Ehlers-Danlos syndrome due to tenascin-X deficiency
MONDO:0011670Mondo
Findings
No curated finding names Ehlers-Danlos syndrome due to tenascin-X deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bruising susceptibilityHPOHP:0000978
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Hyperextensible skinHPOHP:0000974
- 8 of 8 reported patients
- Obligate (100% of cases)
- Joint hypermobilityHPOHP:0001382
- 8 of 8 reported patients
- Soft skinHPOHP:0000977
- 7 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Generalized joint hypermobilityHPOHP:0002761
- Very frequent (80% to 99% of cases)
- Spontaneous hematomasHPOHP:0007420
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
- Back painHPOHP:0003418
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Broad footHPOHP:0001769
- Frequent (30% to 79% of cases)
- FatigueHPOHP:0012378
- Frequent (30% to 79% of cases)
Show the remaining 37
- Hallux valgusHPOHP:0001822
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Multiple joint dislocationHPOHP:0012095
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
- Pes planusHPOHP:0001763
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TNXBHGNC:11976
- Definitive · Illumina · Autosomal recessive · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Ehlers-Danlos syndrome due to tenascin-X deficiency
- Also called
- EDS, classic-like typeEhlers-Danlos syndrome, classic-like typeEhlers-Danlos syndrome, classic-like, 1