Genopathy
Gene-Disorder Association · Article
Gene
CHAMP1
Chromosome Alignment Maintaining Phosphoprotein 1
Disorder
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
First reported 1978
Supporting publications 8
Key publication · disorder Familial sinus node dysfunction with autosomal dominant inheritance.British heart journal · 1978
Manually curated
Association Review

In brief

The association between CHAMP1 (Chromosome Alignment Maintaining Phosphoprotein 1) and Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 52
Symptoms 57
Compounds 0
Trials 0
Publications 8
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
CHAMP1

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features

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

40 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

52 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

8 publications

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

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09
Provenance

References & sources

15 references

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

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