FLNA and Osteochondrodysplasia: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

FLNA

Filamin A

Disorder

Osteochondrodysplasia

First reported 2004

Supporting publications 4

Key publication · gene–disorder A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.American journal of human genetics · 2004

Key publication · disorder [Special forms of fetal chondrodysplasia (chondrodystrophy), in particular congenital calcifying chondrodysplasia].Osterreichische Zeitschrift fur Kinderheilkunde und Kinderfursorge · 1950

Manually curated

Association Review

In brief

The association between FLNA (Filamin A) and Osteochondrodysplasia is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 0

Compounds 0

Trials 0

Publications 4

01

At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

02

Provenance

Evidence and sources

1 source

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

03

FLNA

The gene

1 source summary

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

04

Osteochondrodysplasia

The disorder

14 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

05

Literature

Reading

4 publications

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

06

Provenance

References & sources

6 references

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