Ehlers-Danlos syndrome due to tenascin-X deficiency

disorder

SNOMED 778022009CUI C1848029

Overview

Ehlers-Danlos syndrome due to tenascin-X deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Ligamentous laxity

Very frequent (80-99%)HP:0001382

Soft skin

Very frequent (80-99%)HP:0000977

Arthritic pain

Frequent (30-79%)HP:0002829

Bruising susceptibility

Frequent (30-79%)HP:0000978

Joint subluxation

Frequent (30-79%)HP:0032153

Muscle degeneration

Frequent (30-79%)HP:0003202

Muscle pain

Frequent (30-79%)HP:0003326

Muscle weakness

Frequent (30-79%)HP:0001324

Muscular hypotonia

Frequent (30-79%)HP:0001252

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Sensory neuropathy

Frequent (30-79%)HP:0000763

Skin hyperelasticity

Frequent (30-79%)HP:0000974

Thin skin

Frequent (30-79%)HP:0000963

Tiredness

Frequent (30-79%)HP:0012378

Abnormal heart rate

Occasional (5-29%)HP:0011675

Cerebral vascular events

Occasional (5-29%)HP:0001297

Gastrointestinal haemorrhage

Occasional (5-29%)HP:0002239

Increased connective tissue

Occasional (5-29%)HP:0009025

Muscle fiber splitting

Occasional (5-29%)HP:0003555

Premature atherosclerosis

Occasional (5-29%)HP:0004416

Proximal neurogenic muscle weakness

Occasional (5-29%)HP:0003701

Small adrenal glands

Occasional (5-29%)HP:0000835

Spina bifida occulta

Occasional (5-29%)HP:0003298

Striae atrophicae

Occasional (5-29%)HP:0001065

Symmetrical, proximal limb muscle atrophy

Occasional (5-29%)HP:0007126

Ambiguous genitalia due to virilization

HP:0000061

Heart shaped uterus

HP:0000813

Mitral valve prolapse

HP:0001634

Poor wound healing

Excluded (<1%)HP:0001058

Quadricuspid aortic valve

HP:0031655

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Ehlers-Danlos syndrome(parent)

Quick Facts

SNOMED CT: 778022009
UMLS CUI: C1848029
Fully Specified Name: Classical-like Ehlers-Danlos syndrome type 1 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.