Genopathy
Gene-Disorder Association · Article
Gene
MASP2
MBL Associated Serine Protease 2
Disorder
Masp2 Deficiency
First reported 2004
Key publication · gene–disorder Mannan-binding lectin insufficiency in children with recurrent infections of the respiratory system.Clinical and experimental immunology · 2004
Key publication · disorder Mannose-binding lectin (MBL) in health and disease.Immunobiology · 1998
Manually curated
Association Review

In brief

The association between MASP2 (MBL Associated Serine Protease 2) and Masp2 Deficiency is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and likely-pathogenic variants.

Sources 2
Clinical variants 89
Symptoms 7
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
MASP2

The gene

1 source summary

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

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04
Masp2 Deficiency

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

4 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

89 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
Provenance

References & sources

4 references

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

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