptoms 22
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

4 sources

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

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03
CRADD

The gene

1 source summary

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

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04
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly

The disorder

6 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

8 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

13 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

9 references

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

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