Genopathy
Gene-Disorder Association · Article
Gene
PHLDB1
Pleckstrin Homology Like Domain Family B Member 1
Disorder
Osteogenesis Imperfecta, Type Xxiii
First reported 1980
Supporting publications 1
Key publication · disorder A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.Proceedings of the National Academy of Sciences of the United States of America · 1980
Manually curated
Association Review

In brief

The association between PHLDB1 (Pleckstrin Homology Like Domain Family B Member 1) and Osteogenesis Imperfecta, Type Xxiii is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 2
Symptoms 32
Compounds 0
Trials 0
Publications 1
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
PHLDB1

The gene

1 source summary

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

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04
Osteogenesis Imperfecta, Type Xxiii

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

15 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

2 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

1 publication

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

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09
Provenance

References & sources

5 references

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

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