Ehlers-danlos syndrome, classic-like, 1

Preferred Label : Ehlers-danlos syndrome, classic-like, 1;

Symbol : EDSCLL1;

CISMeF acronym : EDSCLL;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tnx deficiency; Ehlers-danlos syndrome due to tenascin-X deficiency; Eds due to tnx deficiency; EDSCLL; Ehlers-danlos syndrome, classic-like;

Description : Tenascin-X deficiency leads to a clinically distinct, autosomal recessive form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, hypermobile joints, and tissue fragility. For further background information on EDS, see 130000.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tenascin XB gene (TNXB, 600985.0001);

Laboratory abnormalities : Tenascin X deficiency (serum and fibroblasts);

Prefixed ID : #606408;

Details

Origin ID

606408;

UMLS CUI

C1848029;

Broader ORDO disease(s)
- Classical Ehlers-Danlos syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Classical-like Ehlers-Danlos syndrome type 1 [ORDO Disease]
- Ehlers-Danlos syndrome caused by tenascin-X deficiency [MeSH concept]
- Ehlers-Danlos syndrome caused by tenascin-X deficiency [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome classic-like 1 [DO Concept]
- Ehlers-Danlos syndrome due to tenascin-X deficiency [ICD-11 More detail]
- Ehlers-Danlos syndrome due to tenascin-X deficiency (disorder) [SNOMED CT concept]
DO Cross reference
- Ehlers-Danlos syndrome classic-like 1 [DO Concept]
Genes related to phenotype
- Tenascin xb [OMIM gene]
HPO term(s)
- Ambiguous genitalia, female [HPO term]
- Arthralgia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Bruising susceptibility [HPO term]
- Hiatus hernia [HPO term]
- Hyperextensible skin [HPO term]
- Increased connective tissue [HPO term]
- Joint hypermobility [HPO term]
- Joint subluxation [HPO term]
- Mitral valve prolapse [HPO term]
- Muscle fiber splitting [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Quadricuspid aortic valve [HPO term]
- Soft skin [HPO term]
- Unilateral renal agenesis [HPO term]
- Vesicoureteral reflux [HPO term]
Not associated HPO term(s)
- Poor wound healing [HPO term]
- Scarring [HPO term]
ORDO concept(s)
- Classical-like Ehlers-Danlos syndrome type 1 [ORDO Disease]
See also inter- (CISMeF)
- Ehlers-Danlos syndrome, classic-like type [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classical-like Ehlers-Danlos syndrome type 1 [ORDO Disease]
- Ehlers-Danlos syndrome caused by tenascin-X deficiency [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome caused by tenascin-X deficiency [MeSH concept]
- Ehlers-Danlos syndrome due to tenascin-X deficiency (disorder) [SNOMED CT concept]

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