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arthrogryposis, distal, IIa 11 (DA11) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis, distal, IIa 11

MONDO:0031045

Also known as:DA11

Overview

GeneticsAutosomal dominant · MET (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Camptodactyly; and very common findings: Absent proximal finger flexion creases. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	2	Rocker bottom foot, Absent proximal finger flexion creases

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MET encodes MET proto-oncogene, receptor tyrosine kinase (1,390 aa). Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor/HGF ligand. Highest expression in Nerve Tibial (21.3 TPM) and Cells Cultured fibroblasts (18.5 TPM).

Arthrogryposis, distal, IIa 11 is associated with mutations in the MET gene on chromosome 7.

The MET protein participates in GNAT1 (Met removed) and Signaling by MET pathways.

MET is classified as a druggable target (Cell Surface, Clinically Actionable, Drug Resistance, Druggable Genome, Kinase, and Tyrosine Kinase categories) with score 3.5.

Diagnosis

Genetic testing for MET is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 1 common feature.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:03 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620019

Questions for Your Care Team

→Should I pursue genetic testing for MET, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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arthrogryposis, distal, IIa 11

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team