Genopathy
Gene-Disorder Association · Article
Gene
ADAMTSL4
ADAMTS Like 4
Disorder
Marfan Syndrome
First reported 1950
Key publication · disorder WEEKLY clinicopathological exercises: Marfan's syndrome; aneurysm of ascending aorta, with rupture; idiopathic medionecrosis of aorta; cardiac hypertrophy and dilatation; arachnodactyly.The New England journal of medicine · 1950
Manually curated
Association Review

In brief

The association between ADAMTSL4 (ADAMTS Like 4) and Marfan Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 147
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
ADAMTSL4

The gene

1 source summary

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

Request access
04
Marfan Syndrome

The disorder

14 database identifiers

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

Request access
05
Phenotype

Clinical features

105 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
07
Provenance

References & sources

6 references

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

Request access