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distal arthrogryposis type 5D (DA5D) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

distal arthrogryposis type 5D

MONDO:0014028

Also known as:DA5DECEL1 distal arthrogryposisdistal arthrogryposis caused by mutation in ECEL1

Overview

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

GeneticsAutosomal recessive · ECEL1 (chr 2)

ResearchLimited published research (4 articles)

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: Congenital hip dislocation, Decreased muscle mass, Tongue atrophy, and Excessive inward curvature of the lower spine (hyperlordosis) and others; and common findings: Narrow mouth, Limited elbow movement, Sideways curvature of the spine (scoliosis), and Open mouth and others. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Decreased muscle mass, Tongue atrophy, Elbow flexion contracture

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.

ECEL1 encodes endothelin converting enzyme like 1 (775 aa). May contribute to the degradation of peptide hormones and be involved in the inactivation of neuronal peptides Highest expression in Ovary (134.0 TPM) and Brain Hypothalamus (47.3 TPM).

Distal arthrogryposis type 5D is associated with mutations in the ECEL1 gene on chromosome 2.

ECEL1 is classified as a druggable target (Druggable Genome, Enzyme, Neutral Zinc Metallopeptidase, and Protease categories) with score 0.0.

Diagnosis

Genetic testing for ECEL1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for distal arthrogryposis type 5D.

4 publications have been identified in PubMed for distal arthrogryposis type 5D. Research spans Case Report / Case Series (75%) and Epidemiology / Natural History (25%).

Recent Publications

Begum J (2025). [PMID: 39681016](https://pubmed.ncbi.nlm.nih.gov/39681016/). *European journal of obstetrics, gynecology, and reproductive biology*. [Case Report / Case Series]
Hu W (2025). [PMID: 40372224](https://pubmed.ncbi.nlm.nih.gov/40372224/). *Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics*. [Case Report / Case Series]
Xu B (2025). [PMID: 40128796](https://pubmed.ncbi.nlm.nih.gov/40128796/). *Italian journal of pediatrics*. [Case Report / Case Series]
Endrakanti M (2024). [PMID: 38568023](https://pubmed.ncbi.nlm.nih.gov/38568023/). *American journal of medical genetics. Part A*. [Epidemiology / Natural History]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615065

Orphanet

European rare disease database

Orphanet:329457

GARD

Genetic and Rare Diseases Info Center

GARD:13059

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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distal arthrogryposis type 5D

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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