Genopathy
Gene-Disorder Association · Article
Gene
MPDZ
Multiple PDZ Domain Crumbs Cell Polarity Complex Component
Disorder
Macrocephaly, Benign Familial
First reported 1976
Key publication · disorder Benign familial macrocephaly: report of a family and review of the literature.Pediatrics · 1976
Manually curated
Association Review

In brief

The association between MPDZ (Multiple PDZ Domain Crumbs Cell Polarity Complex Component) and Macrocephaly, Benign Familial is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 9
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
MPDZ

The gene

1 source summary

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

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04
Macrocephaly, Benign Familial

The disorder

4 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

6 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

4 references

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

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