Genopathy
Gene-Disorder Association · Article
Gene
CA2
Carbonic Anhydrase 2
Disorder
Osteopetrosis, Autosomal Recessive 3
First reported 1991
Supporting publications 13
Key publication · gene–disorder Carbonic anhydrase II deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107 His----Tyr): complete structure of the normal human CA II gene.American journal of human genetics · 1991
Key publication · disorder Osteopetrosis associated with proximal and distal tubular acidosis.Acta paediatrica Scandinavica · 1972
Manually curated
Association Review

In brief

The association between CA2 (Carbonic Anhydrase 2) and Osteopetrosis, Autosomal Recessive 3 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 94
Symptoms 89
Compounds 0
Trials 0
Publications 13
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

5 sources

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

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03
CA2

The gene

2 source summaries

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

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04
Osteopetrosis, Autosomal Recessive 3

The disorder

12 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

69 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

94 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

13 publications

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

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09
Provenance

References & sources

17 references

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

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