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arthrogryposis multiplex congenita 2, neurogenic type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

arthrogryposis multiplex congenita 2, neurogenic type

MONDO:0008823

Also known as:AMC neurogenic typeAMCNarthrogryposis multiplex congenita neurogenic type

Overview

Neurogenic arthrogryposis multiplex congenita is a form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.

GeneticsAutosomal recessive · ERGIC1 (chr 5)

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: Skeletal muscle atrophy, Talipes equinovarus, Myopathy, and Congenital contracture and 2 more.

Organ System	Phenotype Count	Example Features
Muscles	4	Skeletal muscle atrophy, Myopathy, Congenital contracture
Bones and joints

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.

ERGIC1 encodes endoplasmic reticulum-golgi intermediate compartment 1 (290 aa). Possible role in transport between endoplasmic reticulum and Golgi Highest expression in Cells Cultured fibroblasts (124.8 TPM) and Adrenal Gland (77.0 TPM).

Arthrogryposis multiplex congenita 2, neurogenic type is associated with mutations in the ERGIC1 gene on chromosome 5.

ERGIC1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for ERGIC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:25 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:208100

Orphanet

European rare disease database

Orphanet:1143

GARD

Genetic and Rare Diseases Info Center

GARD:790

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 multiplex congenita 2, neurogenic type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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